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June 2021 EJPRD Newsletter

Themes of the EJPRD June 2021 Newsletter: Resource Finder Demonstration Resource Webinar: Human Pluripotent Stem Cell Registry (hPSCreg): 21st June 2021 ERN Workshop: Clinical Epidemiological Research—The Basics and Beyond: registration deadline 18th J …

The website of the International Myositis Society: imyos.org

The International Myositis Society (iMyoS) has been established in 2019. The main goal of the Society are: Support the development and harmonization of diagnostic criteria & standards of care for myositis and help to implement those in all other in …

Clinical Research with databases: The Basics & Beyond Workshop in clinical epidemiological research for ERNs

Research on rare conditions can be a great challenge, both practical and methodological. To counteract small study populations with a rare disease, large, collaborative, international datasets and registries are currently being erected for multiple dis …

ENMC Themed Workshops: “Post-Covid-19: Issues and opportunities for the neuromuscular field!”

ENMC has started a new initiative of “Themed Workshops”. Due to the fact that we are facing a new period after Covid-19 and because of the urgency to learn from this pandemic, the ENMC proposes this year the following theme: “Post-Covid-19 issues and o …

Speech as a biomarker in ataxia:What can it tell us andhow should we use it?

Webinar delivered by Adam Vogel 6th July 3PM Paris Educational webinars on rare neurological, neuromuscular and movement disorders jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases …

‘Update Metachromatic Leukodystrophy’​

‘Update Metachromatic Leukodystrophy’​ is a joint webinar organized by ERN-Rare Neurological Diseases with the European Academy of Neurology and the ERN Euro-NMD for rare neuromuscular disorders. Samuel Gröschel is Senior Child Neurologist, at the Depa …

New Limb-Girdle Muscular Dystrophies Classification

This WEBINAR discusses the new classification of LGMDs and maps the current classification to the previous one, explaining the rationale of the updates that were done. It includes therefore a ample discussion of disease causes, mechanisms and ontologie …

Webinar 24JUN 4PM Paris

WEBINAR New LGMD Classification Delivered by: Prof Volker Straub

The Basics & Beyond Workshop in clinical epidemiological research for ERNs

Research on rare conditions can be a great challenge, both practical and methodological. To counteract small study populations with a rare disease, large, collaborative, international datasets and registries are currently being erected for multiple dis …

Job offer for Webmaster and Community Manager for Euro-NMD

WEBMASTER & COMMUNITY MANAGER (M/F) Background information: European Reference Networks (ERNs); aiming to facilitate discussion on complex or rare diseases and conditions; are virtual networks involving healthcare providers from across Europe. EURO …

Addressing disease heterogeneity in myotonic dystrophy. Towards personalized intervention.

Delivered by Alain Geille, (president Euro-DyMA), Peter-Bram ‘t Hoen and Baziel van Engelen Jun 10, 2021 16:00 Paris time   This seminar will focus on the development of individualized interventions in myotonic dystrophy that take into account the …

MRI pattern recognition in leukodystrophies

Delivered by: Nicole Wolf (Emma Children’s Hospital, Amsterdam University Medical Centre, the Netherlands) On the: 8 June 2021, 3-4pm CET The speaker is consultant child neurologist and associate professor at the Emma Children’s Hospital, Amsterdam Uni …

Online Work Group and Board Meetings Monday May 31st – Friday 4th June 2021

 AGENDA European Reference Network for Rare Neuromuscular Diseases Online Work Group and Board Meetings Monday May 31st – Friday 4th June 2021 Please register before Thursday, May 27th   We invite all full members and Affiliated Partners of ERN Euro-NM …

Euro-NMD Board Members Meeting 4th June 2021 – programme and working groups

Dear members of the Board, Affiliated Partners, Executive Committee and Patient Advisory Board, You are all very welcome, on Friday June 4th, 2021, online, for the first semi-annual Board members meeting in 2021. The registration is now open, please us …

FSHD European Trial Network

EURO-NMD is pleased to announce the establishment of the “FSHD European Trial Network”. Nicol Voermans as chair and Pascal Laforet as vice chair; George Padberg and Baziel van Engelen as advisors coordinate this project, initiated by FSHD Europe. …

ProDGNE Kick-off Webinar 3rd June 2021, 6pm CET

GNE Myopathy is a rare genetic (autosomal recessive) disorder that causes progressive skeletal muscle atrophy and weakness. Previous names include hereditary inclusion body myopathy (HIBM), inclusion body myopathy type 2 (IBM2) or Nonaka myopathy. GNE …

Treatabolome – special issue of the JND

The “Treatabolome”, a new concept emerging from a European Project addressing unsolved rare diseases (Solve-RD, www.solve-rd.eu), is meant to bring awareness for rare diseases treatments by building a platform that list gene and variant-specific treatm …

July’s Summer School Webinar Series

The Euro-NMD webinar series of July will be devoted to some of the lectures given during the 2021 translational summer school and involving a remarkable list of experts. Our programme includes: July 2021 Thu Jul 1 – 16:00-17:00 CET Summer School Webina …

AcadeMYO

AcadeMYO is the digital version of the renowned Summer School of Myology that has been running yearly at the Institute of Myology (Paris, France), since 1998. The course is made of forty pre-recorded lectures accessible on demand and three half-day int …

EAN/PNS Guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy – open for members comment

In order to ensure high quality of European Academy of Neurology guidelines, EAN’s Guideline Production Group publishes draft guidelines on the EAN website for 15-days member comment period. The purpose of making the guideline available to EAN members …

WHAT’S NEW IN FSHD?

This webinar is about what is new in FSHD. The field of FSHD is rapidly evolving. The clinical and genetic variability of this disease become more undestandable together with FSHD pathophysiological mechanism. The development of new therapies for this …

ERN Euro-NMD Exchange Programme 2021-2022

Following the ERN’s motto: “knowledge travels, not the patient” we are pleased to announce that the EU is funding an Exchange Training Programme. Through this programme your travel costs will be financed, and you will receive a daily allowance of 200€ …

Newsletter

EURO-NMD Bursaries 2021

To ensure equity of care for patients with rare neuromuscular diseases across Europe, the ERN EURO-NMD is strongly committee to boost Training and Continuous Education Programmes. Our bursary scheme is open to young researchers/doctors under the age of …

Survey on education needs in rare Neuromuscular Diseases

The European Reference Network (ERN) on Rare Neuromuscular Diseases (EURO-NMD) is aiming at remodelling its training offers and wants to hear from the community it serves. ERNs are continuously working to improve the training and educational offers imp …

Research study on neuromuscular diseases: interactive session with families.

Share4 Rare is organizing a webinar for families who want to join the Share4Rare research pilot. This research project focuses on how being an / caring for a person with NMD affects learning & work opportunities. Dr. Michela Guglieri will be there, pre …

The Institute of Myology is recruiting a Clinical Research Physician

THE INSTITUTE OF MYOLOGY Located in Paris in the heart of the largest European hospital, the Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Telethon, a patient’s organization. Its objective is to promote the recognition and deve …

MR Biomarkers in Spinocerebellar Ataxias

Next European Reference Network for Rare Neurological Diseases joint webinar with Euro-NMD ERN for rare neuromuscular diseases and the European Academy of Neurology is entitled: MR Biomarkers in Spinocerebellar Ataxias. It takes place on the 13th April …

MUSCLE AND AGEING

This Euro-NMD webinar, organised in collaboration with ERN-RND Rare Neurological Disorders and the European Academy of Neurology, is about Muscle and Ageing. It is delivered by Gillian Buttler-Brown who has a special interest and extensive research wor …

Muscle Atlas: introduction of a new resource

The Muscle Atlas is the first muscle image database to accelerate research, diagnosis and therapeutic approaches. It is based on the infrastructure of AIM/AFM in Paris and was conceived by Bruno Cadot, a researcher from the Myology Center for Research, …

2021 VCP Scientific Conference Sep 9, 7:00PM to Sep 11, 12:15AM CEST

The VCP Scientific Conference is an international meeting that will take place virtually on September 9-10, 2021. This conference will be the first VCP focused meeting since the ENMC meeting in 2015. With the continuing public health challenges of the …

Setting up a FAIR registry for Euro-NMD

Watch this video-presentation by Peter-Bram van ‘t Hoen, where he shares his first experiences and plans for setting up an European Reference Network (ERN) for neuromuscular disorders. It includes useful explanations about concepts such as FAIR data an …

European Conference on the Diffusion of Genomic Medicine: Health Economics & Policy 26 – 28 May 2021 -registration open

As part of Solve-RD, Solving the unsolved rare diseases, a European project H2020 (http://solve-rd.eu/) on genetic research, the Health Economics Team of the Economics Laboratory of Dijon (University of Burgundy) organises the “European Conference on t …

Current list of 2021 Euro-NMD Webinars

EURO-NMD provide educational webinars on a monthly basis to increase the knowledge around different specialist areas related to the neuromuscular field, in collaboration with the European Reference Network for Rare Neurological Disorders (ERN-RND) and …

Challenges in Frontotemporal Dementia: clinical, genetic and pathological heterogeneity

23MAR 2021 15:00-16:00 CET Challenges in Frontotemporal Dementia: clinical, genetic and pathological heterogeneity’​ by Harro Seelaar The speaker is Neurologist and Postdoctoral researcher in the Department of Neurology at the University Medical Center …

MODELING DISEASE PROGRESSION IN GNE MYOPATHY

Delivered by: Melanie Quintana Description: We describe a Bayesian repeated measures model based on quantitative muscle strength data from a prospective Natural History Study at the NIH that was developed to determine disease progression and design cli …

Myoclonus dystonia

Next ERN-RND joint webinar with Euro-NMD and European Academy of Neurology 9 March, 15-16h CET Speaking Belén Pérez Dueñas Of Vall d’Hebron University Hospital, Barcelona, Spain Chaired by Marina de Koning-Tijsse, University Medical Centre Groningen, t …

The semestral Euro-NMD Registry Hub March 2021 newsletter is out

Progress has been made with the EURO-NMD Registry Hub project, as the team is working on the FAIRification of the registry. This means that it should be possible for health records written in different languages, formats and stored in different registr …

Rare Diseases Day 2021

Rare Disease Day 2021 will take place on Sunday 28th February and around the world many awareness raising events have been organised. EURO-NMD would like to wish the Rare Diseases community all the very best, and a very successful and enjoyable day . Y …

TELEMEDICINE IN NMD: STATE OF THE ART

Telemedicine in NMD: state of the art Delivered by: Sabrina Sacconi and Gabriele Siciliano Sabrina SACCONI is Professor of Neurology at Nice University Hospital (France), now recognized as Reference Center for rare Diseases. Pr. SACCONI starts to pract …

ERN Euro-NMD Expert Group for Guidelines Development

The European Commission has started a Project that involves Euro-NMD for developing Guidelines for Neuromuscular Conditions. The purpose is to support the creation of two new guidelines and the update of five existing ones. A consortium of Spanish Acad …

EURORDIS Black Pearl Awards

Recognising the outstanding achievements and exceptional work of people making a difference for the rare disease community. The 10th edition of the EURORDIS Black Pearl Awards will take place fully online on 24th February 2021, from 17:00 CET. You will …

Rare Diseases Day 2021

Rare Disease Day 2021 will take place on Sunday 28th February and around the world many awareness raising events have been organised. We would like to wish everyone involved all the very best, we hope you have a very successful and enjoyable day. You a …

CPMS new features webinar for ERN Euro-NMD Members/HCPs

Dear ERN Members The EU Commission has organized a webinar on the new features of Clinical Patient Management Ssystem that will be of interest to all clinicians and panel managers dealing with CPMS. As promised, the software has been improved and the n …

World Duchenne Organization, together with the Duchenne Data Foundation, started their Duchenne Emergency & Capacity Building Program

The Duchenne Emergency & Capacity Building Program was set up by the World Duchenne Organization and Duchenne Data Foundation. It aims to support local communities through strategic global capacity building. It was first put into action to deliver …

IRDiRC announcement of two new Task Forces

The International Rare Diseases Research Consortium (IRDiRC) has announced the opening of two new Task Forces: “Shared Molecular Etiologies Underlying Multiple Rare Diseases” aiming to address and document the existing challenges in adapting the basket …

Rare Disease Natural History Studies: Experience from the GNAO1 Natural History study in a pre and postpandemic world

Date: 9 February 2021, 3-4pm CET Speaker: Amy R. Viehoever, Washington University, Saint Louis, USA Venue: Zoom (online) You can sign up here. More information about ERN-RND webinars in collaboration with EURO-NMD and the European Academy of Neurology …

EJP-RD project’s 3rd Call for Research Training Workshops is now open

The EJP-RD project’s 3rd Call for Research Training Workshops is now open (27. January-7. March 2021). Applicants from ERN Full Members or Affiliated Partners can submit Workshop Topics on rare diseases research to obtain funds (25.000€) in order to co …

OCCURRENCE OF BOTH SKELETAL MUSCLE AND PERIPHERAL NERVE INVOLVEMENT IN GENETIC AND ACQUIRED DISORDERS

By Prof Antonio Toscano, Neurologist and Neuromuscular Expert, Dean of the Medical Faculty of the University of Messina, IT Prof. Toscano scientific activity has been mainly developed in neurogenetic diseases with specific reference to neuromuscular an …

Applications open for the ENMC Mid-Career Mentoring Programme

ENMC has developed a new Mentoring Programme. The ENMC Mid-Career Mentoring Programme has been developed for people who wish to seek mentoring in order to become independent researchers and/or potential future leaders in the NMD field. With this progra …

EJPRD Information Webinar on the Joint Transnational Call 2021

The EJP RD is glad to invite you to the information webinar organised for potential applicants to the Joint Transnational Call 2021 on “Social Sciences and Humanities Research to Improve Health Care Implementation and Everyday Life of People Living wit …

Treat-NMD Expert Masterclass on Limb Girdle Muscular Dystrophy, 29th and 30th April 2021

Treat-NMD (treat-nmd.org) is organising a virtual masterclass of LGMD in Europe, following the success of a first masterclass last September in the USA. It will take place online on the 29th and 30th April 2021 and will have speakers from all over Euro …

Survey on patients organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe

A new Euro-NMD publication is now available preprint on The Orphanet Journal of Rare Diseases about  European patients organisations’ knowledge and position paper on screening for inherited neuromuscular diseases. The need for this paper arises from th …

ERN acknowledgement in ERN members’ publications/communications

If you publish on the name of an Institution that is Member of the ERN Euro-NMD you are expected to acknowledge the ERN in the paper. Please use the following when referring to the ERN Euro-NMD in any relevant publications you might contribute to. …

Progressive Supranuclear Palsy – Update on Diagnostics, Biomarkers & Therapies

Next ERN-RND joint webinar with Euro-NMD and the European Academy of Neurology is on 26 Jan 2021 at 3:00 PM (CET) Delivered by Günter Höglinger, Medical University Hannover  

SLEEPINESS, FATIGUE AND APATHY IN DM1 PATIENTS

Myotonic Dystrophy’s CNS manifestations are most incapacitating and Dr Gallais has spent many years researching effects of symptoms like apathy, fatigue and sleepiness to improve their management and improve these patients’ quality of life. Dr Benjamin …

Coordinator’s Message and Season’s Greetings

Despite the extraordinary circumstances of 2020, Euro-NMD has consolidated as a network for neuromuscular disorders. It started the year with 61 full members (HCPs) and welcomed 9 affiliated partners in 2020. Moreover, we are currently evaluating 26 ne …

Coordinator’s Message and Season’s Greetings

Despite the extraordinary circumstances of 2020, Euro-NMD has consolidated as a network for neuromuscular disorders. It started the year with 61 full members (HCPs) and welcomed 9 affiliated partners in 2020. Moreover, we are currently evaluating 26 ne …

WMS Congress 21-25 September 2021 is going virtual.

Building on the recent success of the WMS 2020 Virtual Congress and the ongoing uncertainty around the COVID-19 situation the Executive Board of WMS has taken the decision to move forward with a virtual congress for 2021. We therefore look forward to w …

The latest EJPRD newsletter is now online.

Please, read it online clicking on the link we provide. The European Joint Programme on Rare Diseases (EJP RD) brings over 130 institutions (including all 24 ERNs)  from 35 countries: 26 EU Member States (Austria, Belgium, Bulgaria, Czech Republic, Den …

EAN decides to hold virtual congress in June 19-22 2021

Due to the continuing COVID-19 pandemic the European Academy of Neurology has decided to go virtual again for the 7th EAN Congress on June 19-22, 2021, originally to be held in Vienna.

The ERICA Project: joining forces to integrate research and innovation capacity across all 24 European Reference Networks

The European Rare disease research Coordination and support Action (ERICA) Project received a positive evaluation for a H2020 grant to establish a structural framework in support of the research activities of the ERNs, including ERN Euro-NMD. ERICA wil …

IRDiRC Conference and RE(ACT) Congress 2021

The International Rare Diseases Research Consortium (IRDiRC) and The BLACKSWAN Foundation alongside with the European Joint Programme on Rare Diseases (EJP RD) are hosting a joint online event IRDiRC Conference and RE(ACT) Congress 2021 from 13th to 15 …

7th Congress of the European Academy of Neurology goes Virtual

The European Academy of Neurology has decided to go virtual again for the 7th EAN Congress on June 19-22, 2021, originally to be held in Vienna. Once again, we look forward to offering you the opportunity to learn from experts in your field, grow your …

Vincenzo Nigro

Full professor of Medical Genetics at the Department of “Precision Medicine” of the “University “Luigi Vanvitelli” of Naples, Italy ” and Associate Investigator of the Telethon Institute of Genetics and Medicine (TIGEM).

Next round of bursaries announced!

The next round of bursary applications is now open. The bursary scheme is open to young researchers/doctors under the age of 40 years old that belong to one of the EURO-NMD healthcare providers. Due to the COVID19 pandemic and widespread travel disrupt …

International Neuromuscular COVID-19 Database

Information regarding the paediatric & adult Neuromuscular COVID-19 Database, to monitor and report on outcomes of “Coronavirus Disease 2019” (COVID-19) occurring in patients with Neuromuscular Diseases. Guidelines and how to access the database is …

Registry Hub for Rare Neuromuscular Diseases

Patient centered and interoperable registry hub for Rare Neuromuscular Diseases A recognised challenge for rare diseases is the heterogeneity of legacy data sets and the multiplicity of existing registries. EURO- NMD health care providers and patient o …

Duchenne Patient Academy

Closing Date for Applications – 13th November 2020 Duchenne Patient Academy is open to DMD/BMD patient advocates, with selected days open to all NMD patient advocates who might be interested. It will be of particular interest to the following groups: i …

ENMD 2020

The aim of the congress is to outline innovative solutions in diagnosis, treatment and care of the patient with a neuromuscular disease has been and, even more so now, continues to be an important milestone along the road to improve management of these …

EURO-NMD Board & Working Group Meetings – Winter 2020

EURO-NMD network stakeholders – please save the date! 8-11 December 2020 Our next board meeting and associated group meetings is now scheduled to take place in early December 2020. As with all meetings being held in this current crisis we will be holdi …

EURO-NMD Board & Working Groups Meeting December 2020

With the ongoing COVID-19 outbreak worldwide most meetings and conferences throughout 2020 have been cancelled, postponed or moved to an online format. Our December 2020 board and working group meetings is no exception. For reasons of safety and becaus …

Mitochondrial Medicine (Virtual Conference)

Owing to the ongoing situation with covid-19, this event will be organised as a virtual conference. Abstract deadline: 6 October 2020 This will be the fifth conference in the series of meetings on mitochondrial disorders and the search for novel effect …

Action Duchenne International Conference 2020

The 2020 Action Duchenne Annual International Conference will take place online this year. They are planning a virtual experience that will take focus on the weekend of 14th and 15th November 2020. The conference is so important for so many other reaso …

WMS25 Virtual Congress

The 25th International Congress of the World Muscle Society will be held virtually, a first for the WMS! The congress will take place from 28th September to 2nd October 2020 The virtual meeting will still provide a multidisciplinary scientific forum to …

Myobase – The bibliographic database of neuromuscular disorders

Myobase gives access to more than 75% of records in fields related to medical, scientific, psychosocial and psychological aspects of these diseases as well as disabilities. The database is implemented by AFM-Téléthon library which has been collecting d …

Gait rehabilitation in people with hereditary spastic paraplegia & Respiratory physiotherapy in Parkinson’s plus syndromes

Gait rehabilitation in people with hereditary spastic paraplegia was delivered by Jorik Nonnekes, MD PhDRadboud University Medical Centre, Nijmegen Donders Institute for Brain, Cognition and Behaviour Centre of Expertise for Parkinson & Movement Di …

Henning Andersen

Anette Torvin Møller

Italian Meeting on Mitochondrial Diseases

This 10th iteration of the Italian Meeting on Mitochondrial Diseases will be held virtually. It will be a unique opportunity to discuss and update on current understandings of mitochondrial diseases. The official language is English. Participation is f …

Rehabilitation in ataxia: current evidence and practice

Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Ludger Schöls is a Professor …

Development of Sara-home: a novel assessment tool for patients with ataxia

Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Gessica Vasco is Pediatric N …

Functional movement disorders: a diagnostic guide

Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Christos Ganos is a neurolog …

Non-invasive stimulation for ataxias

Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Bart van de Warrenburg is a …

Clinical practice recommendations for physical therapy for Huntington’s disease

Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Bernhard Landwehrmeyer is a …

Treatment of spasticity in HSP and leukodystrophies

Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Annemieke Buizer is Full Pro …

Hereditary Spastic Paraplegia – clinical disease course

oint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Rebecca Schüle is neurologist and associate professor at the Universit …

How can we develop and implement evidence based rehabilitation in rare disorders?

Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Hortensia Gimeno is a Clinic …

A challenge in neurogenetics: Huntington disease in kids

Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Ferdinando Squitieri is a Neurologist with a PhD in Neurobiology. He …

How to assess and manage spastic gait in rare diseases?

Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Gál Ota is a physiotherapist …

The semantic variant of primary progressive aphasia: clinical manifestation and underlying neuropathology

Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Speakers: Zsolt Cséfalvay, PhD, professor and head of the Department …

Center for Neuromuscular Disorders/Dept. Paediatrics at the Emperor Franz Josef-Hospital with Gottfried Preyers Children’s Hospital Vienna

The Cyprus Foundation for Muscular Dystrophy Research

Mater Dei Hospital

Malta

Aarhus Universitets Hospital

Patient centered and interoperable registry hub for Rare Neuromuscular Diseases

Friday June 26 – Today, over 20 project partners from 7 organizations participated in the joint kick-off of the EURO-NMD Registry Hub project. The goal is to build a registry hub for all neuromuscular diseases, including undiagnosed patients, and conne …

ICNMD Digital

ICNMD will be offering a Virtual teaser this 11 – 14 September 2020. This Fall will feature just some of the latest science collected to date and give you a taste of what to expect in Valencia. More details to come on this exciting new addition shortly …

CHALLENGES IN THE DIAGNOSIS AND MANAGEMENT OF PATIENTS WITH MYASTHENIA GRAVIS

This Webinar has been delivered by Prof Isabel Leite, University of Oxford, UK on Thursday 10 December 16:00 (Paris Time) This is part of a joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscul …

Virtual coffee with patient organisations and Share4Rare

Research is at the heart of solutions for all patients. However, it is not always conducted with the patient in mind. Patient organisations are increasingly invited to submit evidence to healthcare decision-makers, but collecting good quality evidence …

Virtual coffee with patient organisations and Share4Rare

Research is at the heart of solutions for all patients. However, it is not always conducted with the patient in mind. Patient organisations are increasingly invited to submit evidence to healthcare decision-makers, but collecting good quality evidence …

Philippe Kerschen

Specialist in neurology – Department of NeurologyMedical studies in France first as a hospital intern at Nancy University Hospital (2003-2008) and then as University Clinical Director – Hospital Assistant at Henri Mondor University Hospital in Créteil (2008-2012). Complementary training in electroencephalography (EEG) in the clinical neurophysiology department of the CHU Pitié-Salpêtrière in Paris (2012-2013).

Fernand Pauly

Doctor Fernand Pauly is the founder of the Functional Evaluation and Rehabilitation Service Medical studies mainly in Strasbourg and Nancy with exchanges with Heidelberg and Paris, specialization in pediatrics and functional rehabilitation and rehabilitation, CES in physiology and sports medicine, inter-university diploma in the treatment of childhood pain.

Centre Hospitalier de Luxembourg

Luxembourg

PAINFUL NEUROPATHIES: FROM DIAGNOSIS TO TREATMENT

This webinar was delivered by Janneke Hoeijmakers in August 2020. Janneke is a medical advisor for the diagnosis group small fiber neuropathy of the Dutch patients organization for neuromuscular disorders (Spierziekten Nederland) and board member of th …

AFM – COVID-19 Guidelines Available

L’AFM-Téléthon, Association de Patients Française, et FILNEMUS , la Filière Neuromusculaire Française have developed a series of practical guidelines that wheelchair users, caregivers and the general wider NMD community might find useful. There are fou …

The position of neuromuscular patients in Shared-Decision-Making

ENMC highlights workshop report In 2018, ENMC held a special workshop on how to involve patients more in the decision making about research and care management of neuromuscular conditions. The ENMC White paper resulting from this meeting came out just …

Register for the 2020 Online Network Group Meetings

Download the July 2020 Agenda Registration is now closed  

Register for 2020 Online Board Meeting

Due to the COVID-19 pandemic, our 2020 Summer Board Meeting has moved to an online format. Download the July 2020 Agenda Registration is now closed

French Association against Rare Peripheral Neuropathies

Gli Equilibristi HIBM

CIDP Italia ONLUS

Massimo Marra

Diagnostic algorithm for childhood onset chorea

This webinar was part of a joint series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). It was delivered by Juan Dario Ortigoza-Escobar wh …

MANAGEMENT OF CARDIAC INVOLVEMENT IN GENETIC MYOPATHIES

This webinar was delivered Karim Wahbi who is Professor of Cardiology at the University of Paris, France and head of the reference centre for neuromuscular cardiomyopathies in Cochin Hospital, Paris. He completed his cardiology internship and residency …

Patricia Blomkwist-Markens

Michela Onali

Huntington’s disease & COVID-19: a difficult combination

This webinar was presented by EHA & ERN-RND on the 6th April 2020.

INTRODUCTION TO MR NEUROGRAPHY

This webinar was delivered by Olivier Scheidegger from the Bern University Hospital/University of Bern in Switzerland. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-Euro …

PEDIATRIC MUSCLE IMAGING

This webinar was delivered by Robert-Yves Carlier from University Hospital Raymond-Poincaré APHP in France. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-Euro-NMD) and t …

MHTest form page

Introduction As the European Reference Network for Neuromuscular diseases we would like to increase our understanding of the effects COVID-19 has on patients with existing neuromuscular conditions. We would be grateful if you could take a few moments t …

Renin–Angiotensin–Aldosterone System Inhibitors in Patients with Covid-19

The New England Journal of Medicine have recently published this special report on Renin–Angiotensin–Aldosterone System Inhibitors in Patients with Covid-19. The renin–angiotensin–aldosterone system (RAAS) is an elegant cascade of vasoactive peptides t …

Rare disease community raises alert over discrimination in critical care guidelines during COVID-19 pandemic

EURORDIS urges immediate action and proposes concrete solutions 31 March, Paris – EURORDIS-Rare Diseases Europe is alarmed by reports from member organisations and individuals that people living with a rare disease are being discriminated against in cr …

COVID-19 and Neuromuscular Patients

NMD4c the neuromuscular network for Canada provides advice and information for neuromuscular patients about COVID-19. There is an abundance of information available on COVID-19, but little guidance specific to Canadians with neuromuscular disease (NMD) …

Pulmonary Support for Myotonic Dystrophy Patients During COVID-19 Pandemic

NMD4c the neuromuscular network for Canada releases information regarding pulmonary support for Myotonic Dystrophy patients during the  COVID-19 Pandemic. New COVID-19-related guidance has been produced for people living with myotonic dystrophy who alr …

COVID-19: Care Recommendations for Home-Based Ventilation Patients

NMD4c the neuromuscular network for Canada releases recommendations for home based ventilation. As COVID-19 continues to affect our daily lives, it is critical that we try to limit the spread of the virus as much as possible. This is especially applica …

EMA advises continued use of medicines for hypertension, heart or kidney disease during COVID-19 pandemic

Press release 27/03/2020 EMA is aware of recent media reports and publications which question whether some medicines, for instance angiotensin converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs, or sartan medicines), could worse …

Guidance for the management of Myasthenia Gravis (MG) and Lambert-Eaton Myasthenic Syndrome (LEMS)

This article has been developed to offer guidance for those people who are affected by Myasthenia Gravis or Lambert-Eaton Myasthenic Syndrome. As most patients with MG are on immunosuppressive or immunomodulatory therapies and may also have respiratory …

COVID-19 and NMDs – Latest news

On this page we will attempt to collate all the information we receive or find out about on the virus COVID-19 and the implications it has on the neuromuscular community. We will try to keep this page as up to date as possible but as you can appreciate …

EU Commission launches “COVID-19 Clinical Management Support System”

On 24 March, the European Commission launched the “COVID-19 Clinical Management Support System” with the aim to support clinicians in hospitals that are currently facing the coronavirus emergency all over Europe. Based on the experience with the Europe …

Covid-19 and people with neuromuscular disorders: World Muscle Society position and advice

Dr. Maxwell S. Damian, PhD, collated the World Muscle Society (WMS) Covid-19 advice (28th March 2020) for neuromuscular patients, carers, general neurologists and non-specialist medical providers. This document is also intended to inform neuromuscular …

Coronavirus: ALERT on the use of chloroquine in myasthenia gravis

Coronavirus: ALERT on the use of chloroquine in myasthenia gravis Please note: in myasthenia gravis, chloroquine, erythromycin and telithromycin are an absolute contraindication. These treatments can make your condition worse and are likely to trigger …

ERN EURO-NMD survey on Neuromuscular Diseases and COVID-19 infection

Why questionnaires? Some of the patients with a neuromuscular disease can be more vulnerable to COVID19 infection. Still much needs to be learned about the indications for NMD patients and how to act in case of COVID 19 infection. Also, the approaches …

COVID-19 advice for the NMD community – UPDATED

The current guidelines regarding COVID-19 exposure and preventive measures can be found on the World Health Organisation (WHO) website. Guidelines in English Guidelines in French In order to inform the neuromuscular community we have prepared the follo …

Translational Summer School 2020 – Postponed!

We are sad to announce that we have taken the difficult decision to postpone the 2020 Translational Summer School which was due to be held in Leiden in July. We fully anticipate that this will now take place in July 2021. This summer school is a collab …

NMD & COVID-19 – hospital survey

Introduction As the European Reference Network for Neuromuscular diseases we would like to increase our understanding of the effects COVID-19 has on patients with existing neuromuscular conditions. We would be grateful if you could take a few moments t …

NMD & COVID-19 – patient survey

Introduction As the European Reference Network for Neuromuscular diseases we would like to increase our understanding of the effects COVID-19 has on patients with existing neuromuscular conditions. We would be grateful if you could take a few moments t …

François Lamy

François Lamy is the father of a 11 year-old boy with Duchenne Muscular Dystrophy. He has been elected as a member of the Board of Directors of the AFM-Téléthon since 2012, and currently serves as its Vice-President in charge of research.

Patient Advisory Board – PAB

The Patient Advisory Board (PAB) comprises of the European Patient Advocacy Group (ePAG) which is made up of 7 patient organisations elected through a process put in place by EURORDIS for patient organisations in general, as well as invited umbrella pa …

Patrizia Garzena

International Course and Conference on Neuromuscular Imaging 2021

The dates of this conference have changed from September 2020 to September 2021. The program has been updated The 9thAnnual Meeting of the International Society of Peripheral Nerve Imaging (ISPNI) will take place in the vibrant port city of Rotterdam, …

Serenella Servidei

EURO-NMD takes part in rare diseases day at the European Parliament

People living with SMA, ALS and other rare disease was the focus of the Rare Disease event at the EU Parliament on 18 February. The event was organised by Biogen in collaboration with EURORDIS, the patient organisation for rare diseases, hosted by the …

Hypomyelination (paediatric focus)

Nicole Wolf is a child neurologist at the Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, the Netherlands. Nicole does research in leukodystrophies: metachromatic leukodystrophy and hypomyelinating leukodystrophies …

X-linked adrenoleukodystrophy (adult/paediatric focus)

Marc Engelen is a Pediatric Neurologist from the University Medical Center in Amsterdam, the Netherlands. He is an expert on adrenoleukodystrophy and other neurodegenerative diseases. Joint webinar series by the European Reference Networks for Rare Neu …

Paroxysmal dyskinesias: update on clinical and genetic aspects

Giovanna Zorzi is a pediatric neurologist from the Foundation I.R.C.C.S – Institute of Neurology Carlo Besta, Milan, Italy . She is an expert in pediatric movement disorders. Joint webinar series by the European Reference Networks for Rare Neurological …

Monica Sciacco

Janneke Hoeijmakers

EURO-NMD Board & Working Group Meetings 2020 ONLINE!

Our Summer Working Group Meetings and Board Meeting will be held online! Please note: All times are in CET (Paris time) Individual agendas and information about each meeting are available below by clicking on the meeting name Friday 10th July 2020 Dise …

Inna Inashkina

Dr.biol. Inna Inashkina is the leading researcher (the head) of the Medical Genetics and Mitochondrial Research Group in the Latvian Biomedical Research and Study Centre, Riga, Latvia. For the last couple of years, this group has been involved in Medical Genetics and Mitochondrial research projects, focused mainly on disease developmental mechanisms at the molecular level.

Latvian Biomedical Research and Study Centre

New Share4Rare Chapter for Congenital Muscular Dystrophies

The Share4Rare Congenital Muscular Dystrophies chapter is now available.  The chapter describes the different types of Congenital Muscular Dystrophies, the cause of the disease and complications associated with diagnosis. You will also find links to re …

Matthias Baumann

Matthias Baumann, MD and PhD, is head of the division of Paediatric Neurology and Lecturer in Paediatrics at the Department of Paediatrics, Medical University Innsbruck, Austria. He is a medical doctor and specialized in Paediatrics and Paediatric Neurology in Wolfsburg, Göttingen and Kassel, Germany.

Wolfgang Löscher

Wolfgang Löscher, MD and PhD, is Professor for Neurology at the Department of Neurology, Medical University Innsbruck, Austria. After finishing his PhD in Neuroscience at the Karolinska Institute, Stockholm, Sweden, he trained in neurology at the Departments of Neurology, Medical University Salzburg and Graz.

Sabine Rudnik-Schöneborn

Representative for the ERN: Sabine Rudnik-Schöneborn, MD and PhD, is Professor and Lecturer in Clinical Genetics at the Institute of Human Genetics, Medical University Innsbruck, Austria. She is a medical doctor and specialized in human genetics at the University of Bonn, Germany. She worked many years as a senior clinical geneticist at the Institute of Human Genetics, University Hospital Aachen, Germany.

Institute of Human Genetics, Medical University Innsbruck

Avances en patología neuromuscular en la infancia 8a edición

Registration is now open for the 8th Paediatric Neurology Face-to Face course (in Spanish ) – 8th Avances en patología neuromuscular en la infancia. This course will taught throughout in Spanish and will be held in Hospital Universitari Sant Joan de Dé …

PERSONALISED CARE FOR PATIENTS WITH ALS: ALS HOME MONITORING & CARING

This webinar was delivered by Drs Anita Beelen and Esther Kruitwagen-van Reneen – Neuromuscular diseases in the University Medical Center Utrecht in the Netherlands. Joint webinar series by the European Reference Networks for Rare Neurological Diseases …

EXERCISE IN NEUROMUSCULAR DISEASES – A MOVING TOPIC

This webinar was delivered by Nicole Voet from Klimmendaal – Polikliniek Neuromusculaire Aandoeningen in the Netherlands. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-E …

European Patient Organisation for Dysimmune and Inflammatory Neuropathies (EPODIN)

Victoria Nesbitt

THE BASICS OF GENETIC APPROACHES FOR NMDs – USING DMD AS A PARADIGM

This webinar was be delivered by Annemieke Aartsma-Rus, who is a Professor of Translational Genetics, Department of Human Genetics, Leiden University Medical Center in the Netherlands. Joint webinar series by the European Reference Networks for Rare Ne …

RDR Challenges Networking Event

The innovative “Rare Diseases Research (RDR) Challenges” call will be implemented to facilitate and fund collaboration between industry, academia, SMEs, and patient organizations to solve specific research challenges in rare diseases. In order to initi …

International course: Training on strategies to foster solutions of undiagnosed rare disease cases ONLINE

Please note this course will now be held online. The Course is made up of 3 days of residential training organized by ISS, Istituto Superiore di Sanità, in close collaboration with EJP RD task partners: EKUT, LBG (LBI-RUD) –Ludwig Boltzmann Gesellschaf …

CONGENITAL MYASTHENIA SYNDROMES – AN UPDATE

This webinar was delivered by Dr Sithara Ramdas. Sithara is a Consultant Paediatric Neurologist and an Honorary Senior Lecturer University Of Oxford Oxford University Hospitals NHS Foundation Trust John Radcliffe Hospital. Joint webinar series by the E …

Recognizing atypical parkinsonism

This webinar was presented by Wassilios Meissner from University Hospital Bordeaux, Institute of Neurodegenerative Disorders. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (E …

Ultrasound diagnostics for cervical dystonia

Tobias Bäumer is a Professor of Neurology and Head of the Experimental Neurophysiology, Paediatric and Adult Movement Disorders and Neuropsychiatry Group at the Institute of Neurogenetics, University of Lübeck, Germany. Joint webinar series by the Euro …

Mitochondrial disorder with chorea

Martin Paucar Arce is a neurologist from the Karolinska Institutet in Stockholm, Sweden, specialized in movement disorders. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN …

Introduction into Leukodystrophies

Nicole Wolf delivered this webinar. She is child neurologist at the Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, the Netherlands. Nicole does research in leukodystrophies: metachromatic leukodystrophy and hypomy …

The inherited ataxias

This webinar was delivered by Paola Giunti who is a Principal Clinical Research Associate in the Department of Molecular Neuroscience at UCL, Institute of Neurology at UCL, UK. Her clinical and research interests are in neurogenetics, neurodegenerative …

European MTM-CNM Family Conference

Please note this conference has been postponed until 2021! Together Even Stronger 2021! All people with myotubular myopathy or other centronuclear myopathies, their families, carers, doctors and therapists are warmly invited to come to Bad Nauheim from …

TREAT-NMD Expert Masterclass in DMD POSTPONED

This is a medical led eductional programme designed to provide healthcare providers with the most up to date information in standards of care and treatment options. Interested applicants are asked to complete an application form. Applications are revie …

International Conference DMD/BMD Spain

Ever since 2016 Duchenne Parent Project Spain has organized an annual congress. The main objective of their congress is to facilitate families and those affected who can access the exchange of information and experiences in order to favor mutual suppor …

18th International Conference on Duchenne and Becker Muscular Dystrophy

This event is organised by Parent Project Italy. Registration now open.

Duchenne Conference Switzerland (postponed from 2020)

This 3rd iteration of this conference series has been postponed until 2021! Please note the new date! Confirmed speakers include Professor Volker Straub, Dr Andrea Klien, Professor Dirk Fischer and Dr James Poysky. Please note: this conference is deliv …

CMT-France 2020 Congress POSTPONED!

This congress has been postponed and is expected to take place later in the year. Please visit the CMT France website for the most up to date information. The next CMT-France congress will take place in St. Malo on 28th March in the Grand Large”, the P …

WCN 2021

Further information will be available here in due course. Alternatively, we recommend visiting the World Federation of Neurology’s website.

FSHD Connect Conference

Further details will be available here in due course. In the meantime, find out more on the FSHD Connect website

8th Dysferlin Conference POSTPONED/CANCELLED

Due to the Corona virus the Jain Foundation have cancelled our conference. They hope to reschedule this event later and will provide updates as they become available. The Jain Foundation Dysferlin conference is the only meeting of its kind and focuses …

2020 MDA Clinical and Scientific Conference – POSTPONED!!

The MDA 2020 conference has been postponed! Please check with the MDA conference website directly to ensure you have access to the very latest information. 2020 marks the 70th anniversary of the Muscular Dystrophy Association (MDA), the umbrella associ …

SMA Clinical Care Meeting ONLINE

The current state of the COVID-19 pandemic has led Cure SMA to reschedule its annual conference events as virtual gatherings. Please save the date for Cure SMA’s first-ever virtual SMA Research & Clinical Care Meeting, taking place June 10-12, 2020 …

SMA Researcher Meeting ONLINE

The current state of the COVID-19 pandemic has led Cure SMA to reschedule its annual conference events as virtual gatherings. Please save the date for Cure SMA’s first-ever virtual SMA Research & Clinical Care Meeting, taking place June 10-12, 2020 …

2020 Annual Cure SMA Conference CANCELLED

This conference has been cancelled. Cure SMA has been closely monitoring news and reports of the Coronavirus (COVID-19) outbreak. The current status of the pandemic and associated governmental regulations, restrictions, and advisories, as well as the n …

2nd International Scientific & Clinical Congress on Spinal Muscular Atrophy

After the great success of SMA Europe’s first International Scientific Congress on spinal muscular atrophy in Krakow, SMA Europe are happy to announce that they will be holding a second International Congress on spinal muscular atrophy, between 5th and …

PPMD 2020 Annual Conference ONLINE

PPMD has made the difficult decision to change the format of their Annual Conference this summer, previously set to be an in-person meeting in July in Arizona. With so much uncertainty around the COVID-19 pandemic, they feel that it is best to cancel o …

18th Annual King’s Neuromuscular Disease Symposium

This educational meeting is aimed primarily at clinicians who treat patients with diseases of the peripheral nervous system and muscle. It aims to provide practical general clinical updates as well as an introduction to the science underlying neuromusc …

Rare Film Festival

Rare Disease UK is hosting the UK’s first ever film festival that is dedicated to raising awareness of rare diseases. We are inviting charities, companies, independent film-makers, students and individuals to submit their films. Our judging panel will …

UK Neuromuscular Translational Research Conference 2020 CANCELLED!

This Conference has been cancelled! Designed to engage neuromuscular clinicians and scientists, this conference showcases the best and latest developments in neuromuscular science, and highlights their translation into patient benefit.

ICNMD 2020 POSTPONED

This congress has been postponed for full, up to the minute details please visit the congress website. The International Congress on Neuromuscular Diseases, ICNMD 2020 will be taking place in Valencia, Spain, on July 10-14, 2020. The University Hospita …

Cell Symposia: Multifaceted Mitochondria

This event has been postponed due to the ongoing COVID-19 pandemic. Find out the very latest information from the Symposium Website. Our classical view of mitochondria as sites of biosynthesis and bioenergy production has dramatically expanded in recen …

14th EPNS Congress

The EPNS Congress provides an opportunity to learn about the latest developments in the rapidly evolving field of child neurology including basic science, diagnostic methods and novel treatments. You can network with colleagues and industry partners all …

2020 Myotonic Annual Conference POSTPONED

After significant discussion and careful consideration, our Board of Directors has voted to postpone our Family Conference until fall 2021

Clinical evaluation of Dystonia

This webinar was delivered by Professor Kailash Bhatia of Clinical Neurology in the Department of Clinical and Movement Neuroscience at the Institute of Neurology, UCL, Queen Square, London. Kailash is an expert in movement disorders, like Dystonia, Pa …

Translational ‘Summer’ School 2021

We have scheduled our next ‘Summer’ School to take place in Leiden, Netherlands – 6-10 December 2021! We anticipate that our face to face school will be able to be held at this time, however are still mindful that travel for attendees and speakers migh …

Save these Dates!!!

2020 is fast approaching and to help you all plan for the upcoming year we have finalised the dates and locations for both our Translational Summer School and Annual Meeting. Translational Summer School 6-10 July 2020 – Leiden, Netherlands EURO-NMD Ann …

Liis Sabre

I am working at Tartu University Hospital as a neurologist since 2014 after receiving the Degree in Medicine (MD) in 2009 and completing my residency in neurology at University of Tartu.

Tanya Stojkovic

I was born in 1966 in Paris, France, where I studied Medicine at the University Pierre and Marie Curie Medicine School of Paris. I moved in 1990 in the Medicine school of Lille, France and graduated as neurologist in 1994. I moved in Paris in 1994 and worked in Pitié-Salpêtrière until 1996. I obtained a university degree in Neurophysiology and a master in Neurobiology.

Gineta Liutkiene

Past Summer Schools

Our annual Summer School is fast becoming an estblished feature in the community’s calendar. The courses, which are delivered by key experts in the field, are kept deliberately small to ensure a high quality, truly emersive experience for all attendees …

Upcoming Summer School

 Translational Summer School 2020 will be held in Leiden, Netherlands 6-10 July Futher details of the programme and those who will deliver the various sessions will be available in due course. The applications process to attend will also be available f …

XIII. Czech and Slovak Neuromuscular Congress

Annual joint meeting of Czech and Slovak neuromuscular society. Congress languages are Czech, Slovak, and English. Please note: This congress now has a new dates in September!  

eNMD 2020 POSTPONED!

Postponement of eNMD 2020   We regret to announce that due to the current outbreak of coronavirus in northern Italy and the resulting travel restrictions that are now in place the eNMD congress has been postponed. Once a new date for the congress …

How to Reference our Network in your Publications

Please use the following when referring to the ERN EURO-NMD in any relevant publications you might contribute to. Acknowledgement for ERN EURO-NMD Situation 1. ” The two (or more) of the/several author(s) of this publication is/are (a) member(s) of the …

Hospital of Lithuanian University of Health Sciences Kauno Klinikos

New nomenclature for LGMD: patient information leaflet

A new nomenclature for LGMD was developed during the 229th ENMC workshop in Naarden, The Netherlands in 2017. This was needed because the definition of LGMD needed an update and the sub-type numbering of the recessive form reached the Z (LGMD 2Z). Cons …

Rare Disease Day 2020!

Rare Disease Day 2020 is on Saturday 29th February! We don’t think it can get more special than that! More details to follow.

6th Congress of the European Academy of Neurology

This year’s congress will now be held online The overarching theme of the congress is “Time for Action: Predict, Prevent, Repair”. The ‘red thread’ of the congress will show and demonstrate in many sessions with a rich spectrum of high-quality informat …

Diplôme Inter-Universitaire de Myologie 2019-2020

OBJECTIF Les progrès rapides de la recherche, le renouveau des concepts, l’évolution de la prise en charge des malades font désormais de la myologie un champ bien différencié de la médecine. L’objectif de l’enseignement est d’apporter aux étudiants une …

Share4Rare Myotonic Dystrophy Chapter now available!

The Share4Rare Myotonic Dystrophy chapter is now available.  The chapter describes the different types of Myotonic Dystrophy, the cause of the disease and complications associated with diagnosis. You will also find links to resources for disease manage …

Workshop and Hackathon: Molecular pathways for rare disease (FAIR) data analysis

Registration deadline 10th November 2019 The focus of this workshop is: 1. Pathway creation and curation – especially rare disease and adverse outcome pathways inspired by needs of ERNs and tox community (day 1-2) 2. FAIR data preparation (prep for pat …

Tartu University Hospital

Immune – mediated choreas

The webinar was presented by Jan Lewerenz who a is neurologist, University Hospital Ulm, Germany. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European …

Non-progressive congenital ataxia

The webinar was presented by Alfons Macaya, Hospital Universitari Vall d’Hebron, Paediatric Neurology, Barcelona, Spain. The recording of this webinar will be available here shortly in the meantime you can view the slides here. Joint webinar series by …

Neuroacanthocytosis syndromes

The webinar was presented by Adrian Danek, Ludwig Maximilian University, Cognitive Neurology, Munich, Germany. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and …

Clinical Features of Ataxia

The webinar will be presented by Bart van de Warrenburg who is a neurologist from the Radboud University Medical Center, Nijmegen, the Netherlands who is an expert on ataxia and has special interest in rare and genetic movement disorders. Joint webinar …

Call for new members to join existing ERNs

We are delighted to announce that the European Commission has launched the first call for new members to join the existing 24 ERNs. Briefly outlined, the membership application process involves several steps: Review the information that is included on …

Annelies Herman – EURO- NMD Project Assistant

Heike Pascal – EURO-NMD Project Manager

EuroBioBank

EuroBioBank network, the first operating network of biobanks in Europe providing human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases. It is the only network dedicated to rare disease research …

Ottawa NMD 2019

5th Ottawa International Conference on Neuromuscular Disease and Biology The uOttawa Centre for Neuromuscular Disease is hosting the 5th Ottawa International Conference on Neuromuscular Disease and Biology on October 17-19, 2019. The Ottawa NMD 2019 co …

Thomas Sejersen

Karolinska University Hospital

EURO-NMD Bursaries

To ensure equity of care for patients with rare neuromuscular diseases across Europe, the ERN EURO-NMD is strongly committee to boost Training and Continuous Education Programmes. Our bursary scheme is open to young researchers/doctors under the age of …

Registries Position Paper Issued by Patient Advisory Board

EURO-NMD Patient Advisory Board (PAB) has published a position paper which describes patients’ views on the design of the EURO-NMD registry, its governance, its funding. The paper, which is available to download, formalises patients’ views on the topic ahead of the call for dedicated ERN registries.

Mitochondria Symposium From Bench to Bedside

During the Global Mitochondrial Disease Awareness Week 2019 on Friday 20th September the RCMM is organizing this symposium for all scientific researchers that are working or are interested in this research field. PhD students and Postdocs are kindly in …

CLASSIFICATION OF INFLAMMATORY MYOPATHIES

Pr. Olivier Benveniste delivered the 45 minute webinar which was recorded. The webinar took place at 13:00-14:00 (London) 14:00-15:00 (Paris) on 5th December. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-R …

MYOTONIC DYSTROPHIES

This webinar took place – 13:00-14:00 (London) / 14:00-15:00 (Paris) 21 November 2019 It was presented by Pr. Benedikt Schoser, Friedrich-Baur-Institut, Munich, Germany We would like to take this opportunity to thank Benedikt for delivering this presen …

EURORDIS Digital School on Social & Digital Media

The EURORDIS Digital School aims at empowering patient advocates, working with rare diseases and rare cancers, to use digital communication tools to improve the strategic outreach and community-building capacities of their organisations. The training t …

Rare disease perspectives in Central – Eastern Europe

On September 16th 2019, a workshop “Rare disease perspectives in Central – Eastern Europe”, twinned to the General Assembly of EJP RD, will be organized in Gdansk, Poland. The main aims of this conference are discuss challenges and opportunities of rar …

RE(ACT) Congress 2020 and IRDiRC Conference POSTPONED

Postponement  of the RE(ACT) Congress and IRDiRC Conference   We regret to announce that this event has postponed due to current international travel policies. It is anticipated that this event will now take place in early 2021. The organisers of …

10th European Conference on Rare Diseases & Orphan Products – NOW ONLINE!!

ECRD 2020 will now take place online! This statement from organizers has been released. Please visit the conference website for more information. European Joint Programme on Rare Diseases serves as official partners for the 10th European Conference on …

Dominic Wells

Dominic Wells qualified from Cambridge University as a veterinary surgeon in 1984 together with a BA in Applied Biology. After several years in general practice in Nottinghamshire he attended the University of Wyoming where he obtained his Ph.D. in comparative physiology.

MD1 Action Team

Gerard Wellenberg

Gerard Wellenberg has more than 35 years of experience in the field of human and animal disease surveillance, control and eradication programs, epidemiology and the management of many research projects in the Netherlands and abroad.

Diana van der Meij-Kim

Diana van der Meij-Kim has a son who was diagnosed with FSHD at the age of 10.

FSHD Europe

Daniel Tanesse

Daniel Tanesse and his wife both suffer from Charcot-Marie-Tooth (CMT). Daniel Tanesse first joined Charcot-Marie-Tooth France as a Regional Delegate 20 years ago.

CMT-Europe

Isabela Tudorache

Isabela Tudorache has more than 15 years of experience in social support activities for disadvantaged groups, in collaboration with government and non-government organizations.

Parent Project Romania – Association for Research and Support in Muscular Dystrophy

Sandrine Segovia-Kueny

Sandrine Segovia-Kueny is the Medical Director at AFM-Téléthon. She is a doctor of medicine, graduate of the University of Nice, France.

Federación ASEM

Leticia San José

Jacques Salama is the father of a young man with Duchenne Muscular Dystrophy. After his son was diagnosed with DMD in 1990, he joined the AFM-Téléthon.

Jacques Salama

Alejandra Pereda

Alejandra Pereda has a son with Becker Muscular Dystrophy. She has been involved with Duchenne Parent Project Spain almost since the beginning of its reactivation 6 years ago.

Françoise Pelcot

Françoise Pelcot founded the French Association against Amyloidosis together with a family friend in 1994, following the loss of Paulette. She was Vice-Chairman of the association and responsible for relationships with doctors, referral centres and pharmaceutical companies.

Association Française contre l’Amylose

Alexandre Méjat

Molecular and cellular biologist by training, Alexandre Méjat is also affected by a Bethlem myopathy. He led a research team dedicated to Emery-Dreyfuss muscular dystrophy for 8 years.

Marguerite Friconneau

Marguerite Friconneau was diagnosed with Myasthenia Gravis in 1985. She has been elected as a member of the Board of Directors of the AFM-Téléthon since 2007.

Rosanna Fodera

Rosanna Fodera is the mother of a boy with a rare disease. She is the Scientific Officer of Mitocon, the Italian mitochondrial patient association promoting scientific research in mitochondrial disease and supporting mitochondrial disease patients and their families.

Mitocon – Insieme per lo studio e la cura delle malattie mitocondriali

L’AMMi – Association contre les Maladies Mitochondriales

Emma Del-Rey

Emma Del-Rey has a daughter who was diagnosed with Mitochondrial Disease. Since 2008, she is the Vice-Chair of AMMI, a French Mitochondrial Disease Organisation.

Mencía de Lemus Belmonte

Mencía de Lemus Belmonte is the mother of two children with Spinal Muscular Atrophy.

FundAME

APN – Portuguese Neuromuscular Association

Joaquim Brites

Joaquim Brites has a 28 year-old son with Duchenne Muscular Dystrophy. Joaquim Brites has been involved with APN, a Portuguese neuromuscular association, for more than 20 years.

Bobby Ancil

Judit Varadine Csapo

Judit Varadine Csapo’s younger son was diagnosed with Facioscapulohumeral Muscular Dystrophy (FSHD) 10 years ago.

Angyalszarnyak – Hungarian Muscle Dystrophy Association

David Stephenson

David Stephenson is the Neuromuscular Policy and Engagement Officer at Muscular Dystrophy UK.

ALS Liga Belgium

Italian Association against Dysimmune Neuropathies

Duchenne Parent Project Spain

Marisol Montolio

With more than 15 years of research experience, Marisol Montolio is the Scientific Director of the Duchenne Parent Project Spain and Curator of the Patient Registry, promoting scientific research in Duchenne and Becker Muscular Dystrophy.

Madelon Kroneman

Madelon Kroneman was diagnosed with Myofibrilar Myopathy (Desminopathy). Her disease started at the age of 33. She is presently a member of the diagnosis working group “Muscular dystrophies and distal myopathies” of Vereniging Spierziekten Nederland, a Dutch neuromuscular patient organisation.

Spierziekten Nederland

MDA Hellas

Ria Broekgaarden

Ria Broekgaarden is a representativeof Vereniging Spierziekten Nederland (VSN), a Dutch neuromuscular patient organisation. She coordinates diagnostical bound groups and is a project leader for SMA, Pompe Disease and Duchenne Muscular Dystrophy.

Dimitrios Athanasiou

Dimitrios Athanasiou founded the Parent Project of MDA HELLAS in Greece. Currently, he is a Board Member of the United Parent Project Muscular Dystrophy (UPPMD), a European Medicines Agency Patient Expert in Duchenne Muscular Dystrophy, and co-chairs EFGCP’s Children’s Medicine Working Party (CMWP).

Patient focussed summer newsletter now available

We are delighted that our patient focussed summer newsletter is now available to read. In this special newsletter you will find out about the Network’s Patient Advisory Board, and their all-pervasive role throughout the Network. There are interviews wi …

EURO-NMD 3rd Annual Meeting

6-8 November 2019 This year’s annual meeting was attended by approximately 100 people and was held in Ferrara, Italy. Download the final agenda for this meeting   Example cases to be discussed at this meeting Novel mutations in the ADCY6 gene asso …

Muscle Magnetic Resonance Imaging: Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts MRI

Organisers: Prof. V. Straub (UK), Prof. J. Díaz Manera (Spain), Dr G. Tasca (Italy) and Dr J. Warman Chardon (Canada)

Clinical trial readiness in nemaline myopathy

Clinical trial readiness in nemaline myopathy caused by mutations in the nebulin and actin (ACTA1) genes Organisers: Prof. L. Servais (France), Prof. C. Wallgren-Pettersson (UK), Prof. C. Bönnemann (USA)

TREAT-NMD Expert Masterclass in Spinal Muscular Atrophy

Applications open! We are thrilled to announce that TREAT-NMD is now accepting applications for the 2nd masterclass in spinal muscular atrophy (SMA). It will take place at the Royal Society of Medicine, London, UK on Tuesday 29th and Wednesday 30th Oct …

International Society of Peripheral Neurophysiological Imaging

This conference features clinicians and researchers from six continents. A wide range of specialties is represented, including neurology, radiology, physiatry, rheumatology, orthopedic surgery and many more. Our academic interest centers on integration …

Quality assurance, variant interpretation and data management in the NGS diagnostics era

This first 3-day residential training course on “Quality assurance, variant interpretation and data management in the NGS diagnostic era” will host 20 participants. The course will build on expertise gained by EuroGentest and help in the translation of …

EURO-NMD Survey

EURO-NMD Survey Please enter your name. Please enter your email address. What is the name of your HCP?(required) Does being a full ERN member make a change to your everyday clinics?(required) Yes No In which situations does the ERN help you with your w …

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EAN and EURO-NMD establishes memorandum of understanding

We are delighted to announce that our EURO-NMD has established a Memorandum of Understanding with the European Academy of Neurology. The exciting and natural synergy will help raise the profile of rare neuromuscular diseases throughout the community an …

International Summer School on Rare Disease Registries and FAIRification of Data ONLINE!

Registration for this course is open, deadline is 19 July. The course will be online on 28 September – 2 October. On the first three days module, the participants will learn (a) the resources needed for the establishment/maintenance of a high quality r …

Linking up all those data: why should we make data FAIR

Marco Roos, Leiden University Medical Center, The Netherlands Wednesday 26 September 2018 This video will explain what makes data Findable, Accessible, Interoperable and Reusable (FAIR) and why it is critical that different types of information, such a …

Finding registries and biosamples in just a few clicks: RD-Connect Registry & Biobank Finder and Sample Catalogue

Mary Wang, Fondazione Telethon, Milan, Italy Tuesday 18 September 2018 This video demonstrates how to use two tools that will help you quickly identify patient registries in Europe and beyond that hold data on your disease of interest. They also let yo …

Genomic analysis quick and easy: RD-Connect Genome-Phenome Analysis Platform

Steven Laurie, Centro Nacional de Análisis Genómico, Barcelona, Spain Thursday 6th September 2018 This video will demonstrate how to use the powerful and user-friendly analysis tools in the GPAP to interpret, filter and prioritise your variants to iden …

AMYLOID NEUROPATHIES: UPDATE IN 2019

This webinar was delivered on Thursday 18th April 2019 by Professor David Adams from Bicêtre, Paris. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the Europ …

CPMS Webinar: FAQ & A

The CPMS webinar was presented by the CPMS Support DG SANTE looked at questions which are frequently asked by CPMS users. The webinar took place on 23rd May at 14:00 (CET) Download a recording of this webinar. Joint webinar series by the European Refer …

MITOCHONDRIAL DONATION

This webinar will be presented by Professor Robert McFarland from Newcastle University in the UK. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European …

DIAGNOSTIC IMAGING IN NMD: THE BASICS

This webinar was delivered by Pierre Carlier from the Institut de Myologie on 24th October 2019. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European …

Webinars

EURO-NMD provide educational webinars on a monthly basis to increase the knowledge around different specialist areas related to the neuromuscular field. Each webinar lasts approximately one hour with the opportunity for viewers to ask questions on the …

Meeting Report from Myology 2019

Overview Myology 2019, was the sixth edition of the international congress of myology organized by AFM-Telethon, took place in Bordeaux, France, from March 25 to 28. More than 800 researchers and scientific experts from 35 countries worldwide gathered …

2019 Semi-Annual Board members meeting

Registration for our first semi-annual board meeting is now open. We would look forward to seeing as many EURO-NMD Board, Executive Committee and Patient Advisory Board Members as possible in Paris and encourage you to register to attend as soon as pos …

Translational Summer School 2019

This year’s translational summer school has now finished. Organised in association with TREAT-NMD, this course has been especially developed for researchers and clinicians interested in translational research. The week-long course addressed the followi …

Share4Rare’s new video

The Share4Rare project includes the creation of a large social network that, unlike conventional forums, incorporates proven mathematical algorithms that have been successfully used in many wider platforms that have been specifically designed to bring …

Euromit 2020 POSTPONED!!

Euromit2020 has been postponed due to the COVID-19 outbreak. For further information please visit the Euromit2020 website. The largest international conference on mitochondrial disease, Euromit, will be held from 14–17th June 2020 in Newcastle/Gateshea …

World Muscle Society 2021

WMS 26: Prague, Czech Republic, 21-25 September 2021

World Muscle Society 2020 Online

The 25th International Congress of the World Muscle Society will be held virtually, a first for the WMS! The virtual meeting will still provide a multidisciplinary scientific forum to advance and disseminate knowledge in the neuromuscular field, with o …

World Duchenne Awareness Day

World Duchenne Awareness Day is now in its sixth year with events around the world. The World Duchenne Organization (WDO) have created an awareness campaign ‘Together, we are stronger’ where they show that even in the COVID emergency, they can turn neg …

EURO-NMD Webinar – Diagnosis & treatment of CIDP associated to antibodies against node of Ranvier

EURO-NMD are inviting you to a webinar presented by Dr Emilien Delmont on the subject of Diagnosis and treatment of CIDP associated to antibodies against node of Ranvier, the details are below. The webinar will take place on Thursday 21st March 2019 at …

DIAGNOSIS AND TREATMENT OF CIDP ASSOCIATED WITH ANTIBODIES AGAINST NODE OF RANVIER

EURO-NMD delivered a webinar presented by Dr Emilien Delmont on the subject of Diagnosis and treatment of CIDP associated to antibodies against node of Ranvier, the details are below. The webinar took place on Thursday 21st March 2019 at 13:00-14:00 (G …

Sabine Borell

Database of shared samples…

…through deposition at biorepositories & omics data with associated phenotypic data via submission to databases & RD-Connect   Rare disease research area has a significant demand for the biological samples and associated phenotype and ge …

Action Duchenne Annual International Conference 2019

We welcome researchers, scientists, clinicians, healthcare professionals and Duchenne families from all over the world. UK’s biggest and best conference for Duchenne to meet the people working hard behind the scenes to find treatments for Duchenne. Mee …

GNE myopathy workshop report – publication now available

Participants of the 237th ENMC workshop which was held in June 2018, reviewed the current medical and scientific knowledge relevant to GNE myopathy to achieve a better understanding of GNE myopathy epidemiology, phenotype and genetics. They agreed on a …

Rare Disease Day 2019!

Rare Disease Day 2019!! Find out what happened in February by visiting the Rare Disease Day website People around the world are joining the global movement for rare diseases by taking part in the #ShowYourRare campaign, holding events and raising aware …

Clinical Patient Management System (CPMS)

The Clinical Patient Management System (CPMS) aims at supporting ERNs in improving the diagnosis and treatment of rare or low prevalence complex diseases across national borders of Member States in Europe. The system enables healthcare professionals to …

Collaborative Platform

The Collaborative Platform is used to share information relating to EURO-NMD such as agendas, events, minutes and Healthcare Provider Information. It’s important for ERN members to be a part of the platform in order to keep up to date and have access t …

EURO-NMD Webinars OLD

EURO-NMD provide educational webinars on a monthly basis to increase the knowledge around different specialist areas related to the neuromuscular field. Each webinar lasts approximately one hour with the opportunity for viewers to ask questions on the …

How ERNs are approved?

EU Member States play the lead role in the designation and development of European Reference Networks. To achieve ERN status, network members applied to a Call from the European Commission. This application was assessed by an Independent Assessment Bod …

Adding value for patients and professionals

Patients with rare and complex diseases can spend years without a clear diagnosis. It can be a frustrating and dispiriting experience for patients and their families. Many people living with these conditions are children whose development is severely a …

What are ERNs?

To review a patient’s diagnosis and treatment, ERN coordinators convene ‘virtual’ advisory boards of medical specialists across different disciplines, using a dedicated IT platform and telemedicine tools. ERNs offer the potential to give patients and d …

Why rare diseases?

Between 5 000 and 8 000 rare diseases affect the daily lives of around 30 million people in the EU. For example, in the field of oncology alone, there are almost 300 different types of rare cancers and each year more than half a million people in Europ …

CPMS Helpdesk

The Clinical Patient Management System is now available to use and healthcare professionals can begin using the platform. A Helpdesk website has been set up in order to assist with any queries or problems users may experience when trying to use the sys …

Accessing and Using the CPMS

Requesting Access Using the CPMS Test version of the CPMS ERN Database/Registries – Researcher Role Requesting Access to the CPMS There are several steps involved before a user can gain access to the CPMS. In order to request a CPMS profile the user mu …

Imaging in Neuromuscular Disease 2019

This interdisciplinary conference will be held in Berlin from Sunday 17th to Tuesday 19th of November 2019. The conference program will feature internationally-recognized keynote speakers highlighting developments and advances in all aspects of muscle …

Phillippe Couratier

Jochen Weishaupt

Alex Rossor

ERNs feature in new European Commission campaign

European Reference Networks are beginning to have a real impact on the day to day lives of people across Europe who are living with rare diseases. The video below forms part of the awareness raising campaign #EUProtects. Through the EU’s epilepsy healt …

RE(ACT) Congress 2019

The RE(ACT) Congress – International Congress on Research of Rare and Orphan Diseases – was initiated in 2012 by the BLACKSWAN Foundation to create a forum for and promote scientific cooperation and research on rare and orphan diseases. The Congress ai …

LUMC

Peter-Bram t Hoen

Baziel van Engelen

Baziel van Engelen, MD, PhD is professor in neuromuscular diseases and is working as a neurologist at the Radboud University Medical Centre since 1996. He has had a strong interest in neuromuscular diseases, especially myotonic dystrophy, facioscapulohumeral dystrophy, oculopharyngeal spierdystrophy, inclusion body myositis and neuralgic amyotrophy. Currently he is head of the neuromuscular section at the Neuromuscular Centre Radboudumc and a board member of the Netherlands Neuromuscular Centre. He was member of various scientific advisory boards: Muscular Dystrophy UK, FSH Global, Italian Telethon, Scientific Panel Translational Neurology of the European Academy of Neurology, and is co-chair of the research working group of EURO-NMD, and board member of the European Network of reference centres for rare neuromuscular diseases.

Institute of Myologie

Gisele Bonne

Catholic University School of Medicien

Inselspital Bern University Hospital

University of Gothenburg

University Federico II of Naples

Lucio Santoro

Jean-Philippe Plançon

Jean-Phillipe Plançon has been living with a rare peripheral neuropathy since 2000. He founded the French Association against Peripheral Neuropathies in 2006 and is co-founder of the French Alliance of Rare Peripheral Neuropathies Patients Associations.

Anders Oldfors

Giorgio Tasca

Olivier Scheidegger

Robert-Yves Carlier

David Beeson

Pieter van Doorn

Nadine van de Beek

Benedikt Schoser

Carlos Vrins

Camiel Verhamme

Florence Duguet

Evy Reviers

Evy Reviers is the daughter of a patient living with Amyotrophic Lateral Sclerosis (ALS). As Chief Executive Officer of ALS Liga Belgium since 2006, Evy Reviers performs the general management of the organisation and coordinates the support to Belgian ALS patients.

MDF Annual Conference 2019

Information about the conference will be available in due course. If you have any questions in the meantime please contact MDF at 415-800-7777 or via email.

Official report from 4th European Reference Network Conference now available

Health professionals, researchers, patient organisations and policymakers gathered in Brussels on 21 & 22 November for the 4th European Reference Networks Conference. The well-attended and lively event featured two full days of presentations and debate …

RD-Connect Webinars

We are delighted to announce that the series of RD-Connect webinars are now available online. As part of a close working relationship between EURO-NMD and RD-Connect three informative webinars were organised for those researchers involved in ERNs. Thes …

General Information: EURO-NMD Annual Meeting 2018

This post is dedicated to providing some general information regarding the EURO-NMD Annual Meeting 2018 including travel options, nearby facilities and accommodation. When: 29th November-30th November 2018 Where: Motol University  Hospital, V …

XXIV World Congress Of Neurology-WCN 2019

Join The XXIV World Congress of Neurology (WCN 2019) taking place in Dubai, United Arab Emirates on October 27 – 31 2019, hosted by the Emirates Neurology Society. The EMINS is the largest neurology organisation in United Arab Emirates and regularly ho …

24th International Annual Congress of the World Muscle Society

The World Muscle Society are delighted to invite you to attend the 24th WMS annual congress, which will be held in the heart of Copenhagen in the old Tivoli Garden Concert Hall and adjoining buildings. Join WMS for the networking reception to be held o …

Translational Summer School

Our annual summer school, which in association with TREAT-NMD, is especially developed for researchers and clinicians interested in translational research. The week-long course addresses the following aspects as it travels along this established pathwa …

13th European Paediatric Neurology Society (EPNS) Congress 2019

Further details about this year’s EPNS meeting will appear here in due course. Important dates to remember On-line Registration opens: 15 June 2018 On-line Abstract submission opens: 17 September 2018 Abstract submission deadline: 4 February 2019

Submit Clinical Case Abstract 2018

Abstract submission has now been closed to allow us to prepare for the upcoming meeting.  

RD-Connect webinars now available online

We are delighted to announce that the series of RD-Connect webinars are now available online. As part of a close working relationship between EURO-NMD and RD-Connect three informative webinars were organised for those researchers involved in ERNs. Thes …

RD-Connect

RD-Connect: an integrated platform for rare disease research RD-Connect is an EU-funded platform that enables researchers and clinicians easily access, analyse and exchange information about rare diseases. By connecting different data types – omics (e. …

Solve-RD

Solve-RD is a large European research project funded by the EU for five years (2018-2022) under Horizon 2020. The consortium will work directly with four European reference networks (ERNs) to improve the diagnosis of rare diseases. The main ambitions a …

TREAT-NMD

TREAT-NMD is a network for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. Since its launch in January 2007 the network’s focus has been on the development o …

30th International Symposium on ALS/MND

The key to defeating MND lies in fostering strong collaboration between leading researchers around the world, and sharing new understanding of the disease as rapidly as possible. This was the MND Association’s rationale behind the creation of the Inter …

Publication Search

Please find below a list of publications which we think might be of interest to our network and the wider community. Currently, this is not a comprehensive list and we will be updating it on a regular basis. How to reference our network in your publica …

RD-Connect announces educational webinars for ERN Stakeholders

As part of a close working relationship between EURO-NMD and RD-Connect we are delighted to announce a series of highly relevant and informative webinars for any researchers who are involved in an ERN. RD-Connect enables scientists and clinicians aroun …

Funding Opportunities

When we become aware of any upcoming funding opportunities that we think might be of interest they will included here. Currently we are unaware of any funding calls.

6th TREAT-NMD International Conference

The previous two TREAT-NMD conferences which focused on translational medicine in inherited neuromuscular diseases were complete sell outs. The aim of this upcoming international conference is to share progress and lessons learned in the area of transl …

Recommended Guidelines

Our network group members have currently identified the follow guidelines that they regularly rely upon and find very valuable for many aspects of their day to day work. This list below (which you can filter by disease) is under constant review as we a …

Volker Straub

Professor Volker Straub was founding joint co-ordinator of TREAT-NMD and is an executive board member of the World Muscle Society. He is the deputy director of the Institute of Genetic Medicine and the director of the John Walton Muscular Dystrophy Research Centre, which is supported by Newcastle University and the Newcastle Hospitals NHS Foundation Trust.

Neuromuscular Summer School 2018 – Report

The first Neuromuscular Translational Summer School was devised and developed by Professor Annemieke Aartsma-Rus (LUMC, Netherlands and Newcastle University, UK), Silvere van der Maarel, (LUMC, Netherlands) and Dr Teresinha Evangelista (Newcastle Unive …

Voting for Italian Coordinator

Voting closed on 16th July (noon – CET).  

Test home

Kate Bushby announces her retirement

After 29 years at Newcastle University, Professor Katie Bushby MD FRCP has announced her retirement as Professor of Neuromuscular Genetics and as coordinator of our ERN from the end of May 2018. Whilst her presence will be hugely missed, Katie’s influe …

Sorry to see you go

Thanks for getting back to us – we’re sorry to see you go. Don’t  forget you can always chnage your mind by resubscribing or accessing our newsletters via the website instead.

Share4Rare hosts co-creation workshop

Share4Rare hosted a co-creation workshop on Friday 18th May at MDA Hallas in Athens, Greece. Content for the S4R platform was reviewed by patients and patient advocates for content and readability. Based on a socially innovative approach, and building …

Thanks for consenting

Thanks for consenting to receive the EURO-NMD newlsetter which we aim to send out about once a month. Please note: this consent only is applicable for our newsletter and therefore will only be used for this purpose. Don’t forget you can always unsubscr …

Patient representation in our network

In the field of neuromuscular diseases, highly active patient organizations have historically been a key in the generation of disease-specific training and information material for healthcare professionals as well as patients, and in the development of …

Summer School Programme now available

A more detailed version of our translational summer school programme is now available on our website. We are still accepting applications for our summer school, which is run in association with TREAT-NMD which will be held in Newcastle 2-6 July 2018. S …

Privacy policy

This website is hosted, maintained and developed by some of the staff at the John Walton Muscular Dystrophy Research Centre (JWMDRC) who work on this project. This page explains when and why we collect personal information about people who visit and in …

Jan Verschuuren

Jan Verschuuren is working as a clinical neurologist at the Leiden University Medical Centre (LUMC) since 1995. He always has had a strong interest in neuromuscular diseases, especially myasthenia gravis, and Duchenne and Becker muscular dystrophy. Currently he is head of the clinical neuromuscular section, as well as head of the department of Neurology, at the Leiden University Medical Center.

Leiden University Medical Center

Care and Trial Site Registry

One of the major organizational hurdles to overcome before initiating a clinical trial is identifying those trial sites capable of recruiting enough patients and offering a specific standard of care and experience in clinical trials. The concept of est …

Press release following the rare diseases day and 1 year anniversary of ERNs

The computer networks are up and running and rare disease patients are starting to enter their data. A year after their launch, the European Reference Networks are looking ahead to what it will take to truly perform their mission: connect patients with …

Academic articles

Our network board members have spotlighted the academic articles included below which have been peer reviewed and published in various reputable journals. They have been specifically chosen for their academic merit and their practical use for the wider …

Family Care

Our network is currently in the process of identifying and subsquently targeting a number of areas where the development and implementation of standarised protocols and guidelines would most benefit the neuromuscular community. In addition to developin …

Networks of Note

We would like to highlight the following projects and networks. We believe they will be influential in the community’s future research environment.          

Job Vacancies

Any upcoming job opportunities that we think might be of interest will included here.   WEBMASTER & COMMUNITY MANAGER (M/F) THE INSTITUTE OF MYOLOGY Located in Paris at the heart of Europe’s largest hospital, the Pitié-Salpêtrière, the Institu …

Accommodation in Newcastle

    Hotel Description Rate External Link   The Caledonian Hotel Osborne Road Jesmond Newcastle upon Tyne NE2 2ATTel: 0191 281 7881Fax: 0191 281 6241Email: info@caledonian-hotel-newcastle.com The Caledonian hotel Newcastle, is located in the heart …

Position statement from the ERN Coordinators

Released on 28 February 2018 – RARE DISEASE DAY! As Coordinators of the 24 European Reference Networks (ERNs), we stand together and united with our 900 strong members (healthcare providers) and the patient community, in the fight against rare diseases …

Rare Disease Day 2018!

The last day of February is Rare Disease Day. This is the day of the year above all others that as a community we try to raise awareness amongst the general public, policy makers, public authorities, industry representatives, researchers, health profes …

Healthcare provider resources

This page has been created to enable our Healthcare Providers to submit information such as contact details, publication information and more, for inclusion on the network’s website via a series of online forms which are available below. Add or update …

Publications

Please find below a list of publications which we think might be of interest to our network and the wider community. Currently, this is not a comprehensive list and we will be updating it on a regular basis. Publication Title (like) Journal SubmitReset …

Share4Rare – the project to develop a new collective awareness platform for social innovation launches!

Based on a socially innovative approach, and building on citizen science and collective intelligence, the Share4Rare Project will engage and connect all relevant stakeholders towards improving quality of life, disease management and collection of scien …

Test feed

Feed information goesin here

Friday 6th July

10.30 – Participant presentations – chaired by Teresinha Evangelista and Silvere van der Maarel We ask each group of 3-4 participants to prepare a 10-15 minute talk Who they are and what they expected from the summer school The things they learnt How t …

Thursday 5th July

Patient communication workshop Importance of patient communication     10.00 – 15.00 – Communication workshop by behavioral scientists Objective: During this workshop participants will learn about unconscious processes, association and framin …

Wednesday 4th July

9.00 – Biomarkers Pietro Spitali and Andreas Roos Objective: to explain why types of biomarkers exist and how they can be used in trial planning and as outcome measures, the regulatory perspective on biomarkers, highlighting ongoing networking efforts …

Tuesday 3rd July

9.00 – Feedback from TACT review session Annemieke Aartsma-Rus Objective: align on strengths and weaknesses and outstanding questions identified by the groups   Session 2 – Clinical trials   9.30 – Introduction to clinical trials Michela Gugl …

Monday 2nd July

11.00 – Arrival and registration 11.30 – Welcome Teresinha Evangelista and Annemieke Aartsma-Rus 11.45 – Brief round of introduction 12.15 – Lunch Session 1: Translational lifecycle 13.00 – Overview of bench to bedside research Annemieke Aartsma-Rus Ob …

Joanna Das

Rebecca Leary

Apply now

Please complete the form below to apply for a place on our summer school in 2018. Early bird registration is available until 28th February 2018. Early bird registration – €400 Standard registration – €500 We will be in touch in due course to let you kn …

Nemo Clinical Center

Valeria A Sansone

What to do in and around Newcastle

Whilst you’re in the area you might want to spend a few days longer here and explore this part of the world. Newcastle and Gateshead offers a wealth of diverse activities for those visiting the region. From visiting arts and cultural venues to sampling …

Programme Committee

Annemieke Aartsma-Rus Leiden University Medical Center – Netherlands & Newcastle University – UK Teresinha Evangelista Newcastle University – UK Silvere van der Maarel Leiden University Medical Center – Netherlands

Programme

2nd-6th July Institute of Genetic Medicine Newcastle University Newcastle-upon-Tyne UK Download our finalised summer school programme at a glance Monday 2nd July Translational lifecycle Bench to bedside research Preclinical research tools Regulatory sy …

Apply for a place

Please complete the form below to apply for a place on our summer school in 2018. Standard application fee – €500 (meals and materials included) Applications for the 2018 Summer School are now closed Please note – you will be responsible for booking an …

Our Translational Summer School 2018

Our first ever summer school was a course was especially developed for researchers and clinicians interested in translational research. This course addressed the following aspects as it travels along this established pathway. Bench to bedside research …

Venue

Newcastle University Ridley 2 Building Lovers Lane Newcastle upon Tyne NE2 4AA – United Kingdom   Getting to Newcastle By Air Located 13km (8miles) north of the city centre Newcastle Airport is served by many airlines providing direct links from c …

EURO-NMD presents about care guidelines at TREAT-NMD Conference

As part of the care session in the TREAT-NMD conference Teresinha Evangelista talked about how our ERN can help develop and implement care guidelines for neuromuscular diseases. After a quick overview, Teresinha looked at how the ERN reduces geographic …

Alexander Rossor

Dr Alexander Rossor is an honorary consultant neurologist at the National Hospital for Neurology and Neurosurgery, London. He is also a Wellcome Trust post doctoral clinical fellow. His clinical and research interest are the inherited peripheral neuropathies.

Sabrina Sacconi

Sabrina SACCONI is Professor of Neurology at Nice University Hospital (France), now recognized as Reference Center for rare Diseases.

CHU Nice

Shahram Attarian

Head of referenece center for neuromusculars disorders ans ALS Coordinator of reference centers of PACA- Réunion-Rhôn-Alpes (Marseille , Lyon, Nice, Saint Etienne , Reunion island) MD, PhD

Centre Hospitalo-Universitaire La Timone – Assistance Publique des Hôpitaux de Marseille

2017 Posters

Consortium (NeMusChALS), an integrated highly specialized and collaborative structure for clinical expertise, care and translational research for neuromuscular diseases from childhood to adulthood. E-Health and Innovation to overcome barriers in neurom …

Prof. Vincenzo Silani MD

IRCCS Istituto Auxologico Italiano

Borut Peterlin

University Medical Center Ljubljana

Register for the CPMS

Assistance Public Hopitaux de Paris

WMS 2017 Poster

EURO-NMD poster highlighted at WMS

We are delighted to announce that the EURO-NMD poster was chosen for the poster highlights session of the recent World Muscle Society conference in St Malo, France. Teresinha Evangelista presented the poster which focused on the structure, function and …

Update or add contact information

If you are officially involved with our ERN and would like your personal information adding or updating on this website please fully complete the following form. Please note – all previous information on the website will be written over with informatio …

Radboud University Medical Center

Jana Haberlová

Jana is a paediatric neurologist based in Department of Paediatric Neurology in University Hospital Motol in Prague, Czech Republic. Jana was trained as an adult neurologist, and has now been working for 18 years as a paediatric neurologist and electrophysiologist.

Faculty Hospital Motol

Anna Kostera-Pruszczyk

SPCSK, Medical University of Warsaw

Michael Hails – EURO-NMD Communications Manager

Coordination Team of EURO-NMD

The EURO-NMD coordination team are based in the John Walton Muscular Dystrophy Research Centre at Newcastle University. The team is led by EURO-NMD coordinator Tesresinha Evangelista.   Teresinha Evangelista – EURO-NMD Coordinator Assistance …

We’ve published our first newsletter!

We are delighted to announce that we have recently published our first newsletter which was sent out directly to over 200 people. We aim to publish our newsletter monthly to highlight recent ERN developments around both the network and platforms. We wi …

University Medical Centre Utrecht

Ulrike Schara

Ulrike Schara is a paediatric neurologist at the university hospital in Essen, Germany. She has a long-standing clinical interest in muscle disorders and CMS. She has recently started to build a patient registry for CMS in collaboration with TREAT-NMD.

Wolfgang Mueller-Felber

Board certified neurologist, psychiatrist, pediatrician, child neurologist. Work in the neuromuscular field since 1985. Since 2007 Head of the centre of pediatric neuromuscular diseases at the v. Hauner children hospital, University of Munich. Since 1985 working in the field of neuromuscular diseases (adult and pediatric)

Department of Pediatric Neurology, Dr. v. Hauner Children’s Hospital

J. Andoni Urtizberea

J. Andoni URTIZBEREA, (MD, MSc), aged 58, is certified in paediatrics and PMR (physical medicine and rehabilitation) from Paris University, France. He also graduated from the Institut d’Etudes Politiques de Paris in 1987 cum magna laude. As Scientific Director of the European Neuromuscular Center (ENMC) and former Medical Director of the AFM-Telethon (the French MDA), he contributed to the establishment of many worldwide networks in myology, an emerging discipline dedicated to muscle and related disorders.

Susana Quijano-Roy

Child neurologist trained originally in Spain (Madrid). Professor of Paediatrics (University Versailles-St Quentin). Head of the neuromuscular unit at Garches Hospital. Involved notably in congenital muscular dystrophies and SMA. Member of many international consortia notably in standards of care.

University Hospital Raymond-Poincaré APHP

EAN features interview with Mary Reilly

The EAN (home of neurology) website features an inteview with Mary Reilly who is President of the Peripheral Nerve Society (PNS) and one of our Executive Committee members. In the interview Mary touches upon the exciting developments around inflammator …

Update Healthcare Provider Information

These initial details won’t appear on the website. We want to be able to get in touch with an appropriate person if we have questions about the information recorded on this form. We will only use this information if we need to get in touch with you abo …

Focusing on improving patients’ health outcomes: the role of patient organisations

ERNs are about patients. Patient organisations and, in particular, EURORDIS, have played an active role in the development of the networks for more than a decade, helping to ensure that the priorities will be to enhance clinical excellence and to impro …

Frequently asked questions

Vytenis Andriukaitis, European Commissioner for Health and Food Safety, says the value of EU collaboration is particularly clear in the case of rare and complex diseases. What inspired the creation of the European Reference Networks? We often hear trag …

A ray of hope for patients with rare & complex diseases, their families & doctors

This video that originates from the Commission’s website gives a comprehensive overview of the networks whilst also introducing a number of concepts, ideas and key people. Please be aware that this video will require a large amount of data to be shown …

Save the date – 29-30 November

Save the date for our meeting in Freiburg! We’re currently developing an exciting programme for this our first face to face meeting. This will be an excellent opportunity for all attendees to forge those all important new network relationships during t …

3rd conference on European Reference Networks – a report

The 3rd official European Reference Network (ERN) conference took place in Vilnius, Lithuania, on the 9th of March. The event was well attended by around 600 healthcare providers, patient representatives, policy makers and health experts. The conferenc …

HCP2

Healthcare Provider Country:  Austria  Belgium  Bulgaria  Cyprus  Czech Republic  Denmark  Estonia  Finland  France  Germany  Hungary  Italy  Latvia  Lithuania  Luxembourg …

DMD Research overview

The Duchenne muscular dystrophy (DMD) research overview section of the TREAT-NMD website is regularly updated by Annemieke Aartsma-Rus and provides information about the different therapuetic approaches to DMD. The aim of overview is to inform patients …

Operating procedures and protocols

Preclinical research The preclinical phase of research is so critical to the decisions made about a possible future therapy hence, it is very important that experiments done at this stage are based on best practice. This means both choosing the most ap …

Accommodation

There are a number of hotels around Freiburg that will suit a variety of budgets some of which are listed below. Please note Freiburg has a 5% accommodation tax for tourists. People staying in Freiburg for business reasons are exempt from this tax.To b …

Annual Meeting 2017

On Thursday 30th November EURO-NMD held its first annual meeting in Freiburg, Germany. All our 61 healthcare providers (HCPs) from across Europe were offered a free registration along with a bursary for travel and accommodation. The remainder of the 12 …

Research

Few patients with a neuromuscular condition currently benefit from effective or curative therapies, and many do not have a definite diagnosis. Uniting healthcare and research would begin to address this and is therefore in the best interests of patient …

Eugenio Maria Mercuri

Fondazione Policlinico Universitario A. Gemelli

AFM Téléthon

2017 Meeting

29-30 November 2017 Merchants’ House Münsterplatz 24 79098 Freiburg im Breisgau Germany We would like to invite those of you involved in our ERN and interested parties to our first face to face meeting which will take place in the centre of historic Fr …

Register here

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University Hospital St. Anna

Jackie Palace

Davide Pareyson

Davide Pareyson, MD, is a Clinical Neurologist working at the Fondazione IRCCS Istituto Neurologico C.Besta (FINCB) of Milan, Italy, where he is Head of the Functional Department of Rare Neurological Diseases and Chief of the Simple Dept. Unit of “Rare Neurological Diseases of Adulthood”.

Fondazione IRCCS, Istituto Neurologico C.Besta

Tiziana Mongini

1981 Torino, University of Torino, MD degree; 1985 Torino, University of Torino, Board in Neurology. 1982-1983: Research fellow H.H. Merritt Clinical Research Center for Neuromuscular Diseases – Columbia University, directed by prof. S. DiMauro and L.P. Rowland, New York, USA October 1985 – September 1987: Torino, Clinica Neurologica II – University of Torino, Research Fellow February – June 1989: ‘Visiting Scientist’ H.H. Merritt Clinical Research Center for Neuromuscular Diseases – Columbia University, New York 1988 – 2000: “Assistant Professor” with clinical appointment, Department of Neurosciences, University Hospital S. Giovanni Battista di Torino 2000 to present: Neuromuscular Disorders Unit (Regional referral center, with annexed Laboratory for Neuromuscular Diseases) Hospital “Città della Salute e della Scienza di Torino” 2012 to present: Associate Professor in Neurology, Department of Neurosciences ‘Rita Levi Montalcini’, University of Torino, Italy 2000: Founder Member of the Italian Association of Myology; 2000-2006 Secretary; 2006-2009 President 2007-2011: President of the National Scientific Committee of the Italian Association for Muscular Dystrophy (UILDM) 2012-2015: Chair of Muscle Panel, EFNS (European Federation of Neurological Societies) 2016-to present: member of the Scientific Panel on Muscle and Neuromuscular Junction Disorders of EAN (European Academy of Neurology) Since 1982, the main fields of interest included the diagnostic and assistential processes for patients with neuromuscular disorders, in particular muscular dystrophies, metabolic myopathies, congenital myopathies and dystrophies, congenital myasthenia, SMA. The main field of research has concerned neuromuscular disorders (clinical trials, genotype-phenotype correlations, advanced diagnostic procedures and protocols, biochemical features) , as demonstrated by 118 full papers published on covered journals and the active participation in many national and international congresses as invited speaker.

Azienda Ospedaliera Universitaria Città della Salute e della Scienza di Torino

Adriano Chio

Gauthier Remiche

Centre de Référence Neuromusculaire Erasme-HUDERF

Antonio Toscano

University of Messina

Disease Treatment

Effective treatment of NMDs requires a multidisciplinary team experienced in the specific clinical needs of the conditions. With this in mind the following ‘sub-groups’ have been formed: muscle, nerve, motor neuron, mitochondrial and neuromuscular junc …

Diagnosis

Often patients often don’t manage to get an accurate diagnosis in a reasonable time frame, something which can impact on survival and quality of life. Even patients with a condition diagnosable with existing gene tests typically wait 7 years for diagno …

Leonard van den Berg

Leonard H. van den Berg is a professor of neurology who holds a chair in experimental neurology of motor neuron diseases at the University Medical Center Utrecht in the Netherlands. He also is director of the center’s Laboratory for Neuromuscular Disease, director of the Netherlands ALS (amyotrophic lateral sclerosis) Center, chairman of the Neuromuscular Centre the Netherlands, and chairman of the European Network to Cure ALS (ENCALS), a network of the European ALS Centres.

Marianne de Visser

Marianne has been the leader of the neuromuscular group at the Academic Medical Centre in Amsterdam in the Netherlands for more than 20 years. During this time her group has contributed to research on muscular dystrophies, myositis, motor neuron diseases and hereditary neuropathies. She and others have initiated and implemented the core curriculum on neuromuscular disorders for neurologists in The Netherlands.Education: Medical Faculty: University of Amsterdam. Graduated in 1975. Training in Neurology (Academic Hospital of the University of Amsterdam) 1976-1980 PhD Thesis 1981: Becker muscular dystrophy: a neurological, cardiological and compu¬ted tomographic study. Academic Position: Neurologist, Professor of Neuromuscular Diseases since 1993, Academic Medical Centre (AMC), University of Amsterdam, The Netherlands. Publications: Over 170 publications in peer-reviewed international medical journals, mainly in the field of neuromuscular diseases (muscular dystrophies, post polio syndrome, hereditary neuropathies, myositis, motor neuron disease), and about 20 (contributions to) medical books. Editorial experience: Editorial board of Clinical Neurology and Neurosurgery, Neuromuscular Disorders. Reviewer for manuscripts from various journals (Annals of Neurology, Archives of Neurology, Neurology, Muscle & Nerve, Neuromuscular Disorders, Clinical Neurology, Neurosurgery and Psychiatry, Journal of Neurology, Human Mutation, European Journal of Neurology, Lancet Neurology) and reviewer of grants for funding organisations (Italian Telethon, Association Française contre les Myopathies, British Muscular Dystrophy Campaign, Medical Research Council, German Federal Ministry for Education and Research, E-Rare), Orphanet.

Pierre Carlier

Dr Pierre Carlier is a leading specialist in magnetic resonance imaging and spectroscopy of muscle with a particular interest in its development as a quantitative outcome measure. One of the main goals of Pierre’s lab at the Institut de Myologie is to move from qualitative and semi-quantitative evaluation to truly quantitative imaging measurements, which are essential to ensure the clinical relevance of high-technology imaging procedures. Developing and refining these quantitative techniques may enable the detection of very early and pre-clinical signs of a positive response to treatment, thus making MRI and MRS potentially attractive outcome measures in trials. Pierre is developing standard operating procedures for the use of certain quantitative techniques and is engaged in numerous research projects further developing MRI&S as a non-invasive diagnostic tool and outcome measure.

Alessandra Ferlini

Alessandra Ferlini (MD) is specialized in Medical Genetics (University of Ferrara) and Neurology (University of Bologna), and PhD in genetics (Imperial College, London). She is associate professor in medical genetics, director of the Medical Genetics Unit at the University of Ferrara (Italy), honorary visiting professor at University College of London, member of neuromuscular disease research and care networks, as TREAT-NMD Alliance, European NeuroMuscular Centre. She coordinated EU research grants on rare diseases (FINGER, BIO-NMD) and was/is full partner in other EU grants, as NMD-CHIP, SIGN, Neuromics. She is PI in innovative trials for muscular dystrophy and involved in gene discovery by omics researches. Her researches are also focused on novel nanodelivery systems for molecular therapies. She is head of the Medical Genetics Unit in Ferrara and lead the all diagnostics tasks (molecular cytogenetic s, counselling), providing molecular diagnosis for more than 120 different phenotypes, including 80 genes responsible for neuromuscular diseases. She is also involved in national and local Ethical Committees.

Rita Horvath

Rita Horvath is a clinical academic who was trained as a neurologist in Budapest, Hungary. She started laboratory research in Professor Eric Shoubridge`s laboratory at the Montreal Neurological Institute and completed her PhD on mitochondrial disease. She has been working in mitochondrial diagnostic and research in Munich before 2007, when she was appointed as Lecturer in the Mitochondrial Research Group at Newcastle University. She has established her own research group on mitochondrial translation deficiencies and obtained substantial funding from the MRC and ERC. Rita has been promoted to Professor of Neurogenetics in 2013. As a clinician, she developed a new service in Newcastle and follow up a large number of patients with inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT), which is a base for expanding research activities. The main focus of her research is to identify the molecular basis of disease with the aim of developing treatments for patients with rare inherited neurological conditions, such as mitochondrial disease and CMT.

Hanns Lochmüller

Hanns Lochmüller, MD, FAAN, has a long-standing interest in neuromuscular disorders and translational research, and has published more than 450 articles in peer-reviewed journals. He has led successful networking and research activities such as EuroBioBank, the TREAT-NMD Alliance, the TREAT-NMD global database oversight committee, the IRDiRC interdisciplinary science committee and RD-Connect.

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Andrés Nascimento

Yann Pereon

1985-1990 Medical Resident, Neurology, Assistance Publique – Hôpitaux de Paris, Paris, France. 1991-1994 Neurologist, Assistant Professor, Laboratoire d’Explorations Fonctionnelles, Hôtel-Dieu, University Hospital, Nantes, France. 1994-1996 Post-doctoral fellow, Dept. of Physiology & Biophysics, University of Texas – Medical Branch, Galveston, Texas, USA. 1997-2004 Associate Professor of Physiology, Dept. of Physiology, Medical School, University of Nantes, Nantes. 2004-present Professor of Physiology, Dept. of Physiology, Medical School, University of Nantes, Nantes. 2006-present Head of the Laboratoire d’Explorations Fonctionnelles, Hôtel-Dieu, University Hospital, Nantes, France. 2006-Present Coordinator of the Reference Centre for Neuromuscular Diseases Nantes-Angers, University Hospital, Nantes. 2016-present Director of the Biology and Health Doctoral School of University of Nantes-Angers-Le Mans

Jean-Christophe Antoine

Luisa Politano

Academic Affiliation : Department of Experimental Medicine, Section of Biology, School of Medicine, University of Campania, Naples, Italy. Present position: Associate Professor of Medical Genetics at the School of Medicine, University of Campania, Naples, Italy. Medical Doctor; Specialist in Cardiology and in medical Genetics. Field of interest: Muscular Dystrophies, myopathies and primary cardiomyopathies. Member of several scientific societies (AIM;MSM;WMS;SIGU;ESHG;ASHG) Managing Editor of Acta Myologica Referee for numerous scientific journals. Author of hundreds of papers on the field of interest.

Gabriele Siciliano

Isabel Illa

Elena Pegoraro

Teresinha Evangelista – EURO-NMD Coordinator

Dr Teresinha Evangelista has over 20 years’ experience working as a Neurologist and later as a Consultant at the Neurosciences Department of the Hospital de Santa Maria in Lisbon. These roles have been completed in conjunction with research work as a member of the Neuromuscular Research Unit at the Institute of Molecular Medicine as well as has ab Invited Lecturer at the Faculty of Medicine at Lisbon University in addition to a range of other teaching and advisory posts. After working in Paris, at the Unit 153 of INSERM (“Développement, Pathologie, Régénération du Système Neuromusculaire”) under the direction of Professor Michel Fardeau and having finish a post-graduation in Neuropathology has set a fully equipped Neuromuscular Laboratory at the Hospital de Santa Maria in Lisbon. The establishment of this laboratory has stimulated the activity within the field of Clinical Neuromuscular research at other facilities in Portugal. The laboratory became a Reference Laboratory for the South of Portugal. Dr Teresinha Evangelista played an important role in the development of a diagnostic network for Neuromuscular Diseases during the years working in Portugal and was appointed as President of the Portuguese Society for The Study of Neuromuscular Diseases in 2009 in recognition of status as a leading reference for Neuromuscular Diseases in Portugal. It was also appointed as a member of the “Centro Nacional Coordenador do Diagnóstico e Tratamento de Doenças Lisosomais (CNCDTDL)” – (National Centre for the Coordination on Diagnosis & Treatment of Lysosomal Disorders).

Maria Judit Molnar

Maria Judit Molnar MD, PhD, Professor of Neurology, Psychiatry, Clinical Genetics, and Clinico-pharmacology, Doctor of the Hungarian Academy of Sciences is the director of Semmelweis University’s Institute of Genomic Medicine and Rare Disorders, among others president of the Hungarian Medical College of Clinical Genetics, past president of the Hungarian Society of Clinical Neurogenetics, secretary of the Hungarian Society of Personalized Medicine, board member of the Neurogenetic and Neuromuscular Committee of the European Academy of Neurology. She was the vice-rector for Scientific Affairs at Semmelweis University (Budapest, Hungary) between 2012 and 2015, where she was also responsible for International Affairs. She has been adjunct professor at the Montreal Neurological Institute, McGill University, since 1999. Dr. Molnar is the Leader of a Challenge Group of the International Consortia of Person alized Medicine initiated by the European Commission. She is the member of the steering committee of the Association of Academic Health Centers International.

Semmelweis University

Maastricht University Medical Centre+

Board Members

The Board of the ERN was established in accordance with the procedure stipulated by the Commission Delegated Decision. It includes one representative from each healthcare provider (full member) of EURO-NMD and one patient representative elected by the …

Educational Resources

EURO-NMD/TREAT-NMD Translational Research “Summer” School 06-10 December 2021 – Leiden, Netherlands (Please note we were unable to deliver our 2020 Summer School due to the COIVD19 crisis) Our summer school has been developed for researchers and clinic …

Patient Engagement

In the field of neuromuscular diseases, highly active patient organizations have historically been key in the generation of disease-specific training and information material for healthcare professionals as well as patients, and in the development of r …

Guidelines

Our network is currently in the process of identifying and subsquently targeting a number of areas where the development and implementation of standarised protocols and guidelines would most benefit the neuromuscular community. In addition to developin …

Patient Advisory Board

The Patient Advisory Board (PAB) comprises of the European Patient Advocacy Group (ePAG) which is made up of 7 patient organisations elected through a process put in place by EURORDIS for patient organisations in general, as well as invited umbrella pa …

Executive Committee

The Executive Committee is responsible for the overall policy and strategic direction of the network whilst overseeing activities and progress. The committee also works closely with the Board of Heatlhcare Providers to ensure any decisions made are imp …

Contact us

Please note: We can’t respond to individual patient cases from this form. Do not share any patient information through this email system. We will only use the information you send to us via this form to deal with your particular question. We will not a …

Francesco Muntoni

Kristl Claeys

Kristl Claeys, MD, PhD, is a neurologist specialised in neuromuscular disorders working at the University Hospitals Leuven, Belgium. In Leuven, she is affiliated with the largest Neuromuscular Reference Centre in Belgium, together with her colleague and neuromuscular neurologist Philip Van Damme. Kristl Claeys is appointed as associate Professor at the University of Leuven (KU Leuven).

Carmen Paradas

Cornelia Kornblum

David Adams

David Adams is Head of the French National Reference Centre for Familial Amyloidotic Polyneuropathy (FAP), a position held since 2005, and has been the Coordinator of the French Network for FAP (CORNAMYL) since 2010 and built the European Network for ATTR amyloidosis (ATTReuNET) in 2015. He was made a Professor of Neurology at the Université Paris Sud, France in 1996. In 2009, he became Head of the Department of Neurology Centre Hospitalier Universitaire Bicêtre (CHU), at Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Sud. His main areas of expertise are peripheral neuropathies, including FAP and other rare peripheral neuropathies. He has been particularly involved in the evaluation of the effects of liver transplantation on neuropathy in FAP patients in France since 1993, and the neurological risks of domino liver transplantation. He is Principal Investigator in many multicentric clinical trials for FAP. He is now involved in research programmes of early diagnosis in sporadic cases and genetic carriers. Professor Adams was an Advisory Board member for the International Symposium on FAP, and the International Symposium on Liver Transplantation in FAP since 2007. Professor Adams also served on the local organising committee for Biennal Peripheral Nerve Society in Saint-Malo (France) in July 2013. He organized the first European Congress for ATTR Amyloidosis the 2 and 3 november 2015 in Paris. He was elected in the board of Peripheral Nerve Society since 2015 and in the board of member of European Academy of Neurology Scientific Panel Neuropathies since 2015. Professor Adams has published 110 articles in national and international journals, including Annals of Neurology, Archives of Neurology, Brain, Current Opinions in Neurology, JACC, JNNP, Nature Reviews Drug Discovery, Neurology, New England Journal of Medicine, and PNAS.

Angela Kaindl

Jan De Bleecker

Jan De Bleecker is a neurologist working at the University Hospital and AZ St. Lucas Hospital in Gent, Belgium. He did his fellowship in neuromuscular diseases with Dr. Andy G. Engel at Mayo Clinic Rochester and has a longstanding main interest in the immunopathology of inflammatory myopathies, and contributed to clinical research in the field of ALS, muscular dystrophies, hereditary and inflammatory neuropathies and neurotoxicology.

Ivailo Tournev

Anneke van der Kooi

Ans van der Ploeg

Professor Ans T. van der Ploeg MD, PhD is Chair of the Center for Lysosomal and Metabolic Diseases at the Erasmus MC University. The center is a joined initiative of the departments of Pediatrics, (Child) Neurology, Internal Medicine, Clinical Genetics and Hospital Pharmacy to improve treatment, care and diagnosis of children and adults, to stimulate translational research, to provide education and to disseminate information. It serves as the national center of expertise for treatment with enzyme replacement therapy of patients with MPS I, MPS II, MPS VI and Pompe disease. The research performed by the center mainly focuses on lysosomal storage disorders and in particular Pompe disease, and includes clinical research as well as development of innovative therapies (Gene and cell based therapies). The Center is governor of the international Pompe mutation database www.pompecenter.

Laurent Magy

Current position: Professor of Neurology, University of Limoges, France Head of the National Reference Center for Rare Peripheral Neuropathies, Limoges, France Member of the Société Française de Neurologie Secretary of the Société francophone du nerf périphérique

CHU Limoges

Erasmus MC University Medical Center

Academic Medical Centre

Hospital Sant Juan de Déu Universidad de Barcelona

Expert Centre for Hereditary Neurologic and Metabolic Disorders – University Hospital Alexandrovska

University Hospital Gent

Charité – Universitätsmedizin Berlin

Hôpital Bicêtre, Hôpitaux universitaires Paris Sud AP-HP

University Hospital Bonn

Hospital Universitario Virgen del Rocío / IBiS

University Hospitals Leuven, Neuromuscular Reference Centre

Events

Due to the ongoing coronavirus situation an increasing number of events are currently being postponed or cancelled. We will keep the event information shown here as up to date as possible however, we strongly recommend that you check directly with any …

Healthcare Providers

Healthcare Provider Country:  Austria  Belgium  Bulgaria  Cyprus  Czech Republic  Denmark  Estonia  Finland  France  Germany  Hungary  Italy  Latvia  Lithuania  Luxembourg …

Newsletter

Recent newsletters Links to our most recent newsletters can be found below Newsletter June 2021Newsletter Webinar June 2021Newsletter May 2021Newsletter Avril 2021Newsletter March 2021Newsletter February 2021Newsletter January 2021Newsletter – De …

Events calendar

Due to the ongoing coronavirus situation an increasing number of events are currently being postponed or cancelled. We will keep the event information shown here as up to date as possible however, we strongly recommend that you check directly with any …

Jan Kirschner

Juan J Vilchez

Bjarne Udd

Clinical neurologist with full time neuromuscular research since 1995 Director of the Tampere Neuromuscular Center since 2014 More than 200 international publications

Antonio Federico

Azienda Ospedaliera Universitaria Senese

Stanislav Vohanka

University Hospital Brno, Neuromuscular Centre

Tampere University Hospital

Hospital UiP La Fe

Medical Center – University of Freiburg

University Hospital – CHU de Nantes

University Hospital of Saint-Etienne

University of Campania “Luigi Vanvitelli” – University Hospital “Luigi Vanvitelli”

Azienda Ospedaliero-Universitaria Pisana, U.O.C. Neurologia

Hospital de la Santa Creu i Sant Pau

Azienda Ospedaliera Padova (AOP)

Main Network Functions

The main functions of the network will be: Provision of clinical care (traditional and non-traditional) The promotion and sustainability of good practice Organisation and management  of all relevant information/data Dissemination  of validated informat …

Carlo Minetti

-1976: MD University of Genova -1976-80: Residency in Pediatrics, University of Genova, G.Gaslini Institute.

Gaslini Institute

Massimiliano Filosto

Dr Massimiliano Filosto graduated in Medicine and Surgery with honors at University of Catania in 1993. He specialized in Neurology with honors at University of Verona in 1999. In 2003, he obtained his Ph.D. in Neurosciences at University of Verona after a Postdoctoral Research Fellowship (2002-2003) at the Department of Neurology, Columbia University, New York, USA. To date, Dr. Filosto is a Neurologist at the Department of Neurological Sciences and Vision, ASST “Spedali Civili”, Brescia, Italy (Chairman Prof. A. Padovani); he’s coordinator of the Center for Neuromuscular Diseases and Neuropathies, including ALS Center and Muscle Biopsies Center. He’s Contract Professor of Neurology at University of Brescia. The main interests in the field of neurosciences are muscle, nerve and motor neuron diseases. His work focuses on metabolic myopathies, genotype/phenotype relations, epigenetic and pathological findings in mitochondrial diseases and muscle glycogenoses. Since 2000 he is member of the Italian Society of Neurology and the Italian Association of Myology; since 2005 of the Italian Association of Neuropathology; since 2007 of the World Muscle Society; since 2010 of the Italian Association for the Study of the Peripheral Nervous System. Since 2011 he is member of the TREAT-NMD Neuromuscular Network (network of excellence funded by the European Commisisone FP6). Since 2012 he is a member of Orphanet as Coordinator of the Centre of Expertise “Center for Neuromuscular Diseases and Neuropathies – Unit of Neurology – ASST Spedali Civili, Brescia”, EUGT number: EUGTIT291956, Orpha number: ORPHA291961. Since 2012 he’s member of the Board of the Italian Association of Myology (AIM). Since 2015 he is a member of the Medical/Scientific Commission of the Italian Amyotrophic Lateral Sclerosis Association (AISLA) and, since 2017, of the Italian ! Union ag ainst Muscular Dystrophies (UILDM). Since 2016 he is full Individual Member of the European Academy of Neurology and partecipates to expert panels in neuromuscular diseases, peripheral neuropathies and motor neuron diseases.

Center for Neuromuscular Diseases, Unit of Neurology, ASST “Spedali Civili”

Bela Melegh

University of Pécs

Mar Tulinius

Sahlgrenska Universitetssjukhuset

Jens Schmidt

Neuromuscular Center, University Medical Center Goettingen

Mary Reilly

Dr Mary M Reilly studied medicine at University College Dublin. After doing two years of Neurology in Dublin, she did her MD thesis on Familial Amyloid Polyneuropathy in the Institute of Neurology, Queen Square, London. She then completed her Clinical Neurological training subspecialising in peripheral nerve diseases in the National Hospital for Neurology and Neurosurgery, the Royal Free hospital and Guy’s Hospital. Since 1998, she has been a Consultant Neurologist in the National Hospital for Neurology and Neurosurgery with a clinical and research interest in peripheral nerve disorders especially inherited neuropathies.

Jochen Werner

University Clinic Essen

Maggie C. Walter

Maggie C. Walter is Associate Professor of Neurology at the Ludwig-Maximilians-University of Munich. She has trained as a neurologist at the LMU Munich, and is working at the Friedrich-Baur-Institute, the neuromuscular department of the LMU, in leading position. Furthermore, she graduated with a master degree in management of social and health institutions. Her main research interests are neuromuscular diseases, mainly muscular dystrophies, myofibrillar myopathies, inflammatory myopathies and clinical trials in neuromuscular patients. She is coordinator of the German Muscular Dystrophy Network (MD-NET), funded by the Federal Ministry of Education and Research (BMBF) since 2003, and member of TREAT-NMD, an European Network of Excellence in the 6th EU frame program for translational research in neuromuscular diseases. Since 1997, she is member of the Scientific Advisory Board of the Muscular Dystrophy Association of Germany (DGM), and ad hoc reviewer for several peer-reviewed journals. She is responsible for the German patient registries, the DMD, SMA, CMT, and IBM patient registries, and together with Volker Straub for the international FKRP registry.

Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich

Josep Gamez

Josep Gamez has worked in the Neurology Department at the Vall d’Hebron University Hospital in Barcelona since 1989, where his clinical work focuses on treatment of neuromuscular disorders (www.vhir.org, and https://www.neuromuscularbarcelona.org). He has been the Coordinator of the Hospital’s Neuromuscular Disorders Clinic and Director of the Peripheral Nervous System Laboratory at the Vall d’Hebron Research Institute since 2008.

Hospital Universitari Vall d’ Hebron

Enrico Bertini

Enrico Bertini, is a pediatric neurologist leading the Clinical, Diagnostic and Research Laboratory Unit of Neuromuscolar and Neurodegenerative Diseases, and the Laboratory of Molecolar Medicine of the Bambino Gesù Children’s Hospital, in Rome.

Bambino Gesu’ Children’s Research Hospital IRCCS

Healthcare Providers

Country:  Austria  Belgium  Bulgaria  Cyprus  Czech Republic  Denmark  Estonia  Finland  France  Germany  Hungary  Italy  Latvia  Lithuania  Luxembourg  Malta  Netherl …

IRCCS Ca’ Granda Ospedale Maggiore Policlinico

Peter Van den Bergh

University Hospital St-Luc

Network Partners

1 The Newcastle upon Tyne Hospitals NHS Foundation Trust Prof Kate Bushby University Hospital UK 2 Expert Centre for Hereditary Neurologic and Metabolic Disorders, Prof Ivailo Tournev University Hospital Bulgaria 3 Sahlgrenska University Hospital Prof …

Diseases Covered

Although rare neuromuscular diseases (NMDs) include a broad group of diseases with overall prevalence of 1/3500-1/2500 that represent a major cause of mortality and morbidity in children and adults. Their rarity and diversity pose specific challenges f …

Network Structure

The ERN has a ‘multi-tiered hub structure’ so that it can accommodate the associated and collaborative members as well as the existing research networks and the learned societies.   In essence, this means that although a limited number of health c …

About EURO-NMD

EURO-NMD is a European Reference Network for the thematic grouping of rare neuromuscular diseases (NMDs), a broad group of related disorders that represent a major cause of mortality and lifelong disability in children and adults. NMDs are caused by ac …

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ENMC Themed Workshops: “Post-Covid-19: Issues and opportunities for the neuromuscular field!” ENMC has started a new initiative of “Themed Workshops”. Due to the fact that we are facing a new period after Covid-19 and because of the urgency to learn fr …