Newsletter - March 2018

Position statement from the ERN Coordinators

  Position statement from the ERN Coordinators
Released on 28 February 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 diseases are indiscriminate in nature and do not recognise borders. Individually no one country can successfully address the specific…

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

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 the Continent’s top experts, no matter where they live.


Highlights of the 10th Euro-Latin-American Summer School of Myology

  evelam 2017

It is now a tradition within Latin American myology community, at the end of the year always takes place the Euro-Latin-American Summer School of Myology called EVELAM (Escuela de Verano Euro Latinoamericana de Miología). This year’s edition was carried out in the mountainous city of Bogotá, Colombia thanks to a remarkable local organization committee led by Colombian colleagues of the national neurological learning society, Dr. Luis Miguel Camacho, Dr. Pilar Guerrero and Dr. Alba Lucia Marentes and their collaborators. From the 30th of November to the 2rd of December, more than 180 attendees and speakers from over nine European and Latin and North American countries gathered to teach, learn and discuss about myopathies over three full-time working days.

The main aim of the meeting was to give an update of selected topics in the field and enhance the knowledge on neuromuscular diseases, within the framework of Latin American actuality. Most relevant topics of modern myology were addressed, among them it can recall: (1) new genres to categories new subgroups of diseases, (2) technical issues, such as diagnostic and therapeutic approaches of the neuromuscular patient; (3) current genetic diagnostic testing, muscular imaging; (4) hereditary myopathies in children and adults; (5) mitochondrial myopathies; (6) motor neuron diseases; (7) immune mediated neuromuscular disorders; (8) metabolic myopathies and new glucogenosis; and (9) Congenital and adult Myasthenic syndromes . Patient’s associations of Spinal Muscular Atrophy (SMA) also attended and exposed their current activities to benefit their associates. The contributions that these associations have made to the Summer School were particularly valuable.

Most liked by students were the discussions between speakers of clinical cases and their relationship to theories and practices presented. Those discussions comprise a selection of actual cases that exemplify relevant issues and other ones contributed by participants, to be informed about diagnosis, management and treatment.

The course held in Spanish, Portuguese and English accounting with the support and participation of Dr. Enrico Bertini (Italy); Dr. Eduardo Tizzano, and Dr. Andrés Nascimento (Spain); Dr. Edmar Zanoteli (Brazil); Dr. Jorge A. Bevilacqua (Chile), Dr. Pilar Guerrero, Dr. Diego Chaustre (Colombia); Dr. Soledad Monges, Dr. Fabiana Lubieniecki, Dr. Alberto L. Rosa (Argentina); Dr. Frank Weber (Germany), Dr. Alejandro Tobón, Dr. Mark Bromberg (USA); Dr. Susana Quijano, Dr. Andoni Urtizberea and Dr. Edoardo Malfatti (France).The venue accounted also with the support of the Colombian Association of Neurology, AFM-Téléthon France, and growing funding from the industry involved in the neuromuscular area, namely Genzyme-Sanofi.

Since the first Summer School held in Santiago, Chile, in 2008, there has been a steadily growing interest in the EVELAM. This year 180 students attended the meeting from Argentina, Brazil, Chile, Colombia, Ecuador, Peru, Paraguay, Mexico, and Uruguay.

EVELAM one more time was an opportunity for an exchange of knowledge between Latin America and Europe, and offered an instance for continuous medical education to advance the care, diagnosis, and treatment of patients with neuromuscular diseases. The 11th EVELAM is scheduled early December 2018 in Puerto Varas, Chile.


Still time to apply for our translational Summer School

Institute of Genetic Medicine, Newcastle University  

Applications are still coming in for our Neuromuscular Translational Summer School which will tkae place 2-6 July in Newcastle, UK.

Our comprehensive course, run in conjunction with TREAT-NMD, will serve as a superb foundation for those wanting to steer their medical or research career in the direction of neuromuscular diseases whilst contacts made as a result of attending will, no doubt, prove to be invaluable.

Attendees who complete this course will not only be furnished with knowledge of the many different aspects that are involved in translational research but will also gain a deeper understanding and compassion for those involved in the whole trial process from researcher to patient.


Updated DMD research guide now available


The TREAT-NMD research overview section for Duchenne Muscular Dystrophy (DMD) contains a succinct overview of therapeutic approaches that are in clinical development for DMD written in everyday language.

These pages have now been updated by Annemieke Aartsma-Rus to contain the latest clinical developments in the DMD field based on information presented at the Duchenne Parent Project meeting (February 2018, Rome, Italy).

Financial support to Professor Aartsma-Rus by Parent Project Onlus and Duchenne Parent Project Netherlands to attend meetings is gratefully acknowledged.


Rare diseases, orphan medicines - Getting the facts straight

On the 28 February (Rare Disease Day), the European Medicines Agency (EMA) released a questions and answers document that addresses common misunderstandings around orphan medicines and how the orphan designation is given.

The EMA plays a central role in facilitating the development and authorisation of medicines for rare diseases (including neuromuscular diseases), which are termed ‘orphan medicines’ in the medical world. The document called 'Rare diseases, orphan medicines: getting the facts straight' helps explain why orphan designation doesn't guarantee marketing authorisation and who secures the availability of an orphan medicine in the EU.


8th edition of the National Conference on Mitochondrial Diseases

  Screen Shot 2018-03-27 at 13.18.17

The 8th edition of the National Conference on Mitochondrial Diseases organized by Mitocon Onlus, will be held in Rome from 25 to 27 May.

The conference is a unique opportunity to meet with the leading experts in mitochondrial diseases, both Italian and international, and it is an opportunity for the community to see old friends and…


Recruitment opportunity for Professorial Chair/Senior Lecturer in UK

The John Walton Muscular Dystrophy Research Centre (JWMDRC) at Newcastle University and the Newcastle Hospitals NHS Foundation Trust is looking to recruit a Clinical Academic to join the centre focusing on genetic neuromuscular diseases.  This will be a Professorial Chair/Senior Lecturer position. The post holder will be expected to extend and contribute to the broad spectrum of translational research activities of the Centre, which is part of the Institute of Genetic Medicine.

The job description is about to be advertised, and in the meantime informal enquiries can be made to Professor Volker Straub.


Research & Policy Project Manager


EURORDIS is a unique, non ‐ profit alliance of 792 rare disease patient organisations from 69 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe. By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services.

Key tasks & responsibilities

The Research & Policy Project Manager (RPPM) is responsible for the support of EURORDIS’ involvement in Research Projects comprising activities related to rare disease research, diagnostics, infrastructures and technologies as well as related ethical issues. The RPPM will work closely with the Scientific Director, Therapeutic Development Director, ERN & Healthcare Director, Patient Engagement Senior Manager and other team members to develop the healthcare and research networks and infrastructure to meet the needs of the rare disease community.


Cellular Scientist in Myology

Employer: Great Ormond Street Hospital NHS Foundation Trust
Location: London
Salary: £46,897 to £54,983 per annum inclusive

Dubowitz Neuromuscular Centre wishes to appoint a Cellular Scientist in Myology who can take on the shared responsibility for operational delivery of the Dubowitz Neuromuscular Centre Muscle Pathology Service, including the Highly Specialised Service/National Specialist…


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