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 subject area.
The recordings and slides will be available on the EURO-NMD website for viewers to refer to or in case someone who has expressed an interest is unable to make the live webinar.
As part of a close working relationship between EURO-NMD and RD-Connect three informative webinars were organised for those researchers involved in ERNs. Recording of these three webinars can now be found below.
We are also collaborating with the European Reference Network for Rare Neurological diseases (ERN-RND) and the European Academy of Neurology (EAN). You can also view webinars from ERN-RND listed below (and on their website by clicking here) and we will include more information on how to register for these webinars in due course.
If you have a particular subject you would like to present about please contact Antonio Atalaia who will find a suitable date and time.
We currently have some flexible time slots available for any relevant webinars.
Next webinar will be held on 22 October 2020
Personalized care for patients with ALS: ALS Home monitoring & Coaching
organised by EURO-NMD
This webinar will be delivered by Dr Anita Beelen who is a senior researcher in Neuromuscular diseases in the University Medical Center Utrecht in the Netherlands.
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).
This webinar will take place at 14:00 (Paris time)
Register now to secure your place on this webinar.
Future webinars
3 November 2020 – Non-invasive stimulation for ataxias – organised by ERN-RND
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 neurologist from the Radboud University Medical Centre in Nijmegen, the Netherlands. He is an expert on ataxia and has special interest in rare and genetic movement disorders.
Register here for this webinar10 November 2020 – Rehabilitation in ataxia: current evidence and practice – organised by ERN-RND
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 of Neurology, Head of Clinical Neurogenetics, Centre of Neurology, University of Tübingen, Germany and Clinical coordinator of the European Reference Network on Rare Neurological Diseases (ERN-RND). His research group focuses on translational research in neurogenetic diseases such as cerebellar ataxia and hereditary spastic paralysis (HSP).
Register here for this webinar19 November 2020 – Congenital Myasthenia Syndromes – an update – organised by EURO-NMD
This webinar will be 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 European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).
This webinar will take place at 14:00 (Paris time)
Further information about how to attend this webinar will appear here in due course.
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 Neurologist at the Department of Neurosciences and Neurorehabilitation, Ospedale Pediatrico Bambino Gesù, Rome, Italy. Her special research focus is on Neuromuscular and Neurogenetic Disorders in childhood.
Susanna Summa is a researcher at the Department of Neurosciences and Neurorehabilitation, Ospedale Pediatrico Bambino Gesù, Rome, Italy. Her main research activities are focused on neuroscience, natural user interface and neurorehabilitation.
Register here for this webinar1 December 2020 – Functional movement disorders: a diagnostic guide – organised by ERN-RND
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 neurologist and senior lecturer at the Movement Disorders and Neuromodulation Unit at the Charité, University Medicine in Berlin. His clinical and research focus is on: movement and neurodegenerative disorders.
Register here for this webinar10 December 2020 – Myasthenia Gravis – organised by EURO-NMD
This webinar will be delivered by Prof Isabel Leite, University of Oxford, UK.
Thursday 10 December 16:00 (Paris Time)
Recording of this webinar will be made available afterwards.
This is part of a 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).
Past webinars
Below are details of the past webinars we have organised. Where possible we have included a recording of the webinar in this section.
This webinar will be delivered by Dr Anita Beelen who is a senior researcher in Neuromuscular diseases in the University Medical Center Utrecht in the Netherlands.
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).
This webinar will take place at 14:00 (Paris time)
Register now to secure your place on this webinar.
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 Principal Investigator Enroll-HD, Past Chairman of the Executive Committee of EHDN, Director of the HD-Center Ulm and Full Professor of Neurology at the University Ulm, Germany.
13 October 2020 – Diagnostic algorithm for childhood onset chorea – organised by ERN-RND
This webinar is 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 will be deliver by Juan Dario Ortigoza-Escobar is a pediatric neurologist from the Hospital Sant Joan de Déu in Barcelona, Spain. He is an expert in movement disorders (dystonia, Parkinsonisms, choreas, tremors, myoclonias, tics/Tourette syndrome, deep brain stimulation).
13 Oct 2020 15:00 (Paris time)
Register here for this webinar
6 October 2020 – Treatment of spasticity in HSP and leukodystrophies – organised by ERN-RND
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 Professor for Rehabilitation Medicine at the Amsterdam Research Institute for Movement Sciences. Laura Bonouvrié is specialist in Rehabilitation medicine at the Amsterdam University Medical Center- Research Institute for Neuroscience – Cellular and Molecular Mechanisms.
1 October 2020 – Hereditary Spastic Paraplegia – clinical disease course – organised by ERN-RND
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 University Tübingen Germany and expert on Hereditary Spastic Paraplegia. She is leading the research group „Genomics of rare movement disorders“ at the Hertie Institute for Clinical Brain Research . She is also the coordinator of the network TreatHSP.
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 Clinical Research Fellow at NIHR and PhD Candidate at King’s College London and Consultant Occupational Therapist at Guy’s and St Thomas’ NHS Foundation Trust.
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 Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).
Annemeike briefly introduces the basic concepts of different genetic therapies (gene addition, genome editing, splicing modulation and transcript readthrough). Duchenne is used as a paradigm since all these approaches are in development. However, the webinar also takes into account challenges and considerations for applying these approaches broader to other NMDs.
15 September 2020 – A challenge in neurogenetics: Huntington disease in kids – organised by ERN-RND
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 has been studying and treating patients with Huntington’s disease and juvenile onset Huntington’s disease over the last 30 years. Ferdinando Squitieri is Head of the Huntington and Rare Diseases Unit at Fondazione IRCCS Casa Sollievo Sofferenza Research Hospital in San Giovanni Rotondo and Head of the Neurology Department at CSS-Mendel Institute in Rome. His main line of research focuses on clinical, genetic and imaging changes in Huntington’s disease.
10 September 2020 – How to assess and manage spastic gait in rare diseases? – organised by ERN-RND
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 at the Department of Neurology at the General University Hospital in Prague, Czech Republic. He has special expertise in neurorehabilitation, musculoskeletal disorders and gait analysis.
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 of Communication Disorders at Comenius University, Bratislava. Special expertise and research focus: aphasia, progressive language disorders, neurogenic communication disorders. Robert Rusina, Head of the Department of Neurology, Charles University Thomayer Hospital, Prague. Special expertise and research focus: progressive aphasia, frontotemporal dementia, prion disorders, cognitive neurology.
20 August 2020 – Painful neuropathies: from diagnosis to treatment – organised by EURO-NMD
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 the Dutch Neuromuscular Center.
Janneke studied medicine at the VU University Amsterdam, after which she followed her training as a neurologist at Maastricht UMC +. Since the start of her education in 2010, she has been engaged in research into painful neuropathies in close collaboration with the University of Yale (Prof. SG Waxman) and the Carlo Besta Institute in Milan (Prof. G. Lauria). In 2014, she defended her dissertation on the role of sodium channel mutations in patients with small fiber neuropathy. An article from her thesis was awarded the Princess Beatrix Spierfonds annual prize for the best neuromuscular article published in 2012. Since January 2016, Janneke works on neuromuscular disorders in Maastricht UMC+. In addition to research in the field of painful neuropathies, she is involved in myotonic dystrophy. Medical advisor for the diagnosis group smallfiber neuropathy of the Dutch patients organization for neuromuscular disorders and board member of the Dutch Neuromuscular Center.
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).
This webinar took place 20th August 2020
23 July 2020 – Introduction to MR Neurography – organised by EURO-NMD
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-EuroNMD) and the European Academy of Neurology (EAN).
This webinar took place 23rd July 2020.
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 Disorders Department of Rehabilitation Nijmegen, The Netherlands.
Respiratory physiotherapy in Parkinson’s plus syndromes was delivered Martin Srp, Charles University and General University Hospital, Prague, Czech Republic.
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).
This webinar took place 14th July 2020.
25 June 2020 – Pediatric Muscle Imaging – organised by EURO-NMD
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 the European Academy of Neurology (EAN).
26 May 2020 – Management of Cardiac Involvement in Genetic Myopathies – organised by EURO-NMD
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 at the University of Paris Descartes. He specialises in the clinical management of patients with cardiomyopathies with a specific expertise in neuromuscular diseases. Key areas of clinical and fundamental research for Pr. Wahbi are the prevention of heart failure and sudden death, the study of molecular mechanisms underlying cardiomyopathy and development of innovative therapies in patients with neuromuscular conditions.
This webinar gives a global overview of cardiovascular involvement in neuromuscular conditions, its impact on patient prognosis and the potential preventives approaches that can be implemented. A number of specific neuromuscular cardiomyopathies will be presented in detail, including those observed in patients with Duchenne muscular dystrophy, myotonic dystrophy type 1 and laminopathies .
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).
This webinar took place on Tuesday 26th May 2020
12 May 2020 – Paroxysmal dyskinesias: update on clinical and genetic aspects – organised by ERN-RND
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 Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).
23 April 2020 – Exercise in neuromuscular disease – a moving topic – organised by EURO-NMD
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-EuroNMD) and the European Academy of Neurology (EAN).
To compliment this webinar Nicole has developed this PDF of further information about exercising with a neuromuscular disease.
21 April 2020 – Hypomyelination (paediatric focus) – organised by ERN-RND
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.
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).
14 April 2020 – Recognizing atypical parkinsonism – organised by ERN-RND
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 (ERN-EuroNMD) and the European Academy of Neurology (EAN).
6 April 2020 – Huntington’s disease & COVID-19: a difficult combination – organised by ERN-RND
This webinar was presented by EHA & ERN-RND on the 6th April 2020.
17 March 2020 – X-linked adrenoleukodystrophy (adult/paediatric focus) – organised by ERN-RND
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 Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).
3 March 2020 – Ultrasound diagnostics for cervical dystonia – organised by ERN-RND
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 European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).
20 February 2020 – Mitochondrial Donation – organised by EURO-NMD
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 Academy of Neurology (EAN).
18 February 2020 – Mitochondrial disorder with chorea – organised by ERN-RND
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-EuroNMD) and the European Academy of Neurology (EAN).
4 February 2020 – Clinical evaluation of Dystonia – organised by ERN-RND
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, Parkinson’s disease and atypical parkinsonian syndromes.
Recording of this webinar will be made available shortly.
This is part of a 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).
28 January 2020 – Introduction into Leukodystrophies – organised by ERN-RND
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 hypomyelinating leukodystrophies.
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).
21 January 2020 – Immune – mediated choreas – organised by ERN-RND
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 Academy of Neurology (EAN).
14 January 2020 – The inherited ataxias – organised by ERN-RND
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 diseases and neurorehabilitation with particular focus on ataxia.
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).
17 December 2019 – Non-progressive congenital ataxia – organised by ERN-RND
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 the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).
5 December 2019 – Classification of inflammatory myopathies – organised by EURO-NMD
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-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).
3 December 2019 – Neuroacanthocytosis syndromes – organised by ERN-RND
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 the European Academy of Neurology (EAN).
21 November 2019 – Myotonic Dystrophies – organised by EURO-NMD
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 presentation and allowing us to include it here on our website.
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).
5 November 2019 – Clinical Features of Ataxia – organised by ERN-RND
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 series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).
This webinar was organised by ERN-RND.
24 October 2019 – Diagnostic imaging in NMD: the basics – organised by EURO-NMD
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 Academy of Neurology (EAN).
23 May 2019 – CPMS Webinar: FAQ & A – organised by EURO-NMD
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 Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).
18 April 2019 – Amyloid Neuropathies: update in 2019 – organised by EURO-NMD
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 European Academy of Neurology (EAN).
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 (GMT).
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).
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 as medical records, clinical and phenotypic data, test results, sequencing data and biosample details are made FAIR at the source.
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 you find rare disease biobanks and browse their sample collections, with detailed information about each individual sample.
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 identify disease-causing mutations and help diagnose your rare disease patients. The system also allows you to compare your data with data submitted by other members of the RD-Connect community, and further afield, to find confirmatory cases for your candidate variants.
Logistical information
EURO-NMD use Zoom Webinar software to ensure the webinars run smoothly for the one hour duration. Some of the features that Zoom offer are:
- Up to 100 live participants
- Mute/Unmute options
- Screen sharing
- Webinar recording
When performing webinars Chloe Blewitt will be present to assist if there are any technical issues. There will also be the offer of a 5-10 minute session before the webinar so the presenter can learn the different controls and options and so they have adequate time to set up.
