11 March 2024

General information

We’re happy to announce our upcoming webinar series on Gene Therapy co-organized by EURO-NMD, ERN-RND, for rare neurological diseases, ERN EpiCARE, for rare and complex epilepsies  and European Academy of Neurology (EAN), where we’ll delve into the latest advancements and breakthroughs in this interesting field.

Join us as we will explore:

  1. Cutting-edge research in gene therapy: Discover the latest developments and innovations driving gene therapy forward.
  2. Clinical applications and successes: Learn about successful gene therapy treatments and their impact on patients’ lives.
  3. Ethical considerations and future prospects: Delve into the ethical implications of gene therapy and explore future directions for research and application.
  4. Expert discussions and Q&A sessions: Engage with leading experts in the field, participate in insightful discussions, and get your questions answered.

Webinars programme


Tuesday 2 April 2024, 17:00 – 18:00 CEST

Episode 1

General overview of gene therapy developments for clinicians by Dr. Francina Munell Casadesus (Hospital Universitari Vall D’Hebron, Barcelona, Spain)

Dr. Francina Munell is a Pediatric Neurologist working at Vall d’Hebrón University Hospital, Barcelona (Spain), and the coordinator of the Pediatric Neuromuscular Unit. Her main interest is the study of the early onset neuromuscular disorders. She participates in clinical trials using gene therapy in SMA and Duchenne Muscular Dystrophy, in research projects aiming to develop a therapeutic strategy for LAMA2-MD and in the elaboration of a guideline for gene therapy in neuromuscular disorders in Spain.  

Gene therapy in clinical practice – when and how by Prof. Laurent Servais (University of Oxford, United Kingdom)

Laurent Servais is Professor of Paediatric Neuromuscular Diseases at the University of Oxford in the UK, and invited Professor at the University of Liège in Belgium. He graduated in medicine and pediatrics from the University of Louvain (in Louvain-la-Neuve and Brussels in Belgium) then trained as a child neurologist in the Robert Debré Hospital in Paris, France, and as a myologist at the Institute of Myology, Pitié-Salpêtrière University Hospital, Paris.  

Professor Servais’ main research interests cover innovative outcome measures and clinical trials design and newborn screening (NBS). He has been involved as Principal Investigator in several clinical trials in spinal muscular atrophy (SMA), Angelman Syndrome X-linked myotubular myopathy, and Duchenne muscular dystrophy (DMD), and in leading the NBS program for SMA NBS in Belgium and in the UK. He is the coordinating investigator of two large natural history studies in Angelman in the UK and in Belgium that aims to identify and validates innovative outcome measures and biomarkers. 

Click here to watch the replay!  (hosted by ERN EURO-NMD)


Wednesday 10 April 2024, 16:00 – 17:00 CEST

Episode 2

Basic technologies and challenges in translation by Prof. Dr. Hildegard Büning (Hannover Medical School, Germany)

Hildegard Büning is Professor of Infection Biology of the Gene Transfer and Deputy Director of the Institute of Experimental Hematology at Hannover Medical School (Germany). She served as President of the European Society of Gene and Cell Therapy (www.ESGCT.eu), is the Scientific Secretary of the German Society for Gene Therapy (www.dg-gt.de) and a Member of the Board of the American Society of Gene & Cell Therapy (https://asgct.org/). She studied Biology and obtained her PhD (Dr. rer. nat.) at the LMU Munich. Since then, she is active in the field of adeno-associated virus (AAV) vectors with a particular focus on improving the efficacy and safety of these biological nanoparticles.

Click here to watch the replay! (hosted by ERN EURO-NMD)


Thursday 18 April 2024, 16:00 – 17:00 CEST

Episode 3

Lessons learned across different disorders and challenges in the development of gene therapies by Dr. Kathrin Meyer (Nationwide Children’s Hospital, Columbus, Ohio, USA)

Dr. Meyer studied molecular and cellular biology at the University of Berne, Switzerland followed by a post-doctoral fellowship at Nationwide Children’s Hospital, Columbus Ohio, USA developing different therapeutic approaches for the neuromuscular disease Spinal Muscular Atrophy including the now approved AAV gene therapy Zolgensma. In 2017, she established her independent laboratory at the Center for Gene Therapy at Nationwide Children’s Hospital and became Assistant Professor at The Ohio State University, Columbus, Ohio. Her research focused on the development of novel in vitro models to study disease mechanisms and generation of novel therapeutics for neurological disorders with emphasis on neurodevelopmental and autism spectrum disorders. She also optimized cerebrospinal fluid delivery methods for delivery of therapeutics including AAVs to the nervous system and translated several additional AAV gene therapies to clinic. She served and continues to serve on scientific advisory boards for patient foundations and is Chief Scientific Advisor to Alcyone Therapeutics.

The regulatory approach to evaluating and approving gene therapies for neurological and other rare disorders by Marta Kollb-Sielecka (European Medicines Agency)

Marta Kollb-Sielecka joined the European Medicines Agency in 2013. She is a Product Lead in the Therapies for neurological and psychiatric disorders office as well as a member of Advanced Therapies Medicinal Products matrix team.  She holds a Master’s degree in Pharmacy from Warsaw Medical University. Prior to joining the Agency, she held a number of positions in pharmaceutical industry.

Click here to watch the replay! (hosted by ERN EURO-NMD)



Tuesday 14 May 2024, 16:00 – 17:00 CEST

Episode 4

N-of-1 to many personalized therapies by Terry Pirovolakis (Founder of CureSPG50 and Elpida Therapeutics)

Terry Pirovolakis, co-founder of CureSPG50, confronted his child’s SPG50 diagnosis in 2019. Through successful fundraising, he led ground-breaking research, treating three children within three years. Pirovolakis established Elpida Therapeutics, a corporation with a non-profit approach, focusing on gene therapies for ultra-rare conditions. Collaborating with industry leaders, Elpida targets SPG50, CMT4J, and plans to address three more diseases in 2024, utilizing profits to sustain programs. Pirovolakis extends his impact by supporting foundations, providing Gene Therapy 101 classes, and engaging in collaborations, all centered on the goal of saving as many children as possible. 

Click here to watch the replay! (hosted by ERN EURO-NMD)


Thursday 23 May 2024, 16:00 – 17:00 CEST

Episode 5

Genetic therapies and therapy developments for epileptic disorders by Prof. Dimitri Kullmann (University College London)

Dimitri Kullmann is a consultant neurologist at the National Hospital for Neurology and Neurosurgery, and professor of neurology at the UCL Queen Square Institute of Neurology. He trained in Oxford and London, and is a Fellow of the Academy of Medical Sciences and of the Royal Society. He specialises in neurocritical care and myasthenia gravis. His research interests centre on mechanisms underlying normal and abnormal circuit function in the brain, inherited and acquired disorders of ion channels (channelopathies) and gene therapy for epilepsy.

Click here to watch the replay! (hosted by ERN EpiCARE)


Wednesday 29 May 2024, 16:00 – 17:00 CEST

Episode 6

Genetic therapies and therapy developments for muscular dystrophies (DMD, LGMD) by Prof. Annemieke Aartsma-Rus (Leiden University Medical Center, the Netherlands)

Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center (LUMC, the Netherlands). She played an important role in the development of antisense mediated exon skipping for Duchenne muscular dystrophy during her PhD research (2000-2004) at the LUMC. Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy and rare brain diseases. This involves work in cell and animal models to improve efficiency of exon skipping, studies in muscle pathology, the identification of biomarkers, studying the basics of pre-mRNA splicing and transcript processing and the generation and detailed analysis of mouse models.

Click here to watch the replay! (hosted by ERN EURO-NMD)




Thursday 6 June 2024, 16:00 – 17:00 CEST

Episode 7

Health technology assessment (HTA) of genetic therapies by Prof. Oriana Ciani (SDA Bocconi School of Management)

Oriana Ciani is an Associate Professor of Practice in the Public Management and Policy, Health Economics, and HTA (Health Technology Assessment) Area at SDA Bocconi School of Management.

Her collaboration with SDA began in 2010. She coordinates the Epidemiology and Public Health module in the “Master of International Health Care Management, Economics and Politics” (MIHMEP) and teaches in numerous training courses for healthcare professionals on health economics and economic evaluation of healthcare interventions.

Her research interests focus on the use of Health Technology Assessment (HTA) in healthcare decision-making processes, methodological aspects of health technology assessments, particularly in the field of medical devices and digital technologies, evidence synthesis to inform policy choices. Oriana earned her PhD from the University of Exeter Medical School (UK) with a thesis on the validation of surrogate outcomes, which remains one of her main areas of interest.

She has participated in numerous national and international research projects, involving various partners, such as MedTecHTA (FP7 no. 305694), Mapping NCD (FP7 no. 602536), and COMED (H2020 no.779306). Since 2023, she has been the coordinator of the three-year HORIZON Europe project HI-PRIX (no. 101095593), focusing on innovative pricing and payment schemes for healthcare technologies.

In 2020, Oriana was a Fulbright Research Scholar at the Yale School of Medicine and the Yale School of Public Health. She serves as an Associate Editor of Value in Health and is the author of numerous internationally recognized publications. Her study published in the International Journal of Health Technology Assessment (2015) on HTA systems for medical devices received the Egon Jonsson Award in 2016. For her research activities, she has received other awards, including the Bocconi Research Award (2023), the Exeter Impact Award (2013), the Best Student Podium Presentation Award at the ISPOR Conference in Dublin (2013), and the young researchers award from AIES (2010).

Oriana holds a bachelor’s and master’s degree in Biomedical Engineering from the Polytechnic University of Milan and a Master’s in Healthcare Management from SDA Bocconi.

Click here to watch the replay! (hosted by ERN EpiCare)


Thursday 13 June 2024, 16:00 – 17:00 CEST

Episode 8

Genetic therapies and therapy developments for ALS by Dr. Juan Francisco Vázquez Costa (University of Valencia, Spain)

Dr Vázquez Costa is MD in Neurology (2012) and PhD in motor neuron diseases (2019). Since 2013 he is devoted to the care of motor neuron disease patients and in 2020 he was granted a Juan Rodés excellence contract from the Carlos III Health Institute, to coordinate the motor neuron disease unit at Hospital la Fe. He also co-chairs the ALS Genetic Spanish consortium (ALSGESCO) and is member of the Spanish research network for rare diseases (CIBERER). This unit is a referral Spanish and European centre for the treatment and research in ALS and SMA, and participates in the European Network to Cure ALS (ENCALS) and the TRICALS consortium. Dr Vázquez Costa has participated in more than 20 research projects and in more than 30 clinical trials in both ALS and SMA, and has published more than 80 articles in indexed journals in neuromuscular diseases. He has carried out research stays at the Psychiatry department of the Universitätsklinikum in Freiburg (Germany) and at the Martinos Center for Biomedical Imaging in Boston (USA) and has collaborated and collaborates with researchers from numerous research institutes and universities. Since November 2019 he is an associate professor of neurology at the University of Valencia. 

Click here to watch the replay! (hosted by ERN EURO-NMD)


Wednesday 19 June 2024, 16:00 – 17:00 CEST

Episode 9

Safety issues in gene therapies and how to address them by Prof. Francesco Muntoni (University College London)

Professor Francesco Muntoni is a Paediatric Neurologist with an interest in clinical, pathological and molecular aspects of neuromuscular disorders.

He is the director of the Dubowitz Neuromuscular Centre, a leading clinical and research institution for children affected by neuromuscular disorders. At the centre more than 1,600 children affected by neuromuscular diseases are assessed every year by a team of experts from different disciplines.

Click here to register! (hosted by ERN EpiCare)


Thursday 27 June 2024, 16:00 – 17:00 CEST

Episode 10

Genetic therapies and therapy developments for SMA by Prof. Jan Kirschner, (University of Freiburg, Germany)

Jan Kirschner (Professor of Pediatric Neurology) has been joint coordinator of the German network for neuromuscular disorders MD-NET (www.md-net.org) since 2008. He has been involved in planning and conducting several multicentre clinical trials. He was responsible for the coordination of a large multi-centre, placebo-controlled MD-NET trial in Duchenne muscular dystrophy. Jan has established the Care and Trial Site Registry (CTSR) containing feasibility information about neuromuscular centres worldwide. Jan has coordinated the CARE-NMD project funded by the European Union (2010-2013)  with the aim to improve standard of care for Duchenne muscular dystrophy throughout Europe (www.care-nmd.eu). He has a long-standing interest in the diagnosis and treatment of myopathies, muscular dystrophies, and motoneuron diseases in children and adolescence. He is an experienced clinical researcher in this area. Jan and his team have established the SMArtCARE network to collect real-world data for patients with SMA in German speaking countries (www.smartcare.de).

Click here to register!  (hosted by ERN EURO-NMD)




Tuesday 2 July 2024, 15:00-16:00 CEST

Episode 11

State of the art of clinical stage gene therapies for leukodystrophies by Dr. Caroline Sevin (Kremlin Bicêtre Hospital, France)

Dr. Caroline Sevin is a pediatric neurologist at Kremlin Bicêtre hospital. She leads the French reference center for leukodystrophies in children at Kremlin Bicêtre hospital, France. ‪She has long-standing interests in neurodegenerative metabolic diseases, including lysosomal, peroxysomal and mitochondrial diseases. She has a strong background in leukodystrophies, particularly Adrenoleukodystrophy, Metachromatic leukodystrophy and Krabbe disease. She’s part of international consortia for MLD and ALD. CS is PI or co-PI of several clinical trials, mostly in ALD and MLD, using innovative therapies (gene therapy, intrathecal enzyme replacement therapy, small molecules). Her research activity focuses on developing in vivo/ex vivo gene therapy and small molecules approaches for leukodystrophies.

Click here to register! (hosted by ERN-RND)


Tuesday 23 July 2024, 15:00-16:00 CEST

Episode 12

Genetic therapies and therapy developments for rare movement disorders (HD, SCA) by Dr. Willeke van Roon-Mom

Willeke van Roon-Mom is a full professor of Human Genetics, in particular of translational studies of neurodegenerative disorders. She studied Medical Biology at the Rijksuniversiteit in Groningen, and did her PhD in Auckland New Zealand studying Huntingtons disease. After a Post Doc in New Zealand, she returned to the Netherlands to work at the Human Genetics department at the Leiden University Medical Center where she started her own research group. Her work is highly translational in nature, working in close collaboration with clinical departments and industry. Unique patient-driven fund raising initiatives contribute not only financial input, but also patient perspective to research programs in her group. The main topic of her research is autosomal dominant neurodegenerative diseases that have aberrant protein aggregation as a pathological hallmark. She studies molecular disease mechanisms, identifies biomarkers and then uses this knowledge to develop novel therapies with a focus on RNA targeting antisense oligonucleotide therapies. She is the co-founder and co-lead of the Dutch Center for RNA Therapeutics that aims to develop RNA targeting therapies for patients with ultra-rare mutations.

Click here to register! (hosted by ERN-RND)

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