7th ERN-RND Spring School ‘Next Generation Sequencing Diagnostics for Rare Neurological Diseases’, 05. – 07. May 2026
Spring School 2026
The registration for our Spring School “Next Generation Sequencing Diagnostics for Rare Neurological Diseases” taking place on May 5–7 is now open. The event will be held online, and participation is free of charge.
During this Spring School, participants will gain insights into:
- NGS Technologies
- Quality Assurance, Recommendations, and Case Presentations
- Clinical Applications of NGS
Toregister click here. To see theprogramme click here.
Programme
| 05 May 2026 | NGS Technologies |
| Chair | Holm Graessner, Tübingen (Germany) |
| Time (CET) | Topic | Speaker |
|---|---|---|
| 9:00-9:45 | RNAseq in RD | Diana Baralle Human Development and Health, Faculty of Medicine, University of Southampton, United Kingdom |
| 9:45-10:30 | Episignatures in Diagnostics of Rare Diseases | Camille Charbonnier Cancer and Brain Genomics, Inserm UMR1245, Université de Rouen Normandie, France |
| 10:30-11:15 | Bioinformatic Tools for Diagnosing Rare Diseases | Christian Gilissen Genome bioinformatics, Radboud University Medical Center, Nijmegen, The Netherlands |
| 11:15-11:30 | Coffee Break | |
| 11:30-12:15 | Non-coding Variants in Rare Diseases | Nicola Whiffin Big Data Institute, Wellcome Centre for Human Genetics, Oxford, United Kingdom |
| 12:15-13:00 | snRNA Genes in Neurodevelopmental Disorders | Christel Depienne Institute for Human Genetics, University Hospital Essen, Germany |
| 06 May 2026 | External Quality Assessment Scheme, Recommendations and Cases |
| Chair | — |
| Time (CET) | Topic | Speaker |
|---|---|---|
| 9:00-9:45 | Quality Insurance | Katja Lohmann Ales Maver Radboudumc, Nijmegen, The Netherlands |
| 9:45-10:30 | External Quality Assessment Scheme | Katja Lohmann Institute of Neurogenetics, University of Lübeck, Germany Ales Maver Centre for Mendelian Genomics, University Medical Centre Ljubljana, Slovenia |
| 10:30-11:00 | Recommendations | Katja Lohmann Ales Maver |
| 11:00-11:15 | Coffee Break | |
| 11:15-13:00 | Case presentations | Panel |
| 07 May 2026 | Application of NGS to a Specific Disease Group |
| Chair | Elisabetta Indelicato (Innsbruck, Austria) |
| Time (CET) | Topic | Speaker |
|---|---|---|
| 9:00-9:45 | NGS for Ataxia and HSP | Erik-Jan Kamsteeg Radboudumc, Nijmegen, The Netherlands |
| 9:45-10:30 | NGS for Atypical Parkinsonian Syndromes | Giorgos Koutsis 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Greece |
| 10:30-11:15 | NGS for Frontotemporal Dementia | Laura Donker Kaat Erasmus Medical Center Rotterdam, The Netherlands |
| 11:15–11:30 | Coffee Break | |
| 11:30-12:15 | NGS for HD and Chorea | Larissa Arning-Bünder Ruhr University Bochum, Germany |
| 12:55-13:00 | NGS for Dystonia, Paroxysmal Disorders and NBIA | Michael Zech Institute of Human Genetics, University Hospital Rechts der Isar, Technical University of Munich, Germany |
| 13:00-13:45 | NGS for Leukoencephalopathies ——————- Closing Remarks | Fanny Mochel Paris Brain Institute, Sorbonne Université, AP-HP, Paris, France |
To downlaod the programme click here.
For further information please contact Sophie Ripp.
Psat Winter/Spring Schools:
- Winter School ‘Diagnostics of Rare Movement Disorders’, 31.1.2018 – 02.02.2018, Budapest, Hungary
- Winter School ‘Hereditary White Matter Diseases: Clinic, Genetic, Therapy’,
17-19. January 2019, Budapest, Hungary - Winter School ‘Neurorehabilitation’, 20-22 January 2022, Tübingen, Germany, online; in collaboration with the European Pediatric Neurological Society (EPNS).
- Winter School ‘Neuroimaging’, 23. – 25. March 2023, Tübingen, Germany, online.
- Spring School ‘Deep Brain Stimulation in Dystonia’, 17. – 19. April 2024, online.
- Winter School ‘Challenges of Treating Rare Neurological Diseases’, March 12-14, 2025, online.