Genetic research in the field of epilepsies is confronted with an extremely large number of new genes, for which the clinical spectrum and/or natural history is often barely known; usually, the number of patients published is limited to a handful, their recruitment may be strongly biased towards a few clinical features, and their clinical description is often limited.
In a joint effort to promote genetic research, members and non-members of EpiCARE, conveyed into this WG the knowledge and opportunities that have derived by their participation as active members to major concluded and existing EU research networks on epilepsy research in genetics and rare epileptic encephalopathies. To boost the genetic research activities we contributed to the development of a web-platform for patients’ matchmaking, interoperable with other discovery services, based on the RD-NEXUS tool, and provided by the European Joint Project in Rare Disease (EJPRD) to support the wider ERN community. Furthermore, a dedicated webpage offers the possibility to all medical teams to share opportunities of collaborative calls, recruit cohorts of patient carrying rare variants in genes without a well-defined phenotypic spectrum, where single-centre studies would not yield significant series.
ERN-EpiCARE has also joined, as an associated ERN, Solve-RD, a Horizon2020- funded project, dedicated to “solve the unsolved rare diseases”. This will permit the re-analysis of unsolved exomes and genomes of patients with rare developmental and epileptic encephalopathies (DEE) or other rare epilepsy syndromes. Members of the WG regularly contribute to educational webinars focusing on genetic epilepsies, organized by the Education and Training WG. The presentations systematically combine a clinician and a geneticist. When appropriate a patient advocate in also involved. A “training in genetics of the epilepsies” workshop is under preparation.
June 2025. Salzburg (Austria). Gaetan Lesca. What will be the main actions of the WG in genetic research in the coming 5 years?
In a joint effort to promote genetic research, members and non-members of EpiCARE, conveyed into this WG, together with the one on Clinical Genetics, the knowledge and opportunities that have derived by their participation as active members to major concluded and existing EU research networks on epilepsy research in genetics and rare epileptic encephalopathies, which include:
If you are interested to voluntarily contribute to this WG activities, please use the contact form to let us know.
