The Genetics Specialised Group brings together the Genetics Board and Task Group, combining clinical and scientific expertise in neuromuscular genetics across the ERN EURO-NMD network.
The Group works in close collaboration with RD-Connect, ESHG, Eurogentest, EMQN, EAN and other EU networks and projects.
Aims of the Genetics Working Group
- Revising and developing genetic diagnostic guidelines
- Creating and disseminating educational resources
- Integrating NGS methodologies into clinical practice
- Promoting data sharing initiatives
- Promoting ENMC workshops
Key Achievements
- A dedicated EQA scheme for neuromuscular disorders was piloted in 2024 in collaboration with EMQN. It is now offered as part of the EMQN germline EQA programme.
- Genetics Group members contributed to the landmark paper “Recommendations for whole genome sequencing in diagnostics for rare diseases” (Nature, 2022), produced in collaboration with EuroGentest, Solve-RD, and EMQN.
- The Group conducted the first Europe-wide survey of genetic testing for neuromuscular diseases across ERN EURO-NMD HCPs. Results were published as “Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study” (PLOS ONE, 2020).
- The Group has actively prepared and submitted workshop proposals to the ENMC to advance consensus building and harmonisation of genetic diagnostics in NMDs.
