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Genetics Specialised Group

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.