Genetics

Aims for the Genetics Working Group

  • Revising genetic diagnostic guidelines, educational aspects, data sharing.
  • Stakeholders: RD-Connect, ESHG, Eurogentest, EMQN, EAN and other EU networks.
  • NGS methodologies and applications into clinical practice

Goals for 2019

  • Collecting views and ideas from the Working group

Tasks completed

  • Survey for genetic testing in NMD across ERN
    • Data collection and analysis is in progress to prepare a paper
  • Cost Action application: Genetic testing across ERNs
    • Completed, application submitted the 28th of November 2018
  • ENMC workshop proposal – Designing a roadmap of genetic diagnosis needs for neuromuscular patients: meeting ERN EURO-NMD mission.
    • Rejected

 

Committee Members

 

Name Organisation
Serenella Servidei Fondazione Policlinico Universitario A. Gemelli
Borut Peterlin University Medical Center Ljubljana
Silvere van der Marel Leiden University Medical Center – LUMC

Guidelines recommended by the Genetics Specialised Group group

Recommendations for whole genome sequencing in diagnostics for rare diseases

Nature – May, 2022

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission

“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern“