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 28^th of November 2018
• ENMC workshop proposal – Designing a roadmap of genetic diagnosis needs for neuromuscular patients: meeting ERN EURO-NMD mission.
  • Rejected