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
Chair
Alessandra Ferlini
