Training Course: Quality assurance, variant interpretation and data management in the NGS diagnostics era

As part of the training activities proposed by the EJP RD, a 3-day training course titled « Quality assurance, variant interpretation and data management in the NGS diagnostics era » is being organised by Istituto Superiore di Sanità (ISS) in close collaboration with EJP-RD task partners, aimed the international research community: clinicians, medical specialist, laboratory scientists (EBMG-registered), junior laboratory scientists,…

International Summer School 2021: Rare Disease Registries and FAIRification of Data

As part of the training activities proposed by the EJP RD, the International Summer School on Rare Disease Registries and FAIRification of Data is a 5-day online training programme organised by Istituto Superiore di Sanità (ISS) in close collaboration with EJP-RD task partners, aimed at the international research community, clinicians, medical specialists, registry curators, database…

Call for research projects: MTFMT gene and Leigh syndrome

The French Foundation for Rare Diseases (FFRD) in parternship with Association contre les Maladies Mitochondriales (AMMi) are supporting and stimulating biomedical research on MTFMT gene and Leigh syndrome. In the context of the partnership, a call for research projects to develop research on Leigh syndrome and the MTFMT gene is currently open and will close on August 31st at 17:00 CET. All…