Networking Support Scheme (NSS) Event: 5th European Aniridia Conference

The 5th European Aniridia Conference is being organised to enable the sharing of scientific knowledge about the rare genetic eye condition aniridia to prevent sight loss and deal with aniridia’s effects. This workshop has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity. The fully online conference will take place over two days from July 31st…

EATRIS: Translational Medicine Explained (TMex) digital course 2021

Interested in discovering the landscape of Translational Medicine? Learn from scientists in academia, industry and regulatory agencies and join the 2021 TMex winter school!  EATRIS is organising the TMex (Translational Medicine Explained) Winter School that is targeted to PhD students in the second half of their PhD, early postdocs and other young scientists who are involved in biomedical…

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…

ERN-Skin launches webinar series on rare skin diseases

The European Research Network for rare skin diseases (ERN-Skin) is launching a series of scientific webinars on rare skin diseases. Each 1-hour webinar will consist of a 30-minute presentation and a 30-minute discussion. The two upcoming webinars are: June 29th from 13.00 – 14.00 CET:  Genetic discoveries in ichthyosis – Keith Choate  Chaired by Juliette…

EBiSC Bank for induced pluripotent stem cell (iPSC) Lines

The European Bank for induced pluripotent Stem Cells (EBiSC) is a non-profit induced pluripotent stem cell (iPSC) repository based in Germany and the UK that has collected, safeguarded and distributed >900 iPSC lines since 2014.  These lines were generated in diverse research projects across the EU and USA, including StemBANCC, HipSci and IMI-ADAPTED. Through these experiences,…