Rare Diseases Research (RDR) Challenge #4: Development of a novel pre-clinical assay (TRXassay) to detect triplet repeat expansions

EJP RD’s innovative Rare Diseases Research (RDR) Challenges call in partnership with Fondation Maladies Rares was aimed at facilitating and funding collaboration between industry, academia, SMEs, and patient organisations to solve specific research challenges in rare diseases. The fourth challenge issued under the RDR call was for the development of a pre-clinical assay to detect instability of microsatellite repeat expansions. We are glad to…

EJP RD Training Workshop: Genetic Biobanks for rare disease research

University Medical Centre Groningen (UMCG) and Fondazione Telethon (FTELE) along with other EJP RD partners are organizing an EJP RD Training Workshop titled « Genetic Biobanks for Rare Disease Research » targeted at biomedical researchers, medical professionals, and biobank managers who want to learn about genetic biobanks in rare disease research. The training workshop will take place online over…

ProDGNE Meeting 2022

The ProDGNE consortium is organising the ProDGNE Meeting 2022, a multi-stakeholder opportunity to meet in person, discuss impactful research in GNE Myopathy (GNEM) and expand the research network while building a long-term partnership where patients are central partners, key drivers and decision makers in R&D.  The meeting will be held on May 31st, 2022 in Portugal (Sala Ágora, NOVA School…