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…

Networking Event: Regional Cooperation: Conference on new concepts and approaches in lymphoma

A funded networking event “Regional Cooperation: Conference on new concepts and approaches in lymphoma” is being organised in Belgrade, Serbia on May 27th-29th. This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity as part of the 4th round of funding in March 2021. The event will bring together patients…

1st Workshop on Familial Adult Myoclonic Epilepsy (FAME)

Familial Adult Myoclonic Epilepsy (FAME) is a rare genetic condition, characterized by the occurrence of cortical tremor, myoclonus, and generalized tonic-clonic seizures inherited in an autosomal dominant fashion. A funded networking event “1st Workshop on Familial Adult Myoclonic Epilepsy (FAME)” is being organised in Naples, Italy on May 27th-28th. This event has received funding support…

Networking Event: 12th International Scientific Conference On AKU

A funded networking event “The AKU Scientific Conference” is being organised. This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity as part of the 1st round of funding in March 2020. The meeting will again be held in Brussels, Belgium, at the Vrije Universiteit Brussel (VUB) on Saturday 14th and Sunday…

Networking Support Scheme (NSS) event: TREAT AIE European Conference on Autoimmune Encephalitis

A funded networking event “Treat AIE: First European networking conference to provide guidelines and improve treatment of Autoimmune Encephalitis” is being organised to foster collaboration and improve the future of Autoimmune Encephalitis (AIE). This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity as part of the third round of funding…

STARTS TODAY! Third run of MOOC on Diagnosing Rare Diseases: From the Clinic to Research and back

The third run of the MOOC (Massive Open Online Course) “Diagnosing Rare Diseases: from the Clinic to Research and back” co-developed by the European Joint Programme on Rare Diseases, ERN Ithaca, ERN Genturis and the French Foundation for Rare Diseases starts TODAY (April 18th)!  Registrations are free and open at this link.  We specifically encourage medical and biomedical science students to register…