News

The European Rare Diseases Research Alliance (ERDERA) has pre-announced its 2027 Joint Transnational Call, “Catalysing Collaborative Research for Recently Identified Rare Diseases”, expected to open on 1 December 2026. It forms part of ERDERA’s programme of seven Joint Transnational Calls co-funded by the European Commission, alongside contributions from participating national and regional funding organisations.

2026 2027

The Winter School on Fetal Diagnosis aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the addressed fields with interdisciplinary case […]

The ITHACA Clinic is a multidisciplinary forum that brings together clinicians, molecular geneticists, and researchers on the CPMS platform to provide expert recommendations on challenging cases. Beyond a standard consultation, this is an opportunity to leverage the collective intelligence of our network to achieve significant medical impact. Date: 23 October | 15:00-16:30Venue: CPMS PlatformRegistration form: […]

The 10th International Meeting on Rare Disorders of the RAS-MAPK Pathway will take place in Rome on 12–13 October 2026. Registration and abstract submission are open now via the meeting website:https://ern-ithaca.eu/events/rasopathie/ Main topics: As in the previous meetings, the organisers will ask selected experts to present their research, but we also welcome the submission of abstracts on your research topic […]

We are pleased to invite you to the second online ITHACA Clinic, scheduled for 3rd July from 12:00 to 13:30 CET on the CPMS 2.0 platform, chaired by Adela Chirita-Emandi and Sofia Douzgou Houge.The ITHACA Clinic is a multidisciplinary forum bringing together clinicians, molecular geneticists, and researchers to provide expert recommendations on challenging cases. Beyond […]

ERDERA invites the ERN community to an introductory webinar on “The ERDERA Diagnostic Research Workstream – An Overview”, taking place on Thursday, 28 May 2026, from 13:00 to 14:00 CEST. Presented by Holm Graessner, this opening session will explain what the ERDERA Diagnostic Research Workstream does, how it is organised, and how clinicians, researchers and […]

As previously announced, the workshop will take place from September 16-192026, at the University of Pavia, Italy, and is supported by the Italian Clinical Genetics Working Group (Gruppo di Lavoro di Genetica Clinica, SIGU). The workshop is open to any presentation in the field of human development, wether large series of patients or single, illustrative case reports. The programme […]

We are pleased to share that the European Paediatric Neurology Society (EPNS) will hold its 2026 Research Meeting on 16-17 October in Thessaloniki, Greece. The event will feature plenary lectures from leading experts and interactive sessions, including two break-out sessions with five parallel working groups covering Autoimmune & Infectious Diseases, Developmental Neurology & Neurogenetics, Epilepsy, […]

With over 95% of rare diseases still lacking approved treatments, there is a pressing need for specialized education in next-generation therapeutics. To address this gap, the Foundation for Rare Diseases (FFRD) is launching its new Massive Open Online Course (MOOC) on FutureLearn: “From DNA to Cure: Gene and Gene-Modified Cell Therapies for Rare Diseases.” Coordinated by FFRD and developed […]

Following the success of the first ITHACA Clinic, we are pleased to announce the launch of another session. The ITHACA Clinic is a multidisciplinary forum that brings together clinicians, molecular geneticists, and researchers on the CPMS platform to provide expert recommendations on challenging cases. Beyond a standard consultation, this is an opportunity to leverage the […]

With over 95% of rare diseases still lacking approved treatments, there is a pressing need for specialized education in next-generation therapeutics. To address this gap, the Foundation for Rare Diseases (FFRD) is excited to announce the launch of their new Massive Open Online Course (MOOC) on FutureLearn: “From DNA to Cure: Gene and Gene-Modified Cell […]