News

We are very pleased to announce that the ITHACA guideline “Transition from children’s to adults’ healthcare for youth with (genetic) intellectual disabilities” has been accepted for publication in the Journal of Intellectual Disability Research. Developed by the Transition of Care consortium convened by the ERN-ITHACA Guideline Workgroup, this guideline represents an important step toward improving […]

We are pleased to invite you to the upcoming Research Workshop, organized by Marco tartaglia and Zeynep Tumer of the ERN-ITHACA Research Workgroup. This workshop will present 12 open calls for collaboration from the ERN and will discuss how to strengthen interactions and identify possible synergies.  🗓️ Date & Time: 22 October, 14:00-17:30📍 Location: Online […]

We are excited to officially launch the registration and abstract submission for the third edition of the EuroNDD meeting, the first European workshop for a multidisciplinary view on rare genetic neurodevelopmental disorders! Building on the success of previous editions, next year’s meeting will feature research presentations, panel discussions, and interactive workshops designed to encourage knowledge-sharing […]

NON-CODING GENOME AND HUMAN DISEASE Recent developments in genomic technologies have enabled the genome-wide identification of regulatory elements and chromatin interactions, controlling the spatiotemporal gene expression. In this webinar, we will explore the significant involvement of non-coding genome in various human diseases, a rapidly evolving field of human genomics.  HERE to register and see the full […]

The Mobile Apps of CPMS 2.0 are now officially available to the general public on both Android and Apple stores, ready to unleash the power of portability and maybe revolutionize the way we will collaborate on the go! This achievement is coupled with the deployment of release 4.2 of CPMS 2.0 desktop, which remains the […]

ERDERA has launched its Networking Support Scheme (NSS), a continuously open call designed to knit together researchers, clinicians and patient advocates working on rare diseases and rare cancers. Under the scheme, applicants can request up to €30 000 per networking event to cover meeting costs, travel costs, hybrid-meeting platforms and other essentials. Rounds will be held every six […]

The deadline to submit your absract for the EuroDysmorpho Workshop has been extended to Friday, June 13, 2025. Eurodysmorpho offers a welcoming platform for early-career clinical geneticists and trained dysmorphologists to come together, share experience, and discuss clinical challenges. We welcome all types of presentations related to human development—from patient series to single case reports. […]

MOOCs are valuable tools to disseminate highly specialised knowledge to large audiences. The ERN is thus partner of two MOOCs: one course created by the late European Joint Program on rare Diseases (EJPRD) and hosted by the Fondation Maladies Rares on how to diagnose rare diseases, and an introductory course on genomic medicine and bioinformatics managed by the Université […]

The SSBP is delighted to advise that Abstract Submission is now OPEN for our 27th SSBP International Research Symposium in Amsterdam, the Netherlands, with the theme “Towards Personalised Care for Rare Genetic Disorders”.  The Conference will be held 4-6th September 2025, with the Educational Day on the 4th September and the Research Symposium 5-6th September […]

European Patient Advocacy Groups (ePAGs) are essentiels to ERNs. Their mission is to be the voice of patients and their families in all the different projects carried out by ITHACA. Within our network, ePAGs and specialists, whether doctors or researchers, work hand in hand towards the same goal: improving the lives of those with rare […]

On behalf of the organizers, we are pleased to invite you to participate in the First Global and Fifth International Symposium Rare Diseases Day 2025 „ More than you can imagine – more than you can dream of!” organized on the occasion of the Rare Disease Day by Regional Specialized Children’s Hospital in Olsztyn and […]