News

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 […]

We are pleased to announce the 2026 international “Dysmorphology Summer”, which will take place on August 20–22, 2026 in Palanga, Lithuania.  This annual meeting has deep traditions of bringing together clinical geneticists, medical geneticists, neonatologists, and other specialists working with rare diseases and syndromology. Participants review challenging diagnostic dilemmas, and explore the latest advances in diagnostic and treatment possibilities in an open and friendly […]

In December 2025, HLM RARE 2025 brought together EU policymakers, ERNs, patient organisations, researchers and industry leaders in Brussels to advance a stronger European ecosystem for rare and complex diseases. A key milestone was the launch of the Declaration on a European Innovation and Care Ecosystem for Rare and Complex Diseases, a political commitment structured […]

The ITHACA Research Workgroup is pleased to announce its first 2026 workshop, dedicated to open collaborative calls, that Ill be held on May 12, from 2:00 to 5:00 PM. This session will provide an opportunity to present and discuss ongoing research projects and foster collaboration. Participants who wish to present their research (10–15 minutes) are […]

We are delighted to announce the Second Global and Sixth International Symposium Rare Disease Day 2026, held in recognition of Rare Disease Day and Sleep Awareness Month. The event is organized by the Regional Specialized Children’s Hospital in Olsztyn and the University of Warmia and Mazury in Olsztyn, under the auspices of EURORDIS (rarediseaseday.org) and […]

Abstract submission for the next ECRD Conference will close on March 6. The next ECRD will be held on 3 & 4 June 2026 in Prague  and online and will be titled “Rare Diseases in a Changing & Competitive Europe: Shaping policies to address the unmet needs of people living with rare diseases”.   The European Conference on Rare Diseases […]

We are pleased to invite you to the inaugural online ITHACA Clinic, scheduled for March 6th from 12:00 to 13:30 CET on the CPMS 2.0 platform, chaired by Sofia Douzgou Houge and Adela Chirita-Emandi.The ITHACA Clinic is a multidisciplinary forum bringing together clinicians, molecular geneticists, and researchers to provide expert recommendations on challenging cases. Beyond […]

A groundbreaking new publication has been released, aiming to improve patient care for individuals with Kleefstra syndrome worldwide. The first clinical guideline for the syndrome, developed by an international consortium under the umbrella of the ERN-ITHACA, is now available for use in clinical practice. Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder characterized by […]

The16th Introductory Skeletal Dysplasias Course (Reggio Emilia, June 29 – July 3, 2026) is now open to applications! The Skeletal Dysplasia Course is intended to provide an introduction to the clinical and radiographic diagnostics and clinical management of skeletal dysplasias, as well as to the molecular bases and therapeutic approaches. The Course is conceived for […]

We are pleased to announce that the 8th European FASD Conference will be held in beautiful Amiens, France, from 13th to 16th September 2026. The conference, held in Europe every two years, is the main event on Fetal Alcohol Spectrum Disorders (FASD), and a great opportunity to put FASD in the spotlight. EUFASD 2026 is organized by Vivre Avec Le SAF in partnership […]