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 […]

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 […]