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 […]