Clinical Genetics & Genomics Department

ERN-ITHACA: European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders

European Reference Networks (ERNs) are virtual networks that involve healthcare providers across Europe, with the primary aim of improving access to diagnostic services and the delivery of high-quality healthcare for patients with conditions that require specialized resources or expertise. ERNs also serve as centers for medical training, research, information dissemination, and evaluation, particularly for rare diseases.

The Department of Clinical Genetics and Genomics is an official full member of ERN-ITHACA, as the designated expert centre in Cyprus for rare malformation syndromes, intellectual and other neurodevelopmental disorders. ERN-ITHACA unites experts from 25 different European Union member states, and our department's membership significantly enhances the cross-border collaborative efforts of our clinic, fostering networking and knowledge exchange with colleagues across Europe. The core objectives of ERN-ITHACA include providing an infrastructure for accurate diagnosis, evidence-based management, and the collection of patient data. The network contributes to existing services by disseminating best practice guidelines, facilitating healthcare provider training, and advancing research and the development of future therapies.

Additional goals of ERN-ITHACA encompass the creation of pan-European patient registries and fostering international research collaborations. Numerous collaborative projects within ERN-ITHACA focus on rare ITHACA-related conditions, enabling members to contribute valuable data to these efforts. In addition, ERN-ITHACA members had the opportunity to contribute data from patients who remain without a diagnosis to SOLVE-RD, a pan-European research initiat
 

For more information on the ERN-ITHACA click here.