Who we are

ERN-ITHACA is a patient centred network which meets the needs for highly specialized, multidisciplinary healthcare for patients with rare (multiple) malformation syndromes and rare intellectual and other neurodevelopmental disorders of genetic, genomic/chromosomal or environmental origin, both diagnosed and undiagnosed.

ITHACA stands for Intellectual disability, TeleHealth, Autism and Congenital Anomalies. The name ITHACA also refers to the Odyssey that for many families the diagnostic journey of a child with a rare developmental disease represents

ITHACA Coordination

Led by Prof. Alain VERLOES at APHP-Robert DEBRE University Hospital since March 2019, ERN-ITHACA is a network of rare disease specialists, patients and lay groups from European countries.

ITHACA currently consists of 37 full Member HCPs from 13 Member States, and one Associate Member HCP from a 14th country (Hungary).  – with more to follow in 2020 -. Through sharing expertise, experience and resources, ERN-ITHACA aims to further patient care, research and access to information about rare congenital malformations and intellectual disability.

ERNs and the Brexit

ERN ITHACA was established by Pr. Jill Clayton-Smith and Manchester University NHS Foundation Trust (MUH) acting as HCP in 2017. Pr. Clayron-Smith successfully established the network. The forced transfer of coordination to Pr. Alain Verloes of the Assistance Publique-Hôpitaux de Paris (APHP) HCP  process was a serious unpredicted and unwanted consequence of the Brexit process to ERN organisation.

Pr. Verloes was elected by the Board of ITHACA as the new coordinator in October 2018, and the transfer made official in March 2019, after the 2nd year of existence. Procedure of transfert ended in August 2019.