Pr Marco Tartaglia (Italy)
Pr Zeynep Tümer (Danemark)
To set up the infrastructure and improve collaborative research into ITHACA diseases both from a diagnostic point of view (identification of new disease genes) and from the point of view of understanding disease mechanisms.
D7.1: Produce collaborative research studies on a series of patients with unsolved disorders or on mechanisms of RD. At least 3 collaborative works (publications, conference papers, etc.) citing ITHACA and listed on the ERN website, describing new genes or pathogenic mechanisms.