Research Workgroup
Workpackage leads
Pr Marco Tartaglia (Italy)
Pr Zeynep Tümer (Danemark)
ITHACA PM Contact
Key objectives
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.
Deliverables
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.
