Workpackage leads

Dr Marco Tartaglia (Italy)

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

  • Expert consensus

    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 (M36).