Domenica Taruscio is the Director of the National Centre for Rare Diseases at the Italian National Institute of Health (Istituto Superiore di Sanità – ISS, Rome, Italy)
Director of research on rare diseases at the Italian National Institute of Health
She performed her medical degree (Summa cum laude) and specialization in histopathology at Bologna University; post-doctoral studies in human genetics at Yale University (CT-USA); master in bioethics (Sapienza University, Rome).
Author of more than 150 scientific peer-reviewed publications
Co-Chair of the Interdisciplinary Scientific Committee of IRDiRC
Co-founder of the Undiagnosed Diseases Network International (UDNI)
Scientific leader of the bilateral agreement on rare diseases between ISS-Italy and NIH-USA (since 2003 up to now)
Past President of ICORD – International Conference on Rare Diseases & Orphan Drugs (2010-2012) and currently ICORD Board Member
She is or has been member of several International (e.g. COMP-EMA, EUCERD) and National Committee (National Plan for Rare Diseases; Italian National Body for European Reference Networks; National Program on Expanded Newborn Screening)
Scientific coordinator of several EU projects (among them: NEPHIRD, EUROPLAN, EPIRARE, RARE-Bestpractices); WP Leader (RD-Connect Registry WP; Advance-HTA, BURQ-OL, E-RARE, EUROCAT Joint Action; EUCERD Joint Action, RD-Action).
Principal Investigator of the bilateral project Italy (ISS)-USA (NIH) “Undiagnosed rare diseases (2015-2018)
Director of the International School on Rare Disease and Orphan Drug Registries