Dr Domenica Taruscio is the director of the Istituto Superiore di Sanità (ISS) (National Center for Rare Diseases) in Rome, Italy.
She holds and M.D. with a specialization in histopathology from the University of Bologna, Italy and an MSc in bioethics from the Rome University. She has carried out post-doctoral studies in Human Genetics at Yale University (CT, USA). Since 2001, she has been in charge of the Italian National Registry of Rare Diseases.
In 2000-2009, she has been the Italian Representative at the Committee for Orphan Medicinal Products (COMP) at the European Medicines Agency. She is also a member of the European Rare Diseases Task Force, the European Union Committee of Experts on Rare Diseases (EUCERD), as well as the European Commission’s European Expert Group on Rare Diseases and the “Health Research” Advisory Group.
Domenica is a member of the Interdisciplinary Committee of International Rare Diseases Research Consortium (IRDiRC) and a member of the Advisory Management Board of the European Molecular Genetics Quality Network (EMQN). She is the scientific coordinator and/or work-package leader of EU and international projects on rare diseases: NEPHIRD, EUORPHAN, EUROPLAN, E-RARE, EPIRARE, RARE-Bestpractices, Advance-HTA, BURQOL-RD, EUROCAT Joint Action and Rare Diseases Joint Action. Since 2003, she has also held the role of the Italian leader of the bilateral scientific agreement between Italy (ISS) and USA (NIH) on rare diseases. She is the author and co-author of more than 100 publications.
In the past, she also held the positions of:
- President of International Collaboration On Repair Discoveries (ICORD) (2010-2012)
- Co-Editor in Chief of Rare Diseases and Orphan Drugs, an international Journal of Public Health
Within RD-Connect, Domenica leads the work on patient registries, registry data interoperability and ID-Cards, the global directory of rare disease registries and biobanks.