Domenica Taruscio, MD

//Domenica Taruscio, MD

Domenica Taruscio, MD

Dr. Taruscio is the director of the National Centre for Rare Diseases at the Italian National Institute of Health (Istituto Superiore di Sanità, Rome). She performed her medical studies and specialization in histopathology at Bologna University; postdoctoral studies in human genetics at Yale University (New Haven, Connecticut, USA); master in bioethics (Roma University).

She is a past or present member of the Committee for Orphan Medicinal Products – EMA (2000-2009), European Rare Diseases Task Force, EUCERD, European Commission of Expert Group on Rare Diseases and Health Research Advisory Group (DG-Research), Management Board of the European Molecular Genetics Quality Network, Interdisciplinary Scientific Committee of IRDiRC (, National Committee for the National Plan for Rare Diseases and National Body on European Reference Networks. She is the scientific leader of the bilateral agreement on rare diseases between ISS-Italy and NIHUSA (since 2003 up to now).

Dr. Taruscio is the coordinator of several EU projects including RAREBestpractices (, EUROPLAN (European Project for Rare Diseases National Plans Development,, EPIRARE (European Platform for Rare Disease Registries;, WorkPackage leader in the following EU projects: RD-Connect (, Advance-HTA, BURQ-OL, E-RARE, EUROCAT Joint Action; EUCERD Joint Action, WP co-leader in the RD-Action. She is past president of ICORD – International Conference on Rare Diseases & Orphan Drugs (2010-2012, She is a board member of ICORD ( and the Undiagnosed Diseases International Network (

She is co-author of more than 100 scientific peer-reviewed publications and scientific responsible of several International Courses, Workshops and Congresses.

Her efforts are directed mainly to tackle rare diseases from science to society, building bridges between experimental research and medical humanities together with healthcare operators, patients and their families.