Domenica Taruscio

Director of the National Center for Rare Diseases at the Italian National Institute of Health

Domenica Taruscio, MD, is the Director of the National Center for Rare Diseases at the Italian National Institute of Health (Istituto Superiore di Sanità, Rome, Italy). Dr Taruscio is an active contributor to the development of the European scientific and institutional framework on rare diseases and orphan medicinal products.
She has been / is involved in many EU projects on rare diseases: as a scientific coordinator of NEPHIRD, EUROPLAN, EPIRARE, RARE-Best Practice, as a Work Package leader on EUROCAT Joint Action, RD-Connect, EUCERD-Joint Action, RD-Action and European Joint Programme – Rare Diseases, she participates in the Endo-ERN and EuRRECa (European Registries for Rare Endocrine Conditions) projects, among others. She also serves on the advisory board of EuroGentest, EUROlinkCat and Solve-RD.

She is the President of ICORD (2021-2022) (http://icord.es/main-menu/board)
She has been ICORD President (2010-2012) and ICORD Board Member for many years.
She is currently a member of the Funders Constituent Committee of IRDiRC (https://irdirc.org),
and was a member of the Interdisciplinary Scientific Committee from 2012-2019 where she occupied the position of Vice-Chair and Chair (Feb 2017 – Feb 2019).

She is co-founder of the Undiagnosed Diseases Network International (UDNI https://www.udninternational.org/).
She is the Italian Representative at the Board of Member States for European Reference Networks at the EU Commission.
Since 2013 she is the Scientific Responsable of the Internazional Summer School on Rare Disease Registries and since 2020 she is the Scientific Responsable of the International Course on International Course Training on strategies to foster solutions of undiagnosed rare disease cases
She organized several International Conferences, Congresses, Courses and Webinars on rare diseases and orphan drugs.

She is co-author of more then 200 pubblications listed in PubMed
(https://www.ncbi.nlm.nih.gov/pubmed/?term=taruscio+d) and several scientific Reports and book chapters and co-Editor of the Book “Rare Diseases Epidemiology: Update and Overview”.