Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries
Member of: Registries
Director of the National Center for Rare Diseases (www.iss.it/cnmr), Istituto Superiore di Sanità (ISS). Research Director.
M.D. with a specialization in Histopathology (University of Bologna), a master in Bioethics (Rome University). She has carried out post-doctoral studies in Human Genetics at Yale University (CT, USA).
She is the scientist responsible for the Italian National Registry of Rare Diseases (since 2001).
She has been the Italian Representative at the COMP (Committee for Orphan Medicinal Products) at EMA (2000-2009); member of the European Rare Diseases Task Force, of EUCERD (European Union Committee of Experts on Rare Diseases) and of the European Expert Group and a Member of the “Health Research” Advisory Group.
Member of the Interdisciplinary Committee of International Rare Diseases Research Consortium IRDiRC (www.irdirc.org); member of the Advisory Management Board of the European Molecular Genetics Quality Network. 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, Rare Diseases Joint Action. Italian leader of the bilateral scientific agreement Italy (ISS) - USA (NIH) on rare diseases (since 2003).
Past-President (2010-2012) of ICORD (www.icord.se).
Co-Editor in Chief of RARE DISEASES AND ORPHAN DRUGS. An international Journal of Public Health (rarejournal.org)
Author and co-author of more than 100 publications (PuBMed).
She leads the RD-Connect work package "Databases and patient registries"