Dr Domenica Taruscio is the Director of the National Centre for Rare Diseases at the Italian National Institute of Health (Rome, Italy). She holds a specialization in Histopathology (University of Bologna), a master in Bioethics (Sapienza University of Rome), and has carried out her post-doctoral studies in Human Genetics at Yale University (CT-USA).
President (2010-2012) of ICORD and Board Member for several years; in 2014 she co-founded the Undiagnosed Diseases Network International, UDNI (www.udni.org)
She is an active contributor to the development of the European scientific and institutional framework on rare diseases and orphan medicinal products.
In particular, she has been: representative of Italy to the Committee for Orphan Medicinal Productsat EMA (2000-2009); member of: the former European Rare Diseases Task Force; European Union Committee of Experts on Rare Diseases (EUCERD); European Commission Experts Group on Rare Diseases (overall 2004 -18); member of the “Health Research” Advisory Group (EC, DG Research); Management Board of the European Molecular Genetics Quality Network (EMQN).
Coordinator of numerous EU projects on rare diseases such as: NEPHIRD (Network of Public Health Institution for Rare Diseases); EUROPLAN (European Project for Rare Diseases National Plans Development); EPIRARE (European Platform for Rare Disease Registries); EU Tender on EU Newborn Screening Practices; RARE-Bestpractices. Workpackage leader in the EU projects: TEDDY; RD-Connect, Advance-HTA, BURQ-OL, E-RARE, EUROCAT Joint Action, EUCERD Joint Action, RD-Action, European Joint Programme – Rare Diseases.
WP2-coleader of Endo-ERN; WP3-Deputy Leader of EuRRECA (European Registries for Rare Endocrine Conditions).
Member of the Advisory Board of Eurogentest, EUROlinkCat and SOLVE-RD.
She is the Director of the: International Summer School on Rare Disease and Orphan Drug Registries (since 2013); International Course on “Healthcare guidelines for rare diseases: development and quality assessment” (since 2014).
Dr. Taruscio has been a Member of the Interdisciplinary Committee of IRDiRC; Vice-Chair of the Interdisciplinary Committee of IRDiRC (2017-2018) and Chair of the Interdisciplinary Committee of IRDiRC (2018-2019). Currently she is Member of the Funders Constituent Committee of IRDiRC and Member of the Task Force “Clinical Research Networks” of IRDiRC (2019).
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Coauthor of more then 190 peer-reviewed papers (https://www.ncbi.nlm.nih.gov/pubmed/?term=taruscio+d), Reports, Book chapters and co-Editor of the Book “Rare Diseases Epidemiology: Update and Overview”.
For decades, her efforts have been directed to face the many and complex challenges posed by rare diseases and to address them from various facets, from science to society, from experimental research to public health, from training health professionals to the empowerment of patients and their families.
Motivation: Given my long-term and interdisciplinary experience, from experimental research (e.g. genetic testing) to public health, including the coordination of EU-funded projects and my continuing commitment in the field of rare diseases, having always at heart the quality of life of rare disease patients and of their families, I would be glad and honored to serve the community as President-Elect of ICORD.