Director of Italian National Centre for Rare Diseases, Italy
ITALY
Director of Italian National Centre for Rare Diseases, Italy.
Domenica Taruscio, M.D. pathologist, is the director of the Italian National Centre for Rare Diseases at the Italian National Institute of Health (Rome, Italy); she has been the Italian COMP (Committee for Orphan Medicinal Products) Member at EMA (2000-2009); member of the former European Rare Diseases Task Force and EUCERD (European Union Committee of Experts on Rare Diseases), Member of “Health Research” Advisory Group; coordinator of EUROPLAN (European Project for Rare Diseases National Plans Development) and EPIRARE (European Platform for Rare Disease Registries) projects, President of ICORD (2010-2012 www.icord.se). Her efforts are directed mainly to tackle rare diseases from science to society.
PUBLICATIONS:
The Role of microRNAs in the Biology of Rare Diseases
Falbo V, Floridia G, Tosto F, Censi F, Salvatore M, Ravani A, Ferlini A, Melis MA, Grasso M, Bricarelli FD, Taruscio D. The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5- year survey. Genet Test. 2008 Jun;12(2):279-88.
Agazio E, Salerno P, Mirabella F, Gnessi F, Mastroiacovo P, Morosini P, Tarsitani G, Taruscio D; Associazioni Nazionali dei Pazienti Malattie Rare. [Accessibility and quality to health social services in Italy for the patients with rare diseases: the opinion of associations]. Ann Ig. 2005 Mar-Apr;17(2):121-8.
Knight AW, Taruscio D. International conferences on rare diseases: initiatives in commitment, patient care and connections. Med J Aust. 2007 Jul 16;187(2):74-6. Orlando C, Verderio P, Maatman R, Danneberg J, Ramsden S, Neumaier M, Taruscio D, Falbo V, Jansen R, Casini-Raggi C, Malentacchi F, Marubini E, Pizzamiglio S, Vernelen K, Libeer JC, Palicka V, Pazzagli M. EQUAL-qual: a European program for external quality assessment of genomic DNA extraction and PCR amplification. Clin Chem. 2007 Jul;53(7):1349-57.