Domenica Taruscio

Director of the National Centre for Rare Diseases (Istituto Superiore di Sanità)
http://www.iss.it/cnmr

Domenica Taruscio, director of the Italian National Centre for Rare Diseases, is a M.D. pathologist, specialized in bioethics and genetics; her efforts are mainly focused on addressing rare diseases from a scientific to a societal perspective.

From 2000 to 2009 she has been the Italian Member to the Orphan Drug Committee (COMP) at the European Drug Agency (EMA). From 2010 she is Member of EUCERD (European Union Committee of Experts on Rare Diseases), President of ICORD (International Conference on Rare Diseases and Orphan Drugs), WP Leader of EUROCAT Project - “Primary prevention of birth defects” - and Principal Investigator of European Project EPIRARE. In particular, from 1989 to 1991 she underwent post-doctoral training at the Dept. of Human Genetics - Yale University (New Haven, USA) and, from 1992 to 1994 was a visiting researcher at the Dept. of Pathology - Columbia University (New York, USA). She is currently Director of the National Centre for Rare Diseases at the Istituto Superiore di Sanita’ (Rome, Italy). She is member of the following national and international working Groups and Committees: 2000-today OECD Contact Point for “Genetic Testing Regulation in Italy”; 2000-2009 Italian Member of Committee for Orphan Medical Products-COMP (EMA).

2001 – Italian Member of OECD Steering Committee on Genetic Tests; 2002-today Member of the Italian National Committee on Genetic testing of the Italian Ministry of Health; 2002-today Member of the Italian National Committee on “Task Force on rare diseases” of the Italian Ministry of Health;

2002 - Scientific expert at the Italian Commission on Drugs (CUF). 2000-2009 Italian Member at the Committee on Orphan Medicinal Products (COMP) at the (European Medicinal Agency-EMA) 2004-today Member of the Task Force Rare Diseases (DG-Sanco, European Commission) 2008-2010 WP Leader of Rare Diseases in TeddyNoE 2008-2011 Principal Investigator of European Project EUROPLAN 2009-today Member of the "Health Research" Advisory Group (DG Research, European Commission) 2009-today Member in National Commission and International Commission related to rare diseases and orphan drugs 2010 Member of EUCERD (European Union Committee of Experts on Rare Diseases) http://www.eucerd.eu

2010 – President of ICORD (International Conference on Rare Diseases and Orphan Drugs) http://icord.se 2010-2013 WP Leader - “Primary prevention of birth defects” - EUROCAT http://www.eurocat-network.eu

2011-2013 – Principal Investigator of the European Project EPIRARE http://www.epirare.eu She is the Scientific Coordinator of several national and international projects on rare diseases. She is an OECD expert (genetic testing), member of the European Molecular Genetics Quality Network management board (EMQN), and of the advisory board of Eurogentest (NoE).

Selected scientific publications:

Folic acid and primary prevention of birth defects. Taruscio D, Carbone P, Granata O, Baldi F, Mantovani A. Biofactors. 2011 Jul;37(4):280-4

Oxidative stress activation of miR-125b is part of the molecular switch for Hailey-Hailey disease manifestation. Manca S, Magrelli A, Cialfi S, Lefort K, Ambra R, Alimandi M, Biolcati G, Uccelletti D, Palleschi C, Screpanti I, Candi E, Melino G, Salvatore M, Taruscio D, Talora C. Exp Dermatol. 2011 Aug 6

Three cases of rare salivary gland tumors: a molecular study of TP53, CDKN2A/ARF, RAS, BRAF, PTEN, MAPK2 and EGFR genes. Falbo V, Floridia G, Censi F, Marra M, Foschini MP, Taruscio D. Oncol Rep. 2011 Jul;26(1):3-11.

Mortalità associata alla neurofibromatosi di tipo 1: uno studio basato sui certificati di morte italiani (1995-2006). Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D. Orphanet J Rare Dis. 2011 Mar 25;6:11.

Rare diseases and orphan drugs. Taruscio D, Capozzoli F, Frank C. Ann Ist Super Sanita. 2011;47(1):83-93

Characterization of HuH6, Hep3B, HepG2 and HLE liver cancer cell lines by WNT/β - catenin pathway, microRNA expression and protein expression profile. Di Masi A, Viganotti M, Antoccia A, Magrelli A, Salvatore M, Azzalin G, Tosto F, Lorenzetti S, Maranghi F, Mantovani A, Macino G, Tanzarella C, Taruscio D. Cell Mol Biol (Noisy-le-grand). 2010 Jun 10;56.

National plans and strategies on rare diseases in Europe. Taruscio D, Vittozzi L, Stefanov R. Adv Exp Med Biol. 2010;686:475-91

Zuntini M, Salvatore M, Pedrini E, Parra A, Sgariglia F, Magrelli A, Taruscio D, Sangiorgi L. MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures. Clinical genetics 2011;78(6):507-516

Censi F, Falbo V, Floridia G, Salvatore M, Tosto F, De Rosa M, Resta N, Izzo P, Guanti G, Taruscio D. The Italian External Quality Control Program for Familial Adenomatous Polyposis of the Colon: Five Years of Experience. Genet Test Mol Biomarkers; 2010 Apr;14(2):175-81.

Cialfi S, Oliviero C, Ceccarelli S, Marchese C, Barbieri L, Biolcati G, Uccelletti D, Palleschi C, Barboni L, De Bernardo C, Grammatico P, Magrelli A, Salvatore M, Taruscio D, Frati L, Gulino A, Screpanti I, Talora C. Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease. Br J Dermatol. 2010 Mar;162(3):518-26

Caprini E, Cristofoletti C, Arcelli D, Fadda P, Citterich MH, Sampogna F, Magrelli A, Censi F, Torreri P, Frontani M, Scala E, Picchio MC, Temperani P, Monopoli A, Lombardo GA, Taruscio D, Narducci MG, Russo G. Identification of key regions and genes important in the pathogenesis of Sezary syndrome by combining genomic and expression microarrays. Cancer Res. 2009 Nov 1;69(21):8438-46.

Magrelli A, Azzalin G, Salvatore M, Viganotti M, Tosto F, Colombo T, Devito R, Di Masi A, Antoccia A, Lorenzetti S, Maranghi F, Mantovani A, Tanzarella C, Macino G, Taruscio D. Altered microRNA Expression Patterns in Hepatoblastoma Patients. Transl Oncol. 2009 Aug 18;2(3):157-63.

Tosto F, Salvatore M, Falbo V, Floridia G, Censi F, Bombieri C, Rosatelli MC, Taruscio D. The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey. Genet Test Mol Biomarkers. 2009 Feb;13(1):31-6.

Salerno P, Bianchi F, Pierini A, Baldi F, Carbone P, Mantovani A, Taruscio D. [Folic acid and congenital malformation: scientific evidence and public health strategies]. Ann Ig. 2008 Nov-Dec;20(6):519-30.

Salvatore M, Lorenzetti S, Maranghi F, Mantovani A, Taruscio D. Molecular link(s) between hepatoblastoma pathogenesis and exposure to di-(2-ethylhexyl)phthalate: a hypothesis. Folia Med (Plovdiv). 2008 Oct-Dec;50(4):17-23.

Ceci A, Giaquinto C, Aboulker JP, Baiardi P, Bonifazi F, Della Pasqua O, Nicolosi A, Taruscio D, Sturkenboom M, Wong I. The Task-force in Europe for Drug Development for the Young (TEDDY) Network of Excellence. Paediatr Drugs. 2009;11(1):18-21.

Kodra Y, Giustini S, Divona L, Porciello R, Calvieri S, Wolkenstein P, Taruscio D. Health-related quality of life in patients with neurofibromatosis type 1. A survey of 129 Italian patients. Dermatology. 2009;218(3):215-20. 2008 Dec 17.

Floridia G, Falbo V, Censi F, Tosto F, Salvatore M, Baroncini A, Battaglia P, Conti A, Donti E, La Starza R, Nitsch L, Pierluigi M, Piombo G, Susca F, Mancini M, Mecucci C, Calzolari E, Dagna Bricarelli F, Guanti G, Taruscio D. The Italian external quality assessment scheme in classical cytogenetics: four years of activity. Community Genet. 2008;11(5):295-303.

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.

Giordano F, Carbone P, Nori F, Mantovani A, Taruscio D, Figà-Talamanca I. Maternal diet and the risk of hypospadias and cryptorchidism in the offspring. Paediatr Perinat Epidemiol. 2008 May;22(3):249-60.

Kodra Y, Salerno P, Agazio E, Mirabella F, Taruscio D. [Accessibility and quality of Italian health and social services: the experiences of patients with neurofibromatosis type 1 and of their relatives]. Ann Ig. 2007 Sep-Oct;19(5):443-50.

Taruscio D, Trama A, Stefanov R. Tackling rare diseases at European level: why do we need a harmonized framework? Folia Med (Plovdiv). 2007;49(1-2):59-67.

Caliandro P, Grugni G, Padua L, Kodra Y, Tonali P, Gargantini L, Ragusa L, Crinò A, Taruscio D. Quality of life assessment in a sample of patients affected by Prader-Willi syndrome. J Paediatr Child Health. 2007 Dec;43(12):826-30.

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.

McGovern MM, Elles R, Beretta I, Somerville MJ, Hoefler G, Keinanen M, Barton D, Carson N, Dequeker E, Brdicka R, Blazkova A, Aymé S, Schnieders B, Muller CR, alen V, Martinez AA, Kristoffersson U, Ozguc M, Mueller H, Boone J, Lubin IM, Sequeiros J, Taruscio D, Williamson B, Mainland L, Yoshikura H, Ronchi E. Report of an international survey of molecular genetic testing laboratories. Community Genet. 2007;10(3):123-31.

Kodra Y, Morosini PR, Petrigliano R, Agazio E, Salerno P, Taruscio D. Access to and quality of health and social care for rare diseases: patients' and caregivers' experiences. Ann Ig. 2007 Mar-Apr;19(2):153-60.