Head of Medical Genetics Laboratory University of Siena
Head of Medical Genetics Laboratory University of Siena.
06/89: Università degli Studi di Siena, Italia – Medicine
06/94: Università di Torino, Italia – Human Genetics
11/98: Università di Firenze, Italia – Medical Genetics Specialty
10/93: Baylor College of Medicine, Houston, Texas, USA M.D. – Research experience in molecular genetics
1993-1998 Medical Assistant – U.O.C. Medical Genetics, AOU Senese, Siena, Italy
1998-2000 Researcher – Ricercatore Genetica Medica, University of Siena, Italy
2000-2007 Associate Professor Medical Genetics – University of Siena, Italy
Dal 2002 Head of U.O.C. Medical Genetics, AOU Senese, Siena, Italy
Dal 2003 Head of School of specialization in medical genetics – University of Siena, Italy
2001-2004 Coordinator of PhD in medical genetics – University of Siena, Italy
Dal 2005 Head of Doctoral School of Oncology and genetics – University of Siena, Italy, that becomes in 2011 PhD in genetics, oncology and clinical medicine (GenOMeC)
Dal 2006 Coordinator of Master inter-Università in “Genetica Clinica”.
Dal 2007 Professor – Medical Genetics, Università di Siena, Italia
OTHER EXPERIENCES AND AFFILIATIONS:
1989-1993 Research Experience at the laboratory of medical genetics, University of Siena, Italy
1993 Research Experience at the Molecular Genetics laboratory (Prof. A. Ballabio), Baylor College of Medicine, Houston, Texas, USA
1991 Clinical Experience as a coordinator of about 1,900 molecular diagnosis (index case) of 15 different monogenic diseases at Medical Genetics, University of Siena
1992-2002 Clinical experience in Genetic Counseling (about 1,240 sessions) at the medical genetics, University of Siena
Dal 1991 Member of the Italian society of human genetics (SIGU)
Dal 1993 Member of the American Society of Human genetics (ASHG)
Dal 1993 Member of the European Society of Human genetics (ESHG)
Dal 1999 Professor of medical genetics at the Faculty of medicine, University of Siena
2004-2009 Member of the Board of the European Society of Human genetics (ESHG)
Dal 2013 SIGU representative in the UEMS (European Union of medical specialties)
Dal 2014 Member of the EBMG (European Board or Medical Genetics)
Dal 2014 Coordinator of the Working Group of the clinical genetics SIGU
Alessandra Renieri e Ilaria Meloni “Diagnostic and therapeutic tools for X-linked mental retardation syndrome “ International application N° PCT/IT03/00134 emesso nel marzo 2003 e pubblicato il16 giugno 2005 AS UD-2005-0130162-A1.
69) Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet. 2005 Feb;42(2):103-7.
71) Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early seizure variant of Rett sindrome. Hum Mol Genet 2005 July 15;14(14):1935-46.
76) Pescucci C, Caselli R, Mari F, Speciale C, Ariani F, Bruttini M, Sampieri K, Mencarelli MA, Scala E, Longo I, Artuso R, Renieri A, Meloni I; XLMR Italian Network. The Italian XLMR bank: a clinical and molecular database. Hum Mutat. 2007 Jan;28(1):13-8.