Marco Seri
Marco Seri
affiliation: Università di Bologna
research area(s): Genetics And Genomics, Molecular Biology
Course: Biomedical Sciences and Human Oncology
University/Istitution: Università di Torino
Education and training
1983: Undergraduate degree Diploma di Maturità Scientifica, Liceo G.Galilei in Siena.
1987-1990: Student, Institute of Medical Genetics, University of Siena.
1990: degree in Medicine, University of Siena.
1991: Fellowship of the Consorzio Siena Ricerche
1992: Fellow at the Gaslini Institute in Genoa
1994: Specialist in Medical Genetics, University of Genoa.
1996: Visiting scientist at the Telethon Institute of Genetics and Medicine, (TIGEM), Milan.

1990: Graduate summa cum laude
1993: SISECM Award

Professional activities
1987-1990: Student, Institute of Medical Genetics, University of Siena.
1990-1992: MD, Institute of Medical Genetics, University of Siena.
1992-1993: Fellowship, III Divisione Pediatria, Institute G. Gaslini, Genoa. 1993-2001: Staff Scientist, Laboratory of Molecular Genetics, Institute G. Gaslini, Genoa.
2001-to date: Associate Professor in Medical Genetics, University of Bologna Medical School, Bologna.
2010 November 1st-to date: Director of the Medical Genetics Unit at the Sant'Orsola-Malpighi Hospital, Bologna

Clinical activities
1990-to date: Genetics counsellor, Institute of Medical Genetics (Siena), Institute G. Gaslini (Genoa)and S.Orsola-Malpighi Hospital (Bologna).

Teaching activities
1997-2001: Lecturer in Medical Genetics, University of Genoa Infectious Diseases School, Genoa.
1998-2002: Lecturer in Human Genetics, University of Sassari Medical School, Sassari.
2001-to date: Associate Professor in Medical Genetics, University of Bologna Medical School, Bologna.
1987-1990: Research area: Common fragile sites.
1990-1992: Research area: a) Genetic characterization of haptoglobin and
alpha-1-antitrypsin and identification of the P and I variants of alpha-1-antitrypsin; b) Molecular characterization of patients affected with Alport Syndrome.
1992-1993: Research area: Molecular characterization of Italian patients affected with Gaucher disease and genotype/phenotype correlation.
1993-2001: Research area: a) Identification of the gene responsible of Hirschsprung disease; b) Molecular characterization of rare genetic disorders. In particular: genetic mapping of a rare complicated form of spastic paraparesis; molecular characterization of Nail-patella patients, identification of a susceptibility locus in familial neuroblastoma; identification of the gene responsible for Fechtner syndrome.
1996 (March-July): Research area: Positional cloning of the X-linked lymphoproliferative disease.
2001-to date: Research area: a) Molecular characterization of Hereditary Spastic Paraplegia; b) MYH9-related diseases and other thrombocytopenias c) Application of new technologies (array-CGH, NGS) to identify the genetic bases of inherited disorders.
Most 5 recent peer-reviewed publications

1) Garone C, Pippucci T, Cordelli DM, Zuntini R, Castegnaro G, Marconi C, Graziano C, Marchiani V, Verrotti A, Seri M, Franzoni E. FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. Dev Med Child Neurol. 2011 May 18. doi: 10.1111/j.1469-8749.2011.03993.x. [Epub ahead of print]

2) Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, Punzo F, Melazzini F, Scianguetta S, Casale M, Marconi C, Pippucci T, Amendola G, Notarangelo LD, Klersy C, Civaschi E, Balduini CL, Savoia A. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Blood. 2011 Jun 16;117(24):6673-80. Epub 2011 Apr 5.

3) Wischmeijer A, Magini P, Giorda R, Gnoli M, Ciccone R, Cecconi L, Franzoni E, Mazzanti L, Romeo G, Zuffardi O, Seri M. Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. Mol Syndromol. 2011 Jan;1(4):176-184. Epub 2010 Nov 25.

4) Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet. 2011 Jan 7;88(1):115-20

5) Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM. Novel mutations in the USH1C gene in Usher syndrome patients. Mol Vis. 2010 Dec 31;16:2948-54.

Project Title:
Genetic bases of birth defects
The project aims to identify the genetic bases of different inherited disorders through the application of new technologies (array-CGH, NGS).