Name: Marco Seri.
Date and place of birth: February 13, 1964; Arezzo.
Citizenship: Italian.
Status: Married.
Present affiliation: Full Professor in Medical Genetics, (SSD
MED/03), University of Bologna and Director of the Medical Genetics
Unit at S.Orsola-Malpighi Hospital.
Foreign Languages: English and French
Education:
1990: Graduated “cum Laude” in Medicine, University of Siena.
Thesis: “Toward the searching of genetic susceptibility factors in
lung tumors: evaluation of the chromosomal fragile site 3p14”
Tutor: Prof. Mario De Marchi
1994: Graduated “cum Laude” in Medical Genetics, University of
Genoa. Thesis: “Genetic and clinical aspects of Gaucher Disease:
molecular characterization of 60 Italian patients and
genotype/phenotype correlation”
Fellowships:
1990-1991: fellowship supported by Consorzio Siena Ricerche.
Research area: “Identification and characterization of plasma
genetic markers” carried out at the Institute of Medical Genetics,
University of Siena.
1992-1993: fellowship supported by Institute G. Gaslini. Research
area: “Molecular characterization of patients affected with Gaucher
disease” carried out at 3rd Pediatric Division, Institute G.
Gaslini, Genoa.
Awards:
1993: SISECM prize at the VIII Congresso Nazionale Fisme, Sorrento
(SA) October 7-10: "Gaucher Disease: molecular characterization of
Italian patients by non-isotopic SSCP and genotype/phenotype
correlation” M. Seri, M. Filocamo, F. Corsolini, R. Gatti.
Member of the following Scientific Societies:
1991-to date: Società Italiana di Genetica Umana (SIGU).
1994-to date: European Society of Human Genetics (ESHG).
1999-to date: American Society of Human Genetics (ASHG).
Professional activities:
1987-1990: Student, Institute of Medical Genetics, University of
Siena.
Research area: Common fragile sites.
1990-1992: MD, Institute of Medical Genetics, University of
Siena.
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: Fellowship, 3rd Pediatric Division, Institute G.
Gaslini, Genoa.
Research area: “Molecular characterization of Italian patients
affected with Gaucher disease and genotype/phenotype
correlation”.
1993-to date: Staff Scientist, Laboratory of Molecular Genetics,
Institute G. Gaslini, Genoa.
Research area: a) “Identification of the gene responsible of
Hirschsprung disease and functional studies”; b) “Molecular
characterization of rare genetic disorders and genetic mapping
using the genomewide approach”. In particular: genetic mapping of a
rare complicated form of spastic paraparesis and searching for the
responsible gene; molecular characterization of Nail-patella
patients, identification of a susceptibility locus in familial
neuroblastoma; identification of the gene responsible of the
X-linked lymphoproliferative disease, identification of the gene
responsible for Fechtner Syndrome, Epstein Syndrome, May-Hegglin
Anomaly and Sebastian Syndrome.
1996 (March-July): Visiting scientist at the Telethon Institute of
Genetics and Medicine, (TIGEM).
Research area: Positional cloning of the X-linked
lymphoproliferative disease.
2001-to date: Associate Professor in Medical Genetics, (SSD MED/03)
at the Medical School, University of Bologna and from November 2010
Director of the Medical Genetics Unit at S.Orsola-Malpighi
Hospital. Research area: a) Genetic mapping and identification of
the genes responsible for mendelian inherited disorders: hereditary
spastic paraplegias, a case of familial neuroblastoma, a syndromic
form of pseudoobstruction; b) functional studies in the
MYH9-related disease.
Clinical activities.
1990-1992: Activity of Genetics Counselling at the Institute of
Medical Genetics, University of Siena.
1993-2001: Activity of Genetics Counselling at the Laboratory of
Molecular Genetics, Institute G. Gaslini, Genoa.
2002-to date: Activity of Genetics Counselling at the Institute of
Medical Genetics, S.Orsola-Malpighi Hospital, University of
Bologna.
Teaching activities:
1997-1998: Lecturer in Medical Genetics, University of Genoa
Infectious Diseases School, Genoa.
1998-1999: Lecturer in Human Genetics, University of Sassari
Medical School, Sassari.
2001-2002: Professor in Biology and Genetics, University of Sassari
Medical School, Sassari.
2001-2011: Associate Professor in Medical Genetics, (SSD MED/03),
University of Bologna Medical School, Bologna.
2011-to date: Full Professor in Medical Genetics, (SSD MED/03),
University of Bologna Medical School, Bologna.
