Sabrina Rita Giglio

Biography

1993 Degree in Medicine and Surgery, University of Sassari (110110) 1997 Diploma in Specialization in Human Genetics (5050 and Praise) at the University of Pavia 1997-2000 Ph.D. in "Human Pathology" at the Department of Human and Infertility Pathology of the University of Pavia having as Professor Orsetta Zuffardi tutor. In this field, twelve medical students attend their internships. 1999-2000 Project Manager "Molecular Causes of Invagination Chromosome Reorganization (8p)" at the Department of Human Genetics at the University of Chicago, led by Prof David H Ledbetter. 2000-2001 He is a researcher in the field of medical sciences and as such performs his research activity at the Institute of General Biology and Medical Genetics at the University of Pavia, working with Prof. Zuffardi. 2000-2002 He holds seminars at the School of Specialties in Medical Genetics and follows two specialists for their clinical and dysmorphological preparation. 2001-2004 Head of Genetics Service at the San Raffaele Hospital in Milan May 2003 He has qualified for second level university professor for the scientific-disciplinary sector MED / 03 - "Genetica Medica" -Faculty of Medicine and Surgery 2004-2005 Head of Medical Manager at U.O. of Medical Genetics at the Meyer Hospital From AA 2004-2005 is a contract professor at the Faculty of Humanities and Philosophy of the University of Pavia's studies 2005 -..... Associate Professor in Medical Genetics at the University of Florence He is involved in phenotype / karyotype correlations, and for several years he has been engaged in dysmorphic counseling, prenatal, postnatal, and reproductive genetic counseling. His research activity is focused in particular on the study of molecular causes and risk factors that predispose to recurrent chromosomal abnormalities in the population. She is also working with the Meyer Hospital Diabetology, the genetic study of MODY type monogenic diabetes, and, in collaboration with the Meyer Nephrology Service, the genetic study of Acidosis Renali Tubulari Distali. It follows from a clinical and molecular point of view bone and eye pathologies linked to alterations of the COL2A1 gene. He has been working as a medical geneticist for several years as part of the diagnostic protocol and general follow up of children with ectodermal dysplasia. He collaborates with Professor Renzo Guerrini, as part of a project for early clinical and molecular diagnosis in the prevention of cerebral cortex malformations. He has excellent knowledge of English, computer science and bioinformatics.

Research Interest

Medical genetics