Medical Genetics

BIOGRAPHY

CURRENT POSITIONS:
• Director of the Telethon Institute of Genetics and Medicine (TIGEM)
• Full Professor of Medical Genetics at the Federico II University of Naples
• Professor at the Department of Molecular and Human Genetics, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute

EDUCATION:
• MD, 1981 University of Naples, Italy
• Residency training in Pediatrics, University of Naples, Italy

MEMBERSHIPS:
Professor Ballabio was the President of the European Society of Human Genetics and is a Council member of the European Molecular Biology Organization (EMBO).

HONORS, AWARDS:
He has received numerous national and international awards for research and
culture, including the 2007 International Award of the European Society of Human
Genetics. In 2007 he was appointed 'Commendatore of the Italian Republic' by the
President of Italy, Giorgio Napolitano. In 2010 he received the Advanced Investigator Award of the European Research Council.

RESEARCH INTERESTS:
His main scientific interests are the identification of the molecular basis and pathogenetic mechanisms of genetic diseases as well as the use of functional genomics in medicine. He and others have recently identified the gene responsible for Multiple Sulfatase Deficiency (MSD) and have generated a mouse model that faithfully recapitulates the human disorder. This mouse will be crucial to understand the pathophysiology of MSD and related disorders (WP1).