Andrea Ballabio MD, PhD

Andrea Ballabio was born in Naples, Italy on 27 January 1957. After his graduation in Medicine in 1981 at the University of Naples, Italy, he took residency training in Pediatrics at the same university. He has spent several years working in the field of genetic diseases, first in Italy, then in the UK and subsequently in the USA where he held the positions of Associate Professor of Molecular Genetics and of Co-director of the Human Genome Center at the Baylor College of Medicine, Houston, Texas. He is the founder and director of the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, Italy, He is also Professor of Medical Genetics at the Faculty of Medicine of the University of Naples “Federico II” and Professor of Molecular and Human Genetics at Baylor College of Medicine in Houston, Texas.

Professor Ballabio’s research interests are the elucidation of the biological mechanisms underlying genetic diseases, using both traditional and state of the art genomic approaches, and the development of innovative therapeutic approaches. Prof. Ballabio’s team identified numerous genes whose mutations cause human inherited diseases, leading to the unraveling of their pathogenetic mechanisms. His contributions to gene mechanisms in health and disease are found in Xinactivation (XIST), axonal targeting (Kallmann s.), melanosome biogenesis (ocular albinism), mitochondrial biogenesis (hereditary spastic paraplegia), post-translational protein modification (multiple sulfatase deficiency), the role of autophagy in lysosomal storage diseases.