Andrea Ballabio, M.D., Ph.D.
Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
Professor of Medical Genetics, Department of Pediatrics, University of Naples "Federico II"
Scientific Director, TIGEM (Telethon Institute of Genetics and Medicine), Naples, Italy
Research focus: Lysosomal storage disorders; Batten disease (juvenile neuronal ceroid lipofuscinoses)
Dr. Ballabio's impact on human genetics research began with his discoveries of X-linked disease genes. His contributions have spanned an enormous range of human diseases and biological processes, from X-inactivation (XIST), axonal targeting (Kallmann syndrome), and melanosome biogenesis (ocular albinism) to mitochondrial biogenesis (hereditary spastic paraplegia), post-translational protein modification (multiple sulfatase deficiency), and the role of autophagy in lysosomal storage diseases to name a few. He led a large international project, EurExpress, to build an expression atlas for all murine genes. The Ballabio lab has identified many genes and pathogenetic mechanisms that have led to a number of successful therapeutic tests in animal models, which are now moving to preclinical trials. The lab's discovery of the SUMF1 gene, for example, had a direct impact on the production of active sulfatases for enzyme replacement therapy.
Most recently the Ballabio group, located in TIGEM in Italy, discovered a gene network named CLEAR, which regulates lysosomal function and cellular clearance. The master gene that governs this network is TFEB. This discovery could benefit not only young patients with lysosomal disorders, but also the aging population, as lysosomal dysfunction contributes to the neurodegeneration caused by Alzheimer’s, Parkinson’s and several other diseases in which unrecycled proteins build up within the cell. To develop methods to successfully manipulate the CLEAR network in any of these diseases, Dr. Ballabio, Dr. Sardiello and the NRI have undertaken a cross-institutional collaboration to understand the cascade of events that leads from lysosomal dysfunction to disease phenotype. Such understanding requires close cooperation between physicians and scientists from different disciplines to untangle the fundamental biological processes, their effects at the level of the whole organism and their underlying molecular mechanisms.
Intracerebral administration of AAV rh.10 carrying human SGSH and SUMF1 cDNAs in children with MPSIIIA disease: results of a phase I/II trial.
Tardieu M, Zerah M, Husson B, de Bournonville S, Deiva K, Adamsbaum C, Vincent F, Hocquemiller M, Broissand C, Furlan V, Ballabio A, Fraldi A, Crystal R, Baugnon T, Roujeau T, Heard JM, Danos O