Andrea Ballabio was born in Naples, Italy on January 27th, 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 Director of the Biology For Medicine (BioForMe) foundation and Full Professor of Medical Genetics at the Faculty of Medicine of the University of Naples “Federico II”Â. Prof. 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. Among his recent discoveries is the identification of a gene network regulating cellular clearance (Sardiello et al., Science, 2009). He has published approximately 250 papers in prestigious, international scientific journals. Prof. Ballabio was the President of the European Society of Human Genetics and is a Council member of the European Molecular Biology Organization (EMBO). He has received numerous national and international awards for research and culture, among which the 2007 International Award of the European Society of Human Genetics. In 2007 he was appointed “Commendatore of the Italian Republic”Â by the President of Italy Giorgio Napolitano.
Learning Biology from the study of Genetic Diseases.
Andrea Ballabio, Telethon Institute of Genetics and Medicine (TIGEM) and Department of Pediatrics, Federico II University, Naples, Italy
More than 6000 human genetic diseases are caused by a mutation in a single gene resulting in a disorder that can be inherited through generations. Furthermore, genetic predisposition plays a major role in a growing group of common human diseases. Understanding the complex series of events leading from a gene mutation (genotype) to disease symptoms (phenotype) is both a challenging and an important task, as it may lead to the identification of novel therapeutic strategies for genetic diseases. In some fortunate cases, studying genetic diseases may lead to the identification of a novel basic biological mechanism, which may have a wide impact in biology and medicine. A recent discovery, made in our laboratory (Sardiello et al. Science, June 26, 2009), of a gene network regulating cellular clearance may represent one of such cases. All cells of the human body have a clearance and recycling system by which the byproducts of cellular metabolism are degraded and reutilized. This system relies on intracellular organelles, named lysosomes —the structures that provide a garbage disposal service to the cell— in which degradation processes occur. The efficiency of this system is of crucial importance for a correct cellular function in order to avoid pathological consequences of the accumulation of toxic molecules. Neurodegenerative disorders such as Alzheimer’s, Parkinson’s and Huntington’s diseases, as well as Lysosomal Storage Disorders, are due to the accumulation of undegraded toxic molecules. We discovered a genetic program that regulates the efficiency of cellular clearance. We identified a “master” gene that acts as a “genetic switch” to turn on genes encoding degradation enzymes. By enhancing the function of this master gene we were able to increase the clearance capacity of the cell and its ability to degrade toxic proteins such as that causing Huntington’s disease. This discovery may have important applications for the therapy of neurodegenerative diseases.