Andrea Ballabio

Andrea Ballabio, M.D., (born Naples, Italy, January 27, 1957) is an Italian scientist and academic professor. He is director of the Telethon Institute of Genetics and Medicine (TIGEM) of Pozzuoli; Professor of Medical Genetics at the Federico II University of Naples and Visiting Professor of Genetics at Baylor College of Medicine in Houston, Texas, USA and at the University of Oxford-UK.

Early life and education

After graduating in medicine and specializing in pediatrics at the Federico II University in Naples, Italy he spent many years abroad, first in England and then in the United States, where he became associate professor at the Department of Molecular and Human Genetics, Baylor College of Medicine and co-director of Baylor Human Genome Center in Houston, Texas. In 1994 he returned to Italy where he founded TIGEM, of which he is the Scientific Director. TIGEM is a research centre of excellence in Italy, with about 220 researchers from all over the world. Along with his team of researchers, he has identified genetic mutations responsible for many rare genetic diseases. His discovery of the TFEB gene, which controls the functioning of lysosomes, has had a major impact on cellular biology and neurodegenerative diseases..

Career

At the beginning of his research career, he focused his attention on gene-disease identification including: the Kallmann syndrome gene (involved in axonal orientation), the OA1 gene (which deals with melanosomes biogenesis and is mutated in ocular albinism), the paraplegine gene (which is involved in mitochondrial biology and mutated in hereditary spastic paraplegia), the MID1 gene (which is involved in the development of the median line and mutated in the GBB Opitz syndrome). He then focused on identifying the mechanisms underlying rare genetic diseases, particularly regarding lysosomal storage disorders (LSD). In this context, he made the discovery of the multiple sulfate deficiency (MSD), in which all members of the sulphatase family (17 in humans) are deficient due to a defect in post-translational modification. Using an innovative approach, he identified the SUMF1 (Modification Factor 1 sulphatase) gene, which is responsible for this post-translational modification and is mutated in MSD patients. It has also been shown that SUMF1 overexpressing significantly increases the activity of exogenous sulphatase in both cell culture and in vivo cultures. This discovery had immediate clinical application: the SUMF1 gene is currently in use in the production of sulphatase as a tool to improve sulphatase activity for enzymatic replacement therapy. More recently he focused his attention on lysosomes, the organelles that are responsible for cellular waste degradation. Challenging the conventional knowledge of cellular biology, he hypothesized that lysosome was a dynamic structure that is subject to global transcriptional regulation and able to adapt to environmental stimuli. Together with his team, he discovered that lysosomal, autophagy, and exocytotic biosynthesis are transcriptionally regulated by a gene network and controlled by the TFEB master gene, that promote cellular clearance. This mechanism has been tested in various disease models including: Parkinson's, Alzheimer's, Huntington's disease, lysosomal starage disorders, the α1-anti-trypsin deficiency and the bulbous spinal muscular atrophy. This discovery has opened up new possible therapeutic strategies based on the possibility of globally modulating lysosomal function by acting on TFEB gene network.

Awards

He published 316 articles in international scientific journals (Impact Factor Total 2,778,301, with an average Impact Factor of 9,128 per item) and contributed to 19 chapters of prestigious international books such as Harrison's Principles of Internal Medicine and Molecular Bases of Inherited Disease. In total, his publications have been quoted more than> 30,959 times (given in November 2016, Google Scholar "h" index: 87). Over the last 10 years he has been invited as speaker to more than 100 international and national conferences. He has mentored many undergraduate and doctoral students. He is inventor of 7 international patents. He is a counselor at many committees of international bodies for evaluating research projects including the European Commission and the Canadian Genome Project. He is also a member of the editorial committees of numerous international scientific journals and major international scientific societies such as the European Molecular Biology Organization, the European Society of Human Genetics, the American Society of Human Genetics and many others.

Some important awards:

In 1998 he was President of the European Society of Human Genetics.

In 2007 he was awarded the title of Commendatore della Repubblica Italiana by President Giorgio Napolitano who also awarded him the silver medal for merit .

In 2010 and 2016 he was the winner of the European Research Council (ERC)'s Advanced Grant, which recognized the best European scientists .

In 2016 he was the first in Italy to win the prestigious Louis-Jeantet Award for Medicine for his contribution to understanding the molecular mechanisms controlling the function of lysosomes in health and disease.