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EMBL/EMBO Joint Conference 2000

Andrea Ballabio, Telethon Institute of Genetics and Medicine, Naples, Italy


Until January 1, 1995, Andrea Ballabio was Co-director of the Human Genome Center and Associate Professor at Baylor College of Medicine, Houston, Texas. He is currently Professor of Genetics at the Second University of Naples and Director of the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, Italy. His primary research interests are disease gene identification, unravelling the molecular and metabolic bases of inherited disease and genomic research.

Prof. Ballabio has authored over 160 publications in international peer-reviewed journals. He serves on the editorial board of various international scientific journals and has participated in numerous advisory boards including: EC BIOMED2 Human Genome Research Committee (chair), Ingenium Pharmaceuticals Scientific Advisory Board, The External Advisory Board for New Research Initiatives of the University of Antwerp, Belgium; German Human Genome Project, The Vision of Children, l'Institut Fâdâratif de Recherche des Enfants Malades (IFREM), The Commission for Post-Genome Research of the Italian Ministry for Research (MURST).

His membership to several scientific societies numbers among: HUGO, European Society of Human Genetics (ESHG President 1998-1999), American Society of Human Genetics and European Molecular Biology Organization (EMBO).


From the sequence of our genes to medical utility

We are rapidly approaching the time when the sequence of the entire human genome will be available. There is no question that this unprecedented conquest of human knowledge will have a tremendous impact on human health. But how can we transform the structural knowledge of genes into medical utility? And how can we do it in a systematic way for thousands of genes and proteins? These are the major challenges of today's biomedical research.

Two main pathways will likely be followed. The first pathway includes the systematic functional analysis of human genes. This strategy, also known as functional genomics, utilizes a variety of approaches such as bioinformatic analysis of gene families, cross-species sequence comparisons, and systematic characterization of gene expression patterns and protein profiles. These methods provide important, albeit sometimes superficial, information on the function of human genes, which can be instrumental in the process of disease gene identification. Furthermore, the systematic generation and characterization of mutant animals provides an important tool to understand the function of a given gene and to predict the phenotypic consequences of gene dysfunction.

The second pathway to be followed involves the characterization of the human genome sequence with respect to its diversity among individuals. The first draft of the entire human genome sequence, due to be released in April this year, has been obtained from the DNAof several donor individuals and will represent only a "reference" genome. However, each of us has a genome which is, on the average, 0.1% different from that of another individual. Most importantly, hidden in these minute differences are not only the phenotypic characters that make us each unique but also the genetic factors causing or predisposing us to diseases. Identifying these mutations and linking them to human diseases is of pivotal importance, as this will lead to the design of effective molecular tests allowing the prevention of genetic diseases.