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1st
EMBL/EMBO Joint Conference 2000 |
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Session
II |
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| From the sequence of our genes to medical utility |
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Andrea Ballabio, Professor, Genetics, Director, Telethon Institute of Genetics and Medicine, Naples, Italy
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.
Biography
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 FĀdĀratif 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]. |
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