Using
Genomics to Study Human Biology and Disease
The Human Genome Project culminated in April 2003 with
the finished DNA sequence of all of the human chromosomes. This book of
information, particularly in conjunction with the genome sequences of many
other organisms, has already begun to revolutionize the way that biomedical
scientists study our species. The
identification of essentially all of our genes has provided a template upon
which researchers can discover basic processes that govern cells, organs, and
the whole organism, and to understand the fundamental causes of the diseases
that occur when something goes wrong with a gene or a set of genes. The Genome Project has already made it
possible to identify the genes that are defective in more than 1,000 rare
inherited diseases, and these discoveries have helped to understand the
mechanisms of the more common forms of these disorders. This understanding of primary defects in
diseases – which is translated as mutations in genes that encode proteins that
serve specific functions – is transforming the way that biotechnology and
pharmaceutical companies identify drug targets, and a few notable cases have
already had a striking impact on specific diseases. In addition, it has become clear that the differential response
to drugs in human populations is heavily influenced by genes, and a whole field
called pharmacogenetics has begun to identify these genetic factors. Such knowledge will allow physicians to
prescribe drugs targeted to each individual, with the potential to increase
efficacy and decrease side-effects. Determining the DNA sequence of the human
genome and identifying the genes has been an exciting endeavor, but we are only
just beginning to understand the treasures present in all of our DNA. My presentation will briefly describe the
road we took to get the sequence, as well as the tools that we are developing
to unlock its secrets.