Researchers at the
McKusick-Nathans Institute of Genetic Medicine at Johns
Hopkins will join
other national and international scientists in the 1000
Genomes Project, an ambitious effort that will
involve sequencing the genomes of numerous people from
around the world to create the most detailed
and medically useful picture to date of human genetic
variation.
"We have made considerable headway in creating a map
of common DNA variation in humans, the
HapMap Project, and applied it with great success toward
understanding many common diseases," said
Aravinda Chakravarti, professor of
medicine,
pediatrics and
molecular biology and genetics at Johns
Hopkins and a member of the
Institute of Genetic Medicine. "It is apparent that
more detailed maps
will speed up disease gene discovery for the many illnesses
we still fail to understand. It's crucial to
complete the catalog of common variation in DNA, the small
fraction of genetic material that varies
among people and leads to differences in susceptibility to
disease, drug response or reaction to
environmental factors, and the 1000 Genomes Project will
home in on these differences."
By sequencing the genomes of at least 1,000 people,
the project will produce a catalog of
genetic variants that are present at 1 percent or greater
frequency in the human population across
most of the genome. The 1000 Genomes Project builds on the
human haplotype map — a map of genetic
variants — developed by the International HapMap
Project. The HapMap already has helped
researchers discover more than 100 regions of the genome
containing genetic variants associated with
risk of common human diseases, such as diabetes,
age-related macular degeneration, prostate and
breast cancer, and coronary artery disease, including work
at Johns Hopkins on sudden cardiac death.
The new map will give researchers important clues to
which genetic variants might be causal,
including more precise information on where to search for
causal variants.
Francis S. Collins, director of the National Human
Genome Research Institute, said, "This new
project will increase the sensitivity of disease discovery
efforts across the genome fivefold and
within gene regions, at least 10-fold. By harnessing the
power of new sequencing technologies and
novel computational methods, we hope to give biomedical
researchers a genomewide map of variation
down to the 1 percent level. This will change the way we
carry out studies of genetic disease."
"Most common diseases, such as diabetes and heart
disease, are influenced by many common
genetic variants, each with a weak effect — but
cumulatively, a strong effect — on risk," Chakravarti
said. "The new catalog of gene variants will follow up our
genomewide disease hunts so that we can
read off almost all the variants in that region and pursue
functional studies to nail down the direct
contributors to disease."
As with other major human genome reference projects,
data from the 1000 Genomes Project
will be made swiftly available to the worldwide scientific
community through freely accessible public
databases.
The detailed map of human genetic variation will be
used by many researchers seeking to relate
genetic variation to particular diseases. In turn, such
research will lay the groundwork for the
personal genomics era of medicine, in which people
routinely will have their genomes sequenced to
predict their individual risks of disease and response to
drugs.
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