Johns Hopkins to participate in 1000 Genomes Project

Jan 22, 2008

Researchers at the McKusick-Nathans Institute of Genetic Medicine (IGM) 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,” says Aravinda Chakravarti, Ph.D., professor of medicine, pediatrics and molecular biology and genetics at Hopkins and a member of the IGM. “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 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.

“This new project will increase the sensitivity of disease discovery efforts across the genome fivefold and within gene regions at least tenfold,” said Francis S. Collins, M.D., Ph.D., director of the National Human Genome Research Institute. “By harnessing the power of new sequencing technologies and novel computational methods, we hope to give biomedical researchers a genome-wide 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,” says Chakravarti. “The new catalog of gene variants will follow up our genome-wide 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.

Source: Johns Hopkins Medical Institutions

Explore further: Project pinpoints 12 new genetic causes of developmental disorders

add to favorites email to friend print save as pdf

Related Stories

Big data and the science of the Christmas tree

Dec 18, 2014

Often called the "Cadillac of Christmas trees," the Fraser Fir has everything a good Christmas tree should have: an even triangular shape, a sweet piney fragrance, and soft needles that (mostly) stay attached ...

Recommended for you

Obese British man in court fight for surgery

Jul 11, 2011

A British man weighing 22 stone (139 kilograms, 306 pounds) launched a court appeal Monday against a decision to refuse him state-funded obesity surgery because he is not fat enough.

2008 crisis spurred rise in suicides in Europe

Jul 08, 2011

The financial crisis that began to hit Europe in mid-2008 reversed a steady, years-long fall in suicides among people of working age, according to a letter published on Friday by The Lancet.

New food labels dished up to keep Europe healthy

Jul 06, 2011

A groundbreaking deal on compulsory new food labels Wednesday is set to give Europeans clear information on the nutritional and energy content of products, as well as country of origin.

Overweight men have poorer sperm count

Jul 04, 2011

Overweight or obese men, like their female counterparts, have a lower chance of becoming a parent, according to a comparison of sperm quality presented at a European fertility meeting Monday.

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.