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: Refining the language for chromosomes

add to favorites email to friend print save as pdf

Related Stories

Gene removal could have implications beyond plant science

Apr 16, 2014

(Phys.org) —For thousands of years humans have been tinkering with plant genetics, even when they didn't realize that is what they were doing, in an effort to make stronger, healthier crops that endured climates better, ...

Aging research goes to the dogs

Apr 15, 2014

From ancient alchemical quests to modern biological research, efforts to understand and combat human aging have borne few fruits. Now Cornell scientists aim to bridge the gap between lab research and aging's ...

First peanut genome sequenced

Apr 02, 2014

The International Peanut Genome Initiative—a group of multinational crop geneticists who have been working in tandem for the last several years—has successfully sequenced the peanut's genome.

Recommended for you

Refining the language for chromosomes

1 hour ago

When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in ...

Down's chromosome cause genome-wide disruption

21 hours ago

The extra copy of Chromosome 21 that causes Down's syndrome throws a spanner into the workings of all the other chromosomes as well, said a study published Wednesday that surprised its authors.

Research uncovers DNA looping damage tied to HPV cancer

Apr 16, 2014

It's long been known that certain strains of human papillomavirus (HPV) cause cancer. Now, researchers at The Ohio State University have determined a new way that HPV might spark cancer development – by ...

User comments : 0

More news stories

Turning off depression in the brain

Scientists have traced vulnerability to depression-like behaviors in mice to out-of-balance electrical activity inside neurons of the brain's reward circuit and experimentally reversed it – but there's ...

Spate of Mideast virus infections raises concerns

A recent spate of infections from a frequently deadly Middle East virus is raising new worries about efforts to contain the illness, with infectious disease experts urging greater vigilance in combatting ...

Clean air: Fewer sources for self-cleaning

Up to now, HONO, also known as nitrous acid, was considered one of the most important sources of hydroxyl radicals (OH), which are regarded as the detergent of the atmosphere, allowing the air to clean itself. ...

Thinnest feasible nano-membrane produced

A new nano-membrane made out of the 'super material' graphene is extremely light and breathable. Not only can this open the door to a new generation of functional waterproof clothing, but also to ultra-rapid filtration. The ...

There's something ancient in the icebox

Glaciers are commonly thought to work like a belt sander. As they move over the land they scrape off everything—vegetation, soil, and even the top layer of bedrock. So scientists were greatly surprised ...