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$50m project will pinpoint the genetic variations that cause disease

An ambitious project to create the most detailed picture of human genetic variation yet has been launched by British and American scientists.

The 1000 Genomes Project will map the tiny fraction of genetic material that differs between people, giving researchers unprecedented insight into why some are more susceptible to disease than others.

Scientists know that any two humans are more than 99% identical at the genetic level. The remaining 1% helps explain many of the differences in people's health.

The $50m map, which is expected to take three years to complete, will be made freely available, allowing scientists to pinpoint the genetic causes of common disorders swiftly and help tailor medical treatments to individual patients.

Researchers will scan the genetic make-up of at least 1,000 people who either live in, or have ancestry tracing back to, Europe, Africa, Japan, China, India and Mexico. From the results, scientists will create a detailed catalogue of common and rare genetic variants, some of which are found in as few as 1% of the population.

Unthinkable project

"Such a project would have been unthinkable only two years ago," said Dr Richard Durbin Richard Joseph "Dick" Durbin, (born November 21 1944) is currently the senior United States Senator from Illinois and Democratic Whip, the second highest position in the party leadership in the Senate. , a geneticist ge·net·i·cist
A specialist in genetics.


a specialist in genetics.

 at the Wellcome Trust's Sanger Institute The Wellcome Trust Sanger Institute (formerly the Sanger Centre) is a genome research centre in Cambridgeshire, England. It was set up in 1992 by the Wellcome Trust and the Medical Research Council, the purpose of which is stated on their website ([1] as "to further our  in Cambridge who co-chair's the project.

"We are moving forward to building a tool that will greatly expand and further accelerate efforts to find more of the genetic factors involved in human health and disease," he added.

Since the 13-year-long Human Genome The human genome is the genome of Homo sapiens, which is composed of 24 distinct pairs of chromosomes (22 autosomal + X + Y) with a total of approximately 3 billion DNA base pairs containing an estimated 20,000–25,000 genes.  Project was completed in 2003, teams of scientists have strived to look deeper into the 3 billion pairs of letters that form the human book of life.

One team, the HapMap project, has already revealed large-scale genetic variations between populations, which have helped scientists to identify more than 100 regions linked to common medical conditions See carpal tunnel syndrome, computer vision syndrome, dry eyes and deep vein thrombosis.  such as obesity, diabetes, heart disease and cancer.

Scientists look for the genetic causes of disease by comparing genome scans from healthy people with those of sick people. But these studies usually only point to vague regions in the genetic code that may be hundreds of thousands of letters long.

Improved diagnosis

"This project will give scientists a complete map of all the variation in that region, so they'll be able to use it to tease apart Verb 1. tease apart - disentangle and raise the fibers of; "tease wool"
loosen, tease

unsnarl, disentangle, straighten out - extricate from entanglement; "Can you disentangle the cord?"
 what might cause the illness, and that will lead to better diagnosis and better understanding of the disease," said Dr Durbin.

The project will begin this year with three pilot studies. The first will involve an in-depth scan of two families comprising two parents and one child. The second will sequence the genomes of 180 people, while the third will examine 1,000 genes in 1,000 people.

The main project will begin next year, with DNA sequencing DNA sequencing

The determination of the sequence of nucleotides in a sample of DNA.
 machines reading roughly 8.2 billion letters a day - the equivalent of more than two human genomes every 24 hours.

The sequencing will be conducted at five major sites around the world, including the Sanger Centre, the US National Human Genome Research Institute (NHGRI NHGRI National Human Genome Research Institute ) and the Beijing Genomics Institute The Beijing Genomics Institute (BGI) was founded in 1998. It achieved international prominence as a center for sequencing the human genome. BGI completed one percent of the human genome for the Human Genome Project.  in China.

Francis Collins, director of the NHGRI, said: "This new project will increase the sensitivity of disease discovery efforts across the genome fivefold fivefold

1. having five times as many or as much

2. composed of five parts


by five times as many or as much

Adj. 1.
 and within gene regions at least tenfold ... This will change the way we carry out studies of genetic disease."
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Date:Jan 22, 2008
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