American genome centers to develop rare diseases, Clinical Genomics

13:31
American genome centers to develop rare diseases, Clinical Genomics -

National Institutes of Health

the US government renews its push to move genomics to the clinic. Today, the National Human Genome Research Institute (NHGRI) announced its latest genome sequencing program of 4 years, funded at $ 416 million over 4 years. "Lighthouse" NHGRI sequencing program will extend beyond three centers "to focus more on medical applications," said NHGRI Director Eric Green in a press call today.

The big three are still in the lead: 77% of the money, about $ 319 million, will go to these existing centers. They understand the genome center at the Broad Institute in Cambridge, Massachusetts, led by Eric Lander, which will receive $ 35.9 million in the first year; a center at Washington University in St. Louis, led by Richard Wilson, who received an initial $ 28.4 million; and Baylor College of Medicine in downtown Houston led by Richard Gibbs, who won $ 21.3 million. These centers were beasts of burden in the realization of the human genome project, and now, they will continue to sequence thousands of genomes of people. The centers are also catalog the genetic changes in human tumors in collaboration with the National Cancer Institute.

Despite still cheaper and faster sequencing technologies that now even a small laboratory in the entire sequence of the human genome, there is always a need for large centers to explore the genome biology, test new technologies and find better ways to analyze the data, say the NHGRI officials. "We believe that large scale approaches continue to offer interesting opportunities," said the Deputy Director Mark Guyer NHGRI. However, because sequencing costs continue to decline, subsidies centers will fall by 5% per year.

for the first time, the sequencing program will also fund some smaller centers. Three will hunt underlying mutations rare hereditary disease caused by a problem in a single gene. Labs that will share $ 40 million over 4 years from NHGRI (and another $ 8 million from the National Heart, Lung, and Blood Institute) include: a center $ 5.2 million the year at the University of Washington, directed by Deborah Nickerson and others; a center of $ 2.8 million the year at Yale University, led by Richard Lifton and others; and a common center with $ 4 million per year led by David Valle at Johns Hopkins University and James Lupski of Baylor.

These centers will follow on recent successes with the sequencing of all or part of genomes to track down the origin of genes over 6,000 so-called Mendelian disorders; less than half are known to date. The results will improve diagnosis and eventually lead to new treatments. The centers have the DNA of patients with hundreds of diseases and study "as many problems as possible," according to the technologies and how many samples they can meet, said NHGRI Director Lu Wang Mendelian center program .

another $ 40 million will go for five teams, including scientists, physicians, ethicists and multidisciplinary patient to explore using genome sequencing as part of routine medical care. They will examine issues such as how to add genomic health records, and when tell patients about genomic unexpected results are not related to the disease they are being treated for. and about not yet allocated $ 20 million will finance software to manage the genome data deluge.

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