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NHBLI Seeks Mendelian Disease Projects for Exome Sequencing


The US National Heart, Lung, and Blood Institute is looking for researchers who want to discover the genetic basis of certain Mendelian or monogenic disorders through exome sequencing, according to a solicitation posted last week.

The institute invites applicants to use the exome sequencing capacity of the Mendelian Disorders Genome Centers to investigate the genetic basis of Mendelian or monogenic disorders that "significantly affect heart, lung, and blood … systems."

Under the program, NHLBI intends to select 15 projects each year between 2012 and 2014, each sponsored for a maximum period of four years, who will be able to use the genome centers. There are no funds associated with the awards.

The location of the Mendelian Disorders Genome Centers has yet to be determined — the National Human Genome Research Institute plans to fund two centers with $10 million later this year (IS 12/21/2010).

More than 400 suspected Mendelian diseases that are related to heart, lung, blood, and sleep do not have a known genetic basis, according to the solicitation. Understanding their causes may help reveal the biological basis of related common diseases, and "exome sequencing technology has proven to be an efficient and cost-effective way to identify causative mutations in monogenic diseases."

Projects to be supported must have existing DNA sample collections from patients, must "show promise for identification of causal genetic variants using exome-sequencing technology," and must have sufficient power to be likely to detect genetic mutations causing the disease.

Besides Mendelian diseases, the program "also provides an opportunity to discover de novo mutations and identify the causes of some hard-to-diagnose rare diseases."

Letters of intent for the first round are due Sept. 19, and applications are due Oct. 18. More information is available here.

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