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NHGRI To Fund Exome Sequencing of Mendelian Disorders Under Global Rare Disease Consortium

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The National Human Genome Research Institute is providing $40 million to fund exome sequencing of patients with Mendelian diseases as part of a larger international effort to eventually understand the genetic basis of all rare diseases.

Last week, the International Rare Disease Consortium met in Bethesda, Md., to discuss a framework for its larger goal of developing diagnostics for all 6,000 to 8,000 known rare diseases and to develop therapies for 200 of those diseases by 2020.

The consortium is driven in large part by the European Commission and the US National Institutes of Health. As part of NIH's involvement, NHGRI will support exome sequencing of Mendelian disease under a previously announced program that will fund two centers for a total of $40 million over four years (IS 12/21/2010).

Jane Peterson, associate director of the division of extramural research at NHGRI, told Clinical Sequencing News that the exome sequencing funding will be awarded in either November or December and that the request for applications called for the sequencing of "as many Mendelian diseases as possible," given the time frame and resources.

Additionally, under the grant, the researchers will be required to create a "public list" of patient samples, to better facilitate research of the diseases.

Identifying the molecular basis of Mendelian disease is just a first step toward the consortium's larger goal to eventually impact diagnosis and treatment of all rare diseases.

"We are very interested in making sure we're connected with [the consortium]," Peterson said.

Stephen Groft, director of the NIH Office of Rare Diseases, added that the consortium is in the process of identifying partners and developing policies and procedures for the larger project.

Aside from the NIH and the EC, other partners that have been participating in the meetings include offices from the US Food and Drug Administration, patient advocacy groups, academic researchers, and pharmaceutical companies such as Pfizer, Vertex, Novartis, Genzyme, and Orphan Europe, among others, Groft said.

Groft said that the project is still in its very early stages, and that members of the consortium were still designing the framework for the various components of the project, which, aside from the sequencing of patients, would include data management, the identification of patients, research sharing, and collecting biospecimens.

However, he said that one thing that everyone involved has agreed on is that results should be shared with the patients.

"There is a need for the patients to be informed as quickly as possible … that has been identified by both the patients' families and the clinical researchers," he said.

Groft added that the consortium plans to meet again in October during the American Society of Human Genetics meeting in Montreal.

While representatives from the EC were unavailable for comment for CSN, sister publication BioArray News reported this week that the EC plans to launch in July a €100 million ($140 million) call for research proposals and that areas that could receive funding may include the sequencing of patients, as well as the validation of biomarkers and models of rare disease, and preclinical and clinical development.

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