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

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.

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