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

The International Rare Disease Consortium's goal is to develop diagnostics for all 6,000 to 8,000 known rare diseases and develop therapies for 200 of those by 2020. As part of the project, NHGRI will support exome sequencing of Mendelian diseases under a previously announced program that will fund two centers for a total of $40 million over four years.