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New Database Speeds Search for Diseases Caused by a Single Rogue Gene

Geneticists at Johns Hopkins are harnessing vast amounts of data to sort “normal” genetic variations from those that cause disease. In one recent study, a team of hundreds of scientists worldwide collected blood samples from more than 1000 healthy people and sequenced their genomes. They found that the average person carries a surprising number of harmful-seeming mutations that in fact never have a deleterious impact. In another initiative headed by Johns Hopkins and Baylor, researchers are collecting and analyzing information on patients with rare diseases in order to pinpoint their genetic culprits.

New Database to Speed Genetic Discoveries

1,092 Human Genomes Sequenced

Funding: The Baylor-Hopkins Center for Mendelian Genomics is funded by the National Human Genome Research Institute (grant number 1U54HG006542).