SITE VISIT: Window on Disease Genes

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Science  05 Jun 1998:
Vol. 280, Issue 5369, pp. 1499
DOI: 10.1126/science.280.5369.1499a

The Web holds lots of human gene databases, but few put the information in context for researchers, doctors, and students alike. That's the premise behind Online Mendelian Inheritance in Man (OMIM) (, a Web site maintained by the National Center for Biotechnology Information. Senior researcher and site programmer Brandon Brylawski describes it as a “curated database,” in which experts summarize the literature on all known human genes and genetic disorders.

OMIM is an outgrowth of a hard-copy catalog begun in 1966 by Victor McKusick of The Johns Hopkins University, who now edits the Web version along with about 25 colleagues. The site can be searched using key words such as gene name, author, or disease. A query for “cystic fibrosis,” for instance, results in a list of 82 genes. Clicking on a gene brings up the disease's history, the gene's function and location, references, and links to MEDLINE abstracts. McKusick's team adds roughly 50 new genes each month to OMIM, now at over 9300 entries for genes and disorders.

Moyra Smith, a geneticist at the University of California, Irvine, says she uses the site almost daily. Recently, she saw a patient diagnosed with cerebral palsy who had two cousins with palsy—not normally an inherited disease. Using OMIM, Smith found that the boy's symptoms fit Pelizaeus-Merzbacher disease, a genetic syndrome. A MEDLINE link led her to an expert on the disease, and she sent blood samples to him. “I won't say I couldn't have gotten the information without OMIM,” Smith says, “but I got it much more quickly with it.”

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