Study: New database speeds disease research

An online database developed by researchers at Johns Hopkins University School of Medicine and the Baylor College of Medicine that uses both genetic sequencing and family history information to enable faster research of diseases caused by a single rogue gene, according to a study published online this month in the journal Human Mutation. The study helps to establish the database--PhenoDB--as a legitimate resource for in-depth patient analysis.

"PhenoDB is a robust, useful database for collection, storage, and analysis of phenotypic data, especially in the context of whole exome/genome sequencing approaches to identify the responsible gene and variant," the study's authors said. "The utility of PhenoDB … is likely to benefit any laboratory undertaking clinically relevant whole exome/genome sequencing."

Ada Hamosh, M.D., a professor in the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine who helped develop the database as part of the Baylor-Hopkins Center for Mendelian Genomics, called the tool "more useful" than even she envisioned it would be.

"Bringing all of this information together is crucial to figuring out what our genetic variations mean," she said in an announcement.

According to Hamosh, roughly 3,000 inherited disorders exist for which genetic causes have yet to be determined. "The average person has tens of thousands of variations from the standard genetic sequence, and we don't know what most of those variations mean," she said. To that end, she said, the database is useful, as it enables secure access to and collaboration on information geared toward such research.

She added that she thinks similar tools eventually will be incorporated into electronic health records to enable more individualized medicine.

In an exclusive interview with FierceHealthIT prior to speaking at the Healthcare Information and Management Systems Society's annual conference in New Orleans this month, Eric Topol, a professor of genomics at The Scripps Research Institute in San Diego and author of "The Creative Destruction of Medicine: How the Digital Revolution Will Create Better Health Care", talked about the potential for individualized medicine via genome testing.

And earlier this month, we reported on the efforts of an international team of researchers who created a "Google map" of human metabolism--an important step, they said, in understanding the underlying causes of disease. One of its most promising uses of the map, according to the researchers, will be in helping to develop personalized treatments.

To learn more:
- here's the Human Mutation study
- check out the announcement

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