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Database Enables Documentation of Rare Genetic Disorders

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A new online database developed by Johns Hopkins University in Baltimore and Baylor College of Medicine in Houston will make it possible for researchers and clinicans to collect data on diseases caused by single faulty genes. The database, known as PhenoDB is described in a recent online issue of the journal Human Mutation.

PhenoDB is a project of the Centers for Mendelian Genomics, a consortium of Johns Hopkins and Baylor College of Medicine, with Yale University and University of Washington. Mendelian disorders are caused by changes in single genes and inherited in the manner described by 19th century Austrian monk Gregor Mendel. These conditions include the well-known disorders cystic fibrosis and muscular dystrophy, but also about 5,000 diseases that in some cases are so rare they are experienced by only a few dozen families.

The database captures phenotypes in a standardized format to describe genetic sequencing information, symptoms, and family history data. Johns Hopkins genetics professor Ada Hamosh, the paper’s lead author, says some 3,000 inherited disorders have been described phenotypically in scientific papers, but whose genetic causes have not yet been pinpointed. Harmosh adds that many other rare single-gene disorders may have not yet made it into the literature.

The Centers for Mendelian Genomics has the ability to conduct whole-exome sequencing that can analyze 90 percent of a person’s genes at one time, rather than guessing at possible genetic defects and testing individually for those defects. To adequately analyze this mass of data however, says Hamosh, the lab “needs to have the whole phenotype, from head to toe.” Without phentypes, Hamosh adds, “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.”

PhenoDB is expected to aid researchers seeking to match genomic information with its phenotypic effects. The Centers for Mendelian Genomics makes available free, downloadable companion software to the database for this purpose. Hamosh predicts software of this kind will be added to electronic health systems so doctors “have patients’ genomic information at their fingertips and can combine that with information about health history, disease symptoms, and social situation to practice truly individualized medicine.”

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