A new online database developed by researchers at Johns Hopkins University School of Medicine meant to help clinicians track and study cases of unusual genetic disorders could prove to be a useful tool in speeding up genomics discoveries.
The database--dubbed PhenoDB--is designed to capture a slew of standardized information about the characteristics of an individual, including personal and family health history, symptoms and appearance. Clinicians document cases of unusual genetic diseases in hopes of them being analyzed by researchers at the Johns Hopkins University School of Medicine or the Baylor College of Medicine in Houston. A review committee then evaluates information submitted to the database and can choose family members for genetic sequencing if the committee agrees that a patient may have a previously unknown genetic disease.
Developed by researchers at Baylor-Hopkins Center for Mendelian Genomics along with colleagues from Yale University and the University of Washington, the database was initially launched to investigate the causal gene for unsolved Mendelian disorders. But researchers say PhenoDB is likely to benefit any laboratory that is doing exome/genome sequencing.
"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," researchers say in a study that appears in Human Mutation.
Researchers say there are an estimated 3,000 inherited disorders whose genetic causes have not yet been determined. Many single-gene disorders are extremely rare, so it's likely that many more have not yet been studied, they say.
Researchers can download the database at phenodb.net/downloads.
- read the press release
- here's the Human Mutation study