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Washington U. to Offer Free Exome Sequencing for Rare Diseases

NEW YORK (GenomeWeb News) – Washington University School of Medicine in St. Louis plans to provide free exome sequencing for 99 patients suffering from rare disorders in an effort to discover genetic factors that may be causing these diseases, the school said Wednesday.

The Rare99X Clinical Exome Challenge project, to be conducted by the university's Genomics and Pathology Services program, will work with patient groups to study patients with some of the nearly 7,000 rare diseases that affect an estimated 25 million Americans.

A number of rare diseases may be caused by variations in the exome, and exome sequencing has helped researchers identify genetic causes for 39 rare diseases, WUSTL said.

"The genomics revolution provides many of the tools that may unlock the secrets of rare diseases," Jimmy Lin, a WUSTL research instructor in pathology and immunology, said in a statement.

Lin also is founder of the Rare Genomics Institute, a nonprofit organization that designs personalized research projects for rare disease patients.

The institute is now preparing online training sessions and other activities to help patient advocacy groups create proposals for the exome sequencing program.

The Rare99X group began accepting proposals for the exome sequencing projects on Wednesday, international Rare Disease Day, and the final projects will be chosen sometime this summer.

"Exome sequencing can help identify genetic differences that affect the chances that a treatment will succeed or fail," Karen Seibert, director of the GPS and a research professor of pathology and immunology at WUSTL, said. "The information from clinical genetic tests are expected to play an important role in the characterization of an individual's disease — the first step in identifying approaches to successful treatment."

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