October 01, 2011

Clinical Exome Challenge

To celebrate World Rare Disease Day 2012, the Genomics and Pathology Services at Washington University School of Medicine (GPS@WUSTL) and Rare Genomics Institute (RGI) announce the Rare99X Clinical Exome Challenge, an initiative that will enable access to cutting-edge clinical genomic testing for rare diseases. A total of 99 whole exomes, the complete sequence of the genes that instruct cells how to build proteins, will be awarded to patient advocacy groups in support of rare disease research and diagnosis. This project provides an extraordinary opportunity for patient advocacy groups to gather extensive and valuable clinical genetic information free of charge through exome testing in GPS's clinical laboratories.

Whole exome sequencing unlocks a patient’s personal genetic code for the majority of the over 20,000 genes in the human genome. For patients with poorly understood genetic diseases, the technology is uniquely capable of uncovering the genetic basis of disease, which may aid diagnosis, provide prognostic information, and guide therapy currently unavailable to such patients.

Patient advocacy groups are invited to submit letters of interest for review. Full proposals will be requested from groups with meritorious letters, and a total of 99 exome sequences will be awarded to the top submissions. All clinical exome sequencing will be performed in GPS@WUSTL’s CAP accredited, CLIA certified clinical laboratories, and a clinical interpretation report will be issued to the responsible physician for each patient sequenced, if warranted.

GPS thanks Agilent Technologies for the contribution of reagents for this initiative. Thanks also to marketing partner 2e Creative for donating their services to help spread the word about the Rare99X Clinical Exome Challenge.

To learn more about the Rare99X Clinical Exome Challenge:
Website: Rare99X Clinical Exome Challenge site
Press Release: Rare99X Clinical Exome Challege Press Release
Contact us: rare99@path.wustl.edu