CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

CAG operates the world's largest pediatric biorepository, one of the largest genome-research centers in academia, and arguably more experience analyzing diagnosing rare/Mendelian than any other site in the world. We are home to 12,000 rare disease patients, and CHOP is a healthcare provider for fully 10% of children in the United States with a rare disease. A major emphasis for CAG has been resolving previously unresolved diseases.

We have an established CLIA lab and team, and long-standing expertise in genome discovery in rare diseases. ,This has driven our rare disease discovery program, yielding discoveries in more than 40 diseases to date.

These discoveries are driven by a nuanced understanding of the most problematic regions of the genome – problematic exons, structural variations, and 'negative' exomes. Aligning our analysis group—21 PhD- and 6 MD-level full time researchers (see, including 17 dedicated Analysts with the innovative application of GSA Array and 10x long-read technology, we are uniquely powered to resolve even the most complex rare disesases. However, among the most innovative nature of CAG is the biobank itself that stores, blood, DNA, RNA, cells, plasma and serum from over 100,000 children that allows for any variant of interest to be followed up (including through generation of iPS cells and any tissue type differentiation) through translational research. We have nearly 90% recontact permission with our patients and their families which allows for follow up on any phenotyping matter, familial segregation or environmental interactions.