Regeneron, Children’s National Partner on Rare Diseases

(Gerd Altmann, Pixabay)

29 November 2016. Regeneron Genetics Center and Children’s National Health System have begun studying thousands of genetic profiles to better understand the causes of rare and undiagnosed disorders. Financial aspects of the 3-year collaboration were not revealed.

Children’s National Health System, in Washington, D.C., is both a children’s hospital and research institute, which has a program for pediatric genetics and metabolism that investigates complex birth defects, as well as genetic and metabolic diseases in children. The institution says it receives some 8,500 visits annually related to genetics.

Regeneron Genetics Center is a subsidiary of the biotechnology company Regeneron in Tarrytown, New York that applies high-throughput genomic sequencing to discovery of new treatments. The center sequences exomes, that cover the exons, or protein coding regions of the human genome. Exomes account for only a small percentage of base pairs in the genome, but they represent about 85 percent of all disease causing mutations. The Regeneron center then matches results of the whole exome sequencing to de-identified medical records, with some 100,000 of those records now stored.

In their project, Children’s National specialists will analyze the exome sequencing results from 3,000 patients in the first year, with more participants planned in the second and third years. The Children’s National specialists will screen the findings for genetic factors related to known diseases, which can be confirmed in the institution’s medical labs, then shared with patients’ families and physicians.

“Many rare and undiagnosed diseases have genetic causes,” says Marshall Summar, chief of genetics and metabolism in a Children’s National statement, “and whole exome testing may increase the chances of finding hereditary disease. Through this collaboration, we hope to contribute to major advances in the diagnosis and management of rare disease, as well as the development of new therapies.”

For patients taking part in the project and their families, the exome sequencing can provide new treatment options, which up to now may have eluded conventional diagnostics. Summar notes that when pediatric diseases are not diagnosed, patients and families can face negative outcomes, such as delays in treatment, and many more medical tests that are time- and cost-intensive, as well as added stress.

Regeneron expects the collaboration will aid the company’s discovery of new therapies, as well as validate its current drug programs and better design clinical trials. The company began Regeneron Genetics Center in January 2014, which now collaborates with a number of health care systems, university medical centers, and NIH’s program for undiagnosed diseases.

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