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Children's National Health System to Collaborate with the Regeneron Genetics Center in a Large-Scale Whole Exome Sequencing Research Study of Undiagnosed Diseases

Washington, DC - Children's National Health System announces the launch of a major three-year research study of undiagnosed diseases in partnership with the Regeneron Genetics Center (RGC, a subsidiary of Regeneron Pharmaceuticals, Inc.). The research study will enroll thousands of appropriately consented pediatric patients and their families, and has the goal of investigating potential links between an individual’s disease and his or her genetic profile. The RGC will conduct whole exome sequencing, which looks at all the protein-coding DNA in a genome, for patients in the study.

"Many rare and undiagnosed diseases have genetic causes and whole exome testing may increase the chances of finding hereditary disease," said Marshall Summar, MD, Chief of Genetics and Metabolism at Children's National Health System. "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. We believe advances in genomic medicine will enable discoveries that provide answers to more families."

This program will be directed by Carlos Ferreira, MD, a Children's National geneticist, and coordinated by Lindsay Kehoe, a genetic counselor at the hospital. Children's National hopes to include up to 3,000 patients in the study's first year and greater numbers in the following two years.

In the study, the RGC will conduct whole exome sequencing, and RGC scientists and Children's National geneticists will analyze the results. Children's National scientists and providers will screen for certain findings that are known to be potentially causative or diagnostic of disease and will confirm those preliminary research findings in a lab facility that is certified for Clinical Laboratory Improvement Amendments (CLIA), the federal standards for clinical testing. Qualified members of the Children's National genetics team will review the results of any confirmatory CLIA-certified testing with patient families, and may refer patients to appropriate clinicians at Children’s National for care.

This information may provide some families with medical answers and lead to patients receiving treatment that is appropriate for their genetic condition. According to Dr. Summar, pediatric diseases that elude diagnosis can have many detrimental effects for patients and families such as treatment delays, multiple tests that are time- and cost-intensive, and stress from ongoing uncertainty about the illness. 

Regeneron will utilize the genomic data in its efforts to improve drug development. Since opening in 2014, the RGC has established collaborations with leading academic, government and integrated medical systems in order to pursue research that validates associations between genes and human disease and identifies potential new drug targets.  

“The Regeneron Genetics Center is utilizing human genetics data to speed the discovery and development of new and improved medicines for patients in need,” said Aris Baras, MD, Vice President and Co-Head of the Regeneron Genetics Center. “Partnering with dedicated organizations like Children’s National and Dr. Summar’s world-renowned team helps us achieve this long term mission and at the same time enables our partners to enhance patient care through the implementation of genomic medicine.”

"Regeneron's capabilities in ultra high-throughput DNA sequencing and genomics research and our team's diagnostic and therapeutic expertise is a strong combination," said Dr. Summar.

"This collaboration provides multiple benefits, and we at Children’s National have an opportunity to help patients by utilizing testing and expertise that is not otherwise readily available."

With the nation's largest Pediatric Genetics and Metabolism program, the multi-disciplinary team at Children's National is widely recognized for its expertise in rare and undiagnosed diseases, seeing more than 8,000 patients annually from all over the world. For more information about the Children's National Health System undiagnosed disease study, contact [email protected].