WASHINGTON, Nov. 29, 2016 /PRNewswire-USNewswire/ -- 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.