NEW YORK (GenomeWeb) – Children's National Health System and Regeneron Genetics Center plan to collaborate on a three-year exome sequencing study of undiagnosed diseases.
Children's National aims to enroll 3,000 pediatric patients with undiagnosed rare diseases and their family members in the study's first year, and additional thousands of patients and their families in each of the following two years. Regeneron will conduct the exome sequencing.
"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," Marshall Summar, chief of genetics and metabolism at Children's National, said in a statement. "We believe advances in genomic medicine will enable discoveries that provide answers to more families."
Carlos Ferreira, a geneticist at Children's National, will direct the study and genetic counselor Lindsay Kehoe will coordinate it. Although it is a research study, diagnostic findings will be confirmed in a CLIA certified laboratory and members of the Children's National team will return results to the patients and their families.
Regeneron also plans to use the genomic data in its drug development efforts. Using the data will enable the company "to speed the discovery and development of new and improved medicines for patients in need," Aris Baras, vice president and co-head of the Regeneron Genetics Center, said in a statement.