Skip to main content
Premium Trial:

Request an Annual Quote

Children's National Health System, Regeneron Team Up on Exome Study

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.

The Scan

Study Tracks Off-Target Gene Edits Linked to Epigenetic Features

Using machine learning, researchers characterize in BMC Genomics the potential off-target effects of 19 computed or experimentally determined epigenetic features during CRISPR-Cas9 editing.

Coronary Artery Disease Risk Loci, Candidate Genes Identified in GWAS Meta-Analysis

A GWAS in Nature Genetics of nearly 1.4 million coronary artery disease cases and controls focused in on more than 200 candidate causal genes, including the cell motility-related myosin gene MYO9B.

Multiple Sclerosis Contributors Found in Proteome-Wide Association Study

With a combination of genome-wide association and brain proteome data, researchers in the Annals of Clinical and Translational Neurology tracked down dozens of potential multiple sclerosis risk proteins.

Quality Improvement Study Compares Molecular Tumor Boards, Central Consensus Recommendations

With 50 simulated cancer cases, researchers in JAMA Network Open compared molecular tumor board recommendations with central consensus plans at a dozen centers in Japan.