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Children's National Hospital Wins $12.8M NIH Grant for Pediatric Mendelian Genomics Research Center

NEW YORK – Children's National Hospital said on Thursday that it has received a $12.8 million award from the National Institutes of Health's National Human Genome Research Institute to establish a Pediatric Mendelian Genomics Research Center as part of a new NHGRI-sponsored Mendelian genomics research consortium.

Under the grant, awarded June 1, investigators from Children's National and genetic diagnostics firm Invitae will work together, enrolling an average of 2,600 participants per year with suspected Mendelian phenotypes. The goal is to identify novel causes of rare inherited diseases and to investigate mechanisms that underlie these undiagnosed conditions.

As part of the project, the Molecular Diagnostics Laboratory at Children's National will provide genetic testing for patients in the Washington, D.C., metropolitan area. Invitae will add to that by testing patients from elsewhere in the US. The effort will integrate multiple genomic technologies, including short-read and long-read sequencing, optical genome mapping, and RNA sequencing, and will use additional technologies to disambiguate variants of uncertain significance and candidate genes.

Scientists from both Children's National and Invitae will jointly analyze the data.

"Our overall approach provides an efficient and direct path for pediatric patients affected with undiagnosed inherited conditions," Eric Vilain, director of the Center for Genetic Medicine Research at Children's National, said in a statement.

"Too often parents of children suffering from a rare condition find themselves in a protracted diagnostic odyssey when early intervention could mean better overall outcomes," added Robert Nussbaum, Invitae's chief medical officer.

According to the new collaborators, the project also aims to establish new best practices for obtaining a genetic diagnosis and explaining a condition to affected patients. Findings from the effort could also help better explain basic biological mechanisms that underlie these conditions, hopefully leading to new management strategies.