CHOP Receives $3.6 Million NIH Award to Correlate Pediatric DNA Data with Patient Health Records, Improve Care

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NIH Award for Pediatric DNA Data Dr. Hakonarson is the director of CHOP’s Center for Applied Genomics. CHOP will receive $3.6 million from the National Institutes of Health (NIH) to support research into the genetic causes of common pediatric conditions, and to return this genomic information to families and patients, to better inform therapies. The award is from NIH’s Electronic Medical Records and Genomics (eMERGE) program.

Researching genetic causes of autism and other disorders in large population of children

The funding will allow CHOP to further investigate genetic causes of autism, intellectual disability, attention deficit-hyperactivity disorder, epilepsy and diabetes in a large number of children, based on DNA sequencing data stored in the Hospital’s biorepository. As they return this genomic information to families, CHOP researchers will evaluate the effect of this information on patient care, including its impact on testing and treatment decisions.

CHOP is one of only two pediatric sites in the eMERGE network, and has led and published numerous studies from earlier stages of the network’s program.

World's largest pediatric biobank

“We have established the largest pediatric biobank in the world, and by coupling the genotyping and sequencing data we have produced from these samples with medical information from the electronic health records from CHOP and other eMERGE sites, we have the ability to identify the most effective therapies for our patients as we move forward in the era of precision medicine,” said principal investigator Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics.

About eMERGE

The National Human Genome Research Institute, part of the NIH, announced awards to CHOP and 11 other research centers on Sept. 1 as the third phase of the eMERGE program. Pending available funding, the awards total $48.6 million over the next four years.

The NIH press release announcing the grants stated the program’s goal is “to better understand the genomic basis of disease and to tailor medical care to individual patients based on their genomic differences.” The funded researchers will analyze the best methods to provide DNA test results to physicians and patients, as well how physicians may use this information to improve treatment and clinical practice.

To see the NIH announcement of these awards, click here: