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[email protected] Aims to Uncover Genetics of Rare and Common Pediatric Disease


The Children's Hospital of Philadelphia and BGI are partnering to conduct large-scale sequencing and bioinformatics studies of rare and common pediatric diseases at a newly established Joint Genome Center at the hospital, the organizations said this week.

The new center, known as [email protected], became operational last month. It combines BGI's sequencing abilities with the hospital's extensive biobank and expertise in clinical phenotyping to better understand both rare and common pediatric diseases.

"We now have a clear path forward into the genomics-based personalized medicine arena," Hakon Hakonarson, director of the Center for Applied Genomics at Children's Hospital, said in a statement.

Utilizing the hospital's large pediatric biobank and the fact that many of the samples have been linked to clinical data via electronic medical records will allow the researchers to follow disease processes into adulthood, Hakonarson added.

"The ultimate goal is to change the way we diagnose and treat diseases that affect children and families," Philip Johnson, scientific officer at CHOP, said.

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