Researchers at Rady Children’s Hospital said Monday they have started whole genome sequencing of San Diego County children born with birth defects that don’t have a known origin.
Hospital officials hope to study data on children born with abnormalities like congenital heart defects and cleft palates, to learn risk factors that could help prevent such cases in the future, or gain insight into treatments.
“By adding the power of genomic sequencing (to other research), we have the opportunity to increase the speed of scientific discovery exponentially and expedite the translation to actionable prevention, treatments and cures,” said Christina Chambers, who is leading the effort as the first faculty member of the Rady Pediatric Genomics and Systems Medicine Institute.
The hospital estimated that 2-3 percent of children are born with a defect that is recognizable at birth.
“The Rady Pediatric Genomics and Systems Medicine Institute promises to be a groundbreaking incubator for discovery for birth defects research,” Chambers said.
She said she’ll look at both genetic and environmental factors, since birth defects often don’t have just one cause.
Chambers is a reproductive and perinatal epidemiologist with a research focus on environmental causes of adverse pregnancy outcomes, including birth defects. She is also a professor in the UC San Diego Department of Pediatrics.
—City News Service
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