Pitt Pediatrics congratulates Cecilia W. Lo, PhD, FAHA, distingushed professor and F. Sargent Cheever Chair of Pitt's Department of Developmental Biology, on discovery of a protective gene expected to lead to improved genetic treatments for heart diseases.
Working in collaboration with Brian Feingold, MD, MS, FAHA, professor of pediatrics and clinical and translational science, and postdoctoral researcher Xinxiu "Cindy" Xu, PhD, the team obtained genetic samples from eight family members with large atrial septal defect.
Following whole genome sequencing and CRISPR-Cas9 gene editing, the team created a "disease-in-dish" model. Simultaneous deleterious and protective gene mutations led to survival of mouse embryos and also replication of the atrial septal defect, providing evidence that the two genes cooperate to cause congenital heart disease.
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