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Einstein, CHOP to Study Heart Abnormality Genes

NEW YORK (GenomeWeb News) – Scientists at Albert Einstein College of Medicine of Yeshiva University and collaborators at the Children's Hospital of Philadelphia will use a $6.7 million grant from the National Institutes of Health to study genes involved in rare and common congenital heart abnormalities called conotruncal defects (CTDs).

The funding comes from the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

In one part of the study, Einstein principal investigator Bernice Morrow, director of translational genetics and the Sidney L. and Miriam K. Olson Chair in Cardiology, will examine CTDs that occur in patients with a syndrome that is caused by the deletion of a small part of chromosome 22. That deletion is present in around one in every 4,000 live births, and it can cause a range of abnormalities beyond CTDs, including immune deficiencies, mild craniofacial deformities, and behavioral or intellectual disabilities.

One of the genes in the deleted region involved, TBX1, is largely responsible for the physical abnormalities, and Morrow believes that DNA variations in other genes may influence the severity of the disorder. This research will use human and mouse DNA to discover these modifier genes and study how they interact with each other and with TBX1.

In another part of the research, the collaborators will examine whether genes in the deleted region also are involved in another, more common type of CTDs and may be more relevant to a larger number of people.

"We hope that this project will greatly expand our understanding of the genetic basis of CTDs and lead to novel therapies and preventive strategies for these defects," Morrow said in a statement.