“Genetic Analysis of Tbx1 in Disorders Involving the Great Vessels of the Heart”

Doctor's Name: 
Caroline E Burns, PhD
Massachusetts General Hospital, Charlestown

Individuals harboring a deletion on chromosome 22 can suffer from a variable array of birth defects that are known collectively as DiGeorge Syndrome (DGS), the most prevalent deletion syndrome in humans.  Among the most life-threatening conditions are congenital heart and vessel defects that appear to arise from reduced expression of TBX1, a gene in the typically deleted region. Over 50% of DGS patients show abnormal development of the aorta, which normally carries oxygenated blood away from the heart to the rest of the body. Why low levels of TBX1 cause aorta defects is currently unclear. Strangely, ~20% of people carrying the chromosome 22 deletion lack any detectable illness, suggesting that other unknown genes also influence whether a congenital birth defect will manifest. Based on these outstanding questions, our long-term objective is to reveal the precise mechanism by which TBX1 regulates formation of the aorta during embryogenesis and to identify new genes that influence whether a fetus carrying the chromosome 22 deletion develops DGS-related heart and aorta defects.

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