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The primary interests of Huang Lab are in the
molecular basis of genetic diseases in humans.
Currently, the Lab is focusing on Holt-Oram syndrome
(HOS, Heart-Hand syndrome), an autosomal dominant
condition with congenital cardiac defects and
forelimb anomalies. This condition is caused by
mutation of TBX5. We are employing clinical and
basic research approaches to understand the
intracellular pathway of TBX5, molecular basis of
phenotypic variations and its gene regulation.
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