NIH R01 · 2024
Gene regulatory networks for heart development
PROJECT SUMMARY Congenital heart defects (CHDs) are the most prevalent and serious birth defects, occurring in over 1% of live births. Major subsets of congenital heart defects are defective septation of the atria or ventricles, and conduction system defects, which often co-exist within an individual. The molecular and cellular basis of congenital heart defects remains poorly understood, and an understanding is necessary to develop new diagnostic and therapeutic modalities. The genetic basis of human CHD is largely from dominant mutations in transcription factors (TFs) and chromatin-modifying factors, resulting in their reduced dosage. How reduced dosage of a transcriptional regulator…
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