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My focus is in developing gene or pharmacologic therapies for genetic diseases in which mutations lead to chronic diseases. I devote significant effort to developing treatment strategies for cystic fibrosis (CF), a lethal autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. I study treatment options for other ABC transporters, similar to CFTR, such as ABCA4, which causes, Stargardt macular degeneration which leads to macular destruction in children. I am actively involved in developing strategies for reducing cyst formation in Autosomal Dominant Polycystic Kidney disease , the most common dominant genetic disorder in humans.
My focus is in developing gene or pharmacologic therapies for genetic diseases in which mutations lead to chronic diseases. I devote significant effort to developing treatment strategies for cystic fibrosis (CF), a lethal autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. I study treatment options for other ABC transporters, similar to CFTR, such as ABCA4, which causes, Stargardt macular degeneration which leads to macular destruction in children. I am actively involved in developing strategies for reducing cyst formation in Autosomal Dominant Polycystic Kidney disease , the most common dominant genetic disorder in humans.
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American Journal of Physiology-gastrointestinal and Liver Physiologyno. 5 (2023): G404-G414
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AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGYno. 3 (2023): C682-C693
American journal of physiology. Cell physiology (2023)
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HUMAN GENE THERAPYno. 21-22 (2023): 1135-1144
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