The research in my laboratory occurs at the interface of genetics and hepatology. We identify and study genetic factors contributing to development of cholestatic liver disease in people and mouse models.
Regarding human studies, we have led or contributed to identification of a number of cholestasis disease genes, and characterization of their associated phenotypes. Our current studies focus on use of genomics approaches, including whole-genome and whole-exome sequencing, to identify likely novel disease-causing variants in cholestasis patients in whom screening of known cholestasis genes has not yielded a genetic diagnosis. We also continue to contribute to improved understanding of the relationship between phenotype and genotype in genetically defined forms of cholestasis.
Regarding mouse studies, we are completing a genetic mapping study, localizing genes that modify the phenotypes of ATP8B1 deficiency.