Genetics of PFIC: Current Status and Implications

I am writing this summary in the spring of 2018. My Ph.D. training was in human genetics, and in the 25 years since then, I have performed research at the intersection of genetics and cholestatic liver disease. My work has focused on understanding the genetic factors contributing to inherited cholestasis, including PFIC and related diagnoses such as BRIC (benign recurrent intrahepatic cholestasis) and hypercholanemia, as well as ICP (intrahepatic cholestasis of pregnancy). I have also performed genetic and physiologic research using a mouse model of PFIC1, also called FIC1, or ATP8B1, deficiency.

In this article, I will try to provide an overview of our current understanding of the genetics of PFIC, based upon our work and that
of colleagues in the field. I will also indicate some of what still remains unknown.

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