Genetic inheritance of mutations leads to a variety of disease pheonotypes. As a biochemist in the King Lab, I am collaborating with colleagues to investigate the biochemical properties that underlie disease-causing mutations. I am currently involved in two projects: Non-Syndromic Hearing Loss and Systemic Lupus Erythrematosus.

Non-Syndromic Hearing Loss is a genetic disease that affects children world-wide. Together with Tom Walsh and Vanessa Walsh in the King Lab, and in conjunction with both Dr. Moien Kanaan's Lab (Bethlehem University, Palestine) and Dr. Karen Avraham's Lab (Tel Aviv University, Israel), I am investigating the effect of inherited mutations on hearing loss. My collaborators have identified several familial mutations in TRIO and F-actin Binding Protein (TRIOBP), a protein expressed in cochlea and fetal brain, including mutations in a putative SH3 binding domain. My current project involves using a yeast two-hybrid assay to locate TRIOBP interacting proteins and to elucidate the effect of these inherited mutations on these protein-protein interactions and, consequently, on hearing loss.

Systemic Lupus Erythrematosus (SLE) is a systemic, multi-faceted autoimmune disease that currently afflicts approximately 1.5 million Americans. Together with Laura Flinn, I am investigating the role of a candidate gene in SLE. We have set-up an in vitro tissue culture system to investigate wild-type protein-protein reactions of this gene and the results of mutations on those interactions. We hope that a better understanding of these protein-protein interactions will lead to a better understanding of SLE.