Eric Williams

• Ph.D., Cornell University (Neurobiology & Behavior)
• B.A., Cornell University (Genetics & Developmental Biology)

I study a rare form of human muscular dystrophy called dysferlinopathy. This disease is caused by mutations in the dysferlin gene and results in the loss of membrane repair in human skeletal muscle. We use the C. elegans worm to model the disease. These worms have a conserved homologous gene, which is also called dysferlin. Mutations in C. elegans dysferlin result in membrane fusion defects in developing sperm, ultimately causing sterility. In addition to our worm model, we also use cultured muscle cells in tissue culture to directly examine how dysferlin mutations affect human muscle cell biology. The aim of my research is to rescue the sterility of these worms and then apply that knowledge to human cells, with the ultimate goal of identifying a way to treat this rare form of muscular dystrophy.