Epidemiology and Human Genetics
Area of Doctoral Study: Epidemiology and Human Genetics
Undergraduate Institute: University of Georgia
Research Advisor: Robert Bloch, Ph.D.
Description of Research
I research muscular dystrophy in the Robert Bloch Laboratory. There are two projects that I’m currently working on. In one project, I study a gene CRYM, that is over-expressed in some people with facioscapulohumeral muscular dystrophy (FSHD). The protein produced by this gene binds T3 thyroid hormone which can act as a transcription factor for over 200 other genes. The goal of my project is to determine if this CRYM gene may be modulating the severity of FSHD. In my second project I’m characterizing mutations that occur in the dysferlin gene. People with mutations in their dysferlin gene can develop limb-girdle muscular dystrophy type 2b or Miyoshi myopathy. My research focuses on characterizing some observed mutations in patients with these diseases to provide a better understanding of what is causing their symptoms and to establish targets for future therapeutic approaches.