Sean Sun

AAV9 for Treatment of Inborn Error of Cholesterol Synthesis

Cholesterol is an essential molecule to survival. Some of its functions include being a precursor to steroid hormones, a component of cell membranes and cell signalling. Without cholesterol, we would lose control of blood pressure and our body’s cells would fail to acquire nutrients necessary for survival. My project investigates Smith-Lemli-Opitz Syndrome (SLOS), which is an inborn error of cholesterol synthesis. Because only one non-functional gene causes SLOS, we can apply gene therapy to integrate a functional gene into the genome of a SLOS cell. To date, we have improved cholesterol levels, except in the central nervous system. The blood-brain barrier causes this shortcoming. This natural barrier prevents cholesterol from entering the brain’s extracellular fluid. However, the vector AAV9 has been characterized to cross the blood-brain barrier. My project tests how efficiently AAV9 can transduce cells in the central nervous system compared to other methods.

Message to Sponsor

Thank you for giving me this opportunity in SURF. After committing to research in my freshman year, I decided to integrate research into my career. Your contributions have allowed me to immerse in full-time work in my lab to produce meaningful results that I have always struggled to produce in conjunction with a UC Berkeley course load. The support of the Pergo Foundation gives me a platform to explore my current research interests in gene therapy. I cannot wait to finally be in charge of my own project. Thanks again!
  • Major: Integrative Biology, Global Poverty and Practice (minor)
  • Sponsor: Pergo SURF fellow
  • Mentor: Gordon Watson, Molecular and Cell Biology - Genetics