Findings from a 2014 genome wide association study found that both coding and noncoding mutations in the transporter gene SLC16A11 are associated with an increased risk of Type II Diabetes Mellitus (T2DM) in certain Latin American populations. It was observed that these mutations are associated with decreased expression. Consequently, increasing expression of this gene could be beneficial to this population. Expression of SLC16A11 is low and does not reach the threshold of detection for standard PCR techniques. Therefore, the utilization of highly sensitive droplet digital PCR (ddPCR) is a more suitable strategy to detect SLC16A11 expression. However, manual assays that take advantage of the sensitivity of ddPCR are low-throughput, and can only test a low number of small molecules on SLC16A11 expression at a time. Although the entire process cannot be automated, we are improving efficiency by automating RNA extraction. This improved assay will allow for a higher throughput screening process that can test the effects of thousands of small molecules on SLC16A11 expression. If this assay development is successful, it could ultimately facilitate the discovery of therapies that could help the Latin American population.
PROJECT: Droplet digital PCR based screening for modulators of SLC16A11 expression
At the Broad Institute, I utilized cutting-edge technology in an environment that was challenging, yet supportive at all times. I was able to truly make my summer project my own while still receiving incredible feedback from my dedicated mentor. I experienced first-hand the Broad’s commitment to collaboration, and developed great relationships with my lab mates and inspiring cohort. This program has greatly cultivated my professional and wet lab skills, accelerating my path to be a successful contributor to the scientific community in a way I never could have imagined.