Research Summary

During the Summer of 2018, I had the privilege to complete the NOB-TRIP, which stands for Neuro-Oncology Branch Translational Research Immersion Program, which included meetings with the chief of our branch, as well as laboratory and clinical shadowing opportunities, all in supplement to our personal research. My own research probed specific mutations in the hypoxia signaling pathway often correlated with malignant brain and neural system cancers. I completed functional studies of mutations in the HIF-2A protein, which tends to be amplified in cells eventually leading to malignant cancer. Additionally, we completed studies of the Von-Hippel Lindau (VHL) Protein, which has a tumor-suppressing function, and when mutated, can lead to cancer. The foundation for these studies was provided by real clinical data from patients at the NIH Clinical Center, including patients that presented both mutations of interest, as well as polycythemia (a blood cancer) and paragangliomas. The two mutations studied in most detail were HIF-2A E548K, and VHL M54I. Proteins of interest, from cells with the aforementioned mutations, were quantified using cell transfection and subsequent Western Blot analysis.