Timeframe: 2014 – 2015
Goal: Identify genetic mutations in FLC
Principal Investigator: Sandy Simon, Ph.D., Professor, Rockefeller University
The goal of this project was to identify genetic mutations present in FLC. The team used whole genome sequencing together with RNA sequencing to identify mutations in FLC tumors compared to their normal liver counterparts. Identification of mutations common in FLC tumors is critical to enhancing the understanding of the underlying biology of this tumor and allow for development of novel therapeutics.
This research ultimately resulted in game-changing discovery of a unique genetic mutation, a chimeric gene, common to all fibrolamellar tissues studied. This research was conducted at the Tucker Davis Research Facility at Rockefeller University, led by Dr. Sandy Simon. His daughter Elana, who is a fibrolamellar patient, was a lead researcher. The results were published in the preeminent medical journal Science and reported in The Wall Street Journal, US News and World Report, AP, The Today Show, NBC Nightly News, and presented to President Obama.