Robert B. Diasio, M.D.
My research focuses on understanding the 5-FU toxicity observed in clinical settings using a pharmacogenomics approach.
I am investigating the effect of genetic alterations in the DPYD gene on 5-FU. DPYD encodes for the DPD enzyme, which is the first and rate-limiting enzyme involved in 5-FU catabolism. Presence of variations of DPYD alters cellular DPD expression, which in turns affects cellular sensitivity.
I am performing the functional characterization of reported DPYD nonsynonymous variants in order to assess the cellular sensitivity to 5-FU conferred by these variants.
Nov. 12, 2015