Nickerson
Co-Investigator
Rettie
Co-Principal Investigator
Our resource, termed F-CAP (Functionalization of Variants in Clinically Actionable Pharmacogenes) will test all possible substitutions at all amino acid residues in some of the most clinically important pharmacogenes and disseminate these data to the medical and research communities. |
Patient-to-patient variability in response to drugs creates a significant challenge for the safe and effective treatment of many human diseases. Pharmacogenomics seeks to address this challenge by linking drug response to patient genotypes at important loci, termed pharmacogenes, in order to better customize patient treatments.
Amongst 12 CYP genes, 10% of people carry at least one rare, potentially deleterious variant. Unfortunately, only a small number of variants have been unambiguously linked to alterations in drug response. Clearly, new approaches are needed to annotate the consequences of the huge pool of variants of unknown significance, including those already identified by existing large-scale sequencing programs, and those that will be discovered as clinical sequencing becomes routine. In this proposal, we seek to address this problem directly and at a scale never before possible by taking advantage of new technologies in sequencing and functional analysis. |