PGRN Membership Spotlight
2005. I was leading the development of a molecular device to detect variants in the UGT1A1 gene in individuals receiving Irinotecan for colon cancer. I was also part of the International Haplotype Map Project and interested in variants in genes involved in drug response. I utilized the PharmGKB in my work and attended a meeting in Hawaii.
What is your current position/role, and what do you enjoy most about it?
For the past 15 years I have led a research program funded by NICHD at the ACMG focused on accelerating the discovery of novel technologies for screening, diagnosis, treatment, and management of disease in newborns and children. That effort is ending this year but it has been especially rewarding since I have a son with a condition that is now part of newborn screening around the world, Severe Combined Immunodeficiency.
How has PGRN helped your career in pharmacogenomics?
For almost twenty years, PGRN has provided amazing case studies for the application of genetics and genomics to improve outcomes in individuals across the lifespan. I think that pharmacogenomics has always been the most practical and useful application of genomics to individualize treatment and management of disease. For my next chapter, I am especially interested in adding pharmacogenomic variants to newborns and age-based screening panels to help inform parents and families.
What do you see as the most exciting advances in pharmacogenomics over the next 2-5 years?
The continued awareness of the importance of pharmacogenomics to optimize the use of lifesaving therapies. I think that it will be especially important in combination with gene and molecular therapies as we learn more about the outcomes after presymptomatic treatment of genetic disease.
Personal questionsIreland
When you’re not working, how do you enjoy spending your time?
Gardening and spending time with my twins.