I first developed an interest in Genetics when I “met” the Punnett square in 8th grade. I graduated from Arizona State University with a BS in Biological Sciences and completed a PhD in Biological Sciences at the University of California, Irvine studying behavior genetics at the former and bacterial genetics at the latter. I was doing a post-doc at Scripps Clinic and Research Foundation in La Jolla California in the genetics of what makes bacteria pathogenic when I had my first child. I decided at that point, that working on a cow vaccine just didn’t cut it for me, so I went to medical school.
Life plays funny tricks on people so even though I started medical school at Washington University in St. Louis, I finished medical school at Oregon Health Sciences University in Portland OR. I also completed training in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics at OSHU. I practiced some general Pediatrics in Oregon and then was a metabolic physician at Children’s Mercy Hospital Kansas City. It was in Kansas City that I got the chance to incorporate whole exome/whole genome sequencing and interpretation into my work and it was there that I met the first patient I saw with a genetic change in MTOR.
I recently retired from practice at the University of North Carolina, Chapel Hill ; however, I still do some consulting for a company that focuses on expanding newborn screening for treatable or potentially treatable genetic conditions not currently screened for on state newborn screening as well as providing second tier molecular testing for several lysosomal storage disorders identified by expanded newborn screening. I will be doing some part time Clinical Genetics work in Philadelphia PA over the next year.
I like to read (particularly history), travel and spend time with my family and pets. I also love lemurs.