My father, who was a primary care internist, inspired me to become a doctor. I like children and the people who care for them, which is why I chose my current focus.
As a clinical and biochemical geneticist, I take care of families, children and adults with a known or suspected genetic condition. Biochemical genetics focuses on inborn errors of metabolism. These conditions are genetic changes that impact how our bodies use food and energy, transport chemicals into and out of cells and dispose of waste products.
My field involves a lot of chemistry, which is why I like it.
I am a leader in developing newborn screening processes for early diagnosis and management of genetic conditions. This screening is often the first contact a family has with the Cincinnati Children’s Hospital Medical Center genetic/metabolic team.
For most metabolic disorders, care is a partnership. Our team may work with a family from the newborn stage into adulthood. If a child’s care plan involves something as basic as food, it means a diagnosis will impact daily life, birthday parties, school, college and more. When doctors and the family are on the same team, we find ways to say, "Maybe try this," rather than, "You can't have that."
In my research, my team collaborates with other researchers and our industry to evaluate new ways to offer care to our families.
I’m honored to have served as the chair of the Ohio Newborn Screening Advisory Council for more than 10 years. This council includes individuals from multiple disciplines and family members. The council helps the Ohio Director of Health make decisions about what should be included in newborn screenings.
With my free time, I like to do crossword and logic puzzles. I sing in a choir and play the pipe organ and piano. I also like to sew quilts, clothing, face masks and things we can use in the clinic.
Galactosemia; PKU; inborn errors; newborn screening; lysosomal storage disease
Focus on inborn errors of metabolism, with an emphasis on long term outcome in PKU and in the molecular biology of galactosemia
Professor, UC Department of Pediatrics
Aerodigestive and Sleep, Fanconi Anemia, Retinoblastoma, Hereditary Cancer, Aerodigestive and Esophageal, Genetics