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.
MD: Washington University, St. Louis, MO, 1975-1979.
Internship and Residency: University of Cincinnati College of Medicine, Cincinnati, OH.
Fellowship: Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center,OH, 1982-1985; Clinical Genetics and Clinical Biochemical Genetics, Cincinnati Children's Hospital Medical Center, OH, 1993-1995.
Certification: American Board of Pediatrics, 1986; American Board of Pediatrics, Sub-Board of Pediatric Endocrinology, 1989; American Board of Medical Genetics, Board-Certified in Clinical Genetics and Clinical Biochemical Genetics, 1996, Active in MOC.
Galactosemia; PKU; inborn errors; newborn screening; lysosomal storage disease
Aerodigestive and Sleep, Fanconi Anemia, Retinoblastoma, Hereditary Cancer, Aerodigestive and Esophageal, Genetics
Focus on inborn errors of metabolism, with an emphasis on long term outcome in PKU and in the molecular biology of galactosemia
Cincinnati Children's strives to accept a wide variety of health plans. Please contact your health insurance carrier to verify coverage for your specific benefit plan.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. Journal of Neuromuscular Diseases. 2022; 9:713-730.
A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening. International Journal of Neonatal Screening. 2022; 8:43.
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. Frontiers in Genetics. 2022; 13:887698.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiology in the Young. 2022; 32:364-373.
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Movement Disorders. 2022; 37:375-383.
Participant choices for return of genomic results in the eMERGE Network. Genetics in Medicine. 2020; 22:1821-1829.
Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm. Anesthesia and Analgesia. 2020; 130:1678-1684.
A comparison of clinical outcomes and transplant complications/morbidity with early (<4 months of age) versus late (~ 1 yr of age) hematopoietic stem cell transplant in sibling pairs with a diagnosis of MPS I (Hurler syndrome). Molecular Genetics and Metabolism. 2020; 129:s161.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Genetics in Medicine. 2019; 21:2543-2551.
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. Human Mutation. 2019; 40:2146-2164.