Early in my medical school training, I was moved by many families who had children with unanswered medical concerns and a lack of treatment options. I felt motivated to help families without answers and to develop new ways to treat rare diseases.
As a clinical and biochemical geneticist, I treat children and adolescents with:
- Lysosomal storage diseases
- Metabolic diseases
I listen with attention to patient and family concerns, and we develop treatment plans together. I actively look for new therapeutic opportunities and how to improve symptoms and quality of life when no standard of treatment exists.
We have developed a comprehensive team of providers and medical specialists to facilitate our understanding of diseases, anticipate complications and develop treatment plans. We constantly look at our treatment and management outcomes and for ways to improve them.
I co-direct the RASopathy Program and the Neurofibromatosis Program at Cincinnati Children’s, and I am also involved in education as the director of our Clinical Biochemical Genetics Fellowship Program.
I have been involved in providing care overseas in Colombia and the Dominican Republic. I work with various foundations to facilitate the identification and management of patients with rare diseases. In the United States, I work with family foundation groups to help them identify needs and access care. I am also the associate editor of the American Journal of Medical Genetics.
In my research, my colleagues and I are looking at ways to identify new treatment opportunities, develop biomarkers, and understand risk factors and modifiers that can help us anticipate medical problems or become treatment opportunities. We also work with collaborators to model genetic disorders for future treatment development.
During my free time, I enjoy traveling and cooking with my family.
RASopathies; neurofibromatosis; lysosomal storage diseases; metabolic diseases; mTORopathies
Treatment development for RASopathies and metabolic disorders; gene discovery and natural history of rare disorders
Associate Professor, UC Department of Pediatrics
Genetics, Rasopathy, Neurofibromatosis