I’m co-director of the Genetics and Genomics Diagnostic Laboratory, specializing in clinical, biochemical genetics, fatty acid oxidation disorders, branched-chain amino acid disorders, mitochondrial disorders, mass spectrometry method development and inborn errors of metabolism. I work with clinical chemistry and the mass spectrometry core to interpret biochemical genetic testing (acylcarnitine profiles, urine organic acids and amino acid profiles) for clinical testing at Cincinnati Children's. I aim to provide evidence for the best care for our kiddos and bring new testing methods for rare inborn errors of metabolism. I’m always looking to collaborate!
My interest in this work stems from my desire to help children, but I needed to figure out how to do that without attending medical school. I loved Punnett squares in high school, which solidified my interest in genetics. My love for public health genetics and newborn screening led me to the Vockley lab, where they work on fatty acid oxidation disorders. I wanted to make an impact on functional testing and turnaround times. I also learned what a clinical biochemical genetics laboratory director does, and the rest is history.
My PhD dissertation work included developing knock-out models for ACADVL and IVD genes in HEK293T cell lines to screen variants of uncertain significance from newborn screen follow-up and determine the pathogenicity of those variants. My fellowship work included developing a liquid chromatography-mass spectrometry method to determine the enzyme activity of short-chain enoyl-CoA hydratase (SCEH) and a modified acylcarnitine method to determine biomarkers in critically ill infants presenting with lactic acidosis.
I was honored to receive the SIMD Travel Awards (2019, 2022, 2024). I have been a researcher for over three years and began working at Cincinnati Children’s in 2024. When I’m not at work, I enjoy reading, hiking and hanging out with my cats.
PhD: University of Pittsburgh, Pittsburgh, PA, 2022.
MPH: University of Pittsburgh, Pittsburgh, PA, 2018.
BS: Penn State Behrend, Erie, PA, 2016.
Fellowship: Clinical Biochemical Genetics, Children's Hospital of Colorado, Aurora, CO, 2024.
Certification: Public Health, 2018.
Clinical biochemical genetics; inborn errors of metabolism; fatty acid oxidation disorders; branched chain disorders
Genetics, Human Genetics
Mass spectrometry method development
Human Genetics
A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria. Molecular Genetics and Metabolism. 2024; 142:108495.
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism. 2023; 140:107689.
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction. Molecular Genetics and Metabolism Reports. 2022; 33:100932.
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics. Cells. 2022; 11:2635.
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening. Journal of Inherited Metabolic Disease. 2022; 45:529-540.
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis. Molecular Genetics and Metabolism. 2021; 134:29-36.