My research interests have always centered on human molecular genetics, and specifically how it can inform basic science research and the diagnosis of genetic disorders. In my faculty work, I have specifically focused on pediatric disorders, which hold the potential to benefit from timely intervention. This has required many years of specialized training. I received my MD and PhD through the Medical Scientist Training Program at University of Texas Southwestern Medical Center at Dallas with a focus on patient-driven gene discovery. I also was awarded a Masters of Translation Research from Penn, where I gained additional translational research skills. For clinical training I graduated from the pediatrics/medical genetics combined residency program and clinical molecular genetics fellowship at the Children’s Hospital of Philadelphia (CHOP). As a result, I am board-certified in three specialties: pediatrics, clinical genetics, and molecular genetics. I am the only person at Penn/CHOP, and one of the few people in the world, who has this specialized training. After clinical training I joined the Center for Applied Genomics under Hakon Hakonarson as a postdoctoral research/instructor, with whom I published nearly two dozen manuscripts.

In 2018 I started an independent laboratory at CHOP as an assistant professor (tenure-track) at Penn. My laboratory focuses on novel gene discovery in pediatric Mendelian disorders, and a deep mechanistic understanding on a subset of those diseases. The two disorders including patients with germline mutations in the cancer-driver genes H3F3A and H3F3B. We also have been testing the first targeted treatment (a branch chain amino acid mixture) for the treatment of TBCK-related encephalopathy. These studies all converge on targeted therapy development for these incurable and fatal disorders. I have led multiple international disease-discovery consortia, some with over 100 collaborators from dozens of countries. We use many modalities, including mouse models, iPSCs, patient-derived cells, and computational biology. As an leader in the field of translational genetics, my work has been recognized with the multiple awards. I have been awarded Landenberger Family Foundation Research Award, Burroughs-Wellcome Foundation Career Award for Medical Scientists, Society for Pediatric Research Physician-Scientist Award, Roberts Genomics Forefront Award, Bowes Award in Medical Genetics from Harvard Medical School, as well as funding from NICHD, NINDS, NLM, and the Chan-Zuckerberg Initiative.