ASCI / Young Physician-Scientist Awards, 2022
The Young Physician-Scientist Awards (YPSA) recognize physician-scientists who are early in their first faculty appointment and have made notable achievements in their research.
About the awardee
Elizabeth Bhoj, MD, PhD, has always centered her research interests on human molecular genetics, and specifically how it can inform basic science research and the diagnosis of genetic disorders. In her faculty work, she has specifically focused on pediatric disorders, which hold the potential to benefit from timely intervention. This has required many years of specialized training. Dr. Bhoj received her 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. She also was awarded a Masters of Translation Research from the University of Pennsylvania, where she gained additional translational research skills. For clinical training, she 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, she is board-certified in three specialties: pediatrics, clinical genetics, and molecular genetics. After clinical training, she joined the Center for Applied Genomics under Hakon Hakonarson as a postdoctoral research/instructor.
In 2018, Dr. Bhoj started an independent laboratory at CHOP as an assistant professor (tenure-track) at Penn. Her laboratory focuses on novel gene discovery in pediatric Mendelian disorders, and a deep mechanistic understanding on a subset of those diseases. She has led multiple international disease-discovery consortia, some with over 100 collaborators from dozens of countries. Her lab uses many modalities, including mouse models, iPSCs, patient-derived cells, and computational biology. As a leader in the field of translational genetics, Dr. Bhoj's work has been recognized with the multiple awards. She has been awarded the 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.