Elizabeth J. K. Bhoj

Elizabeth J. K. Bhoj, MD, PhD, is an Assistant Professor of Pediatrics at the University of Pennsylvania’s Perelman School of Medicine and an attending physician with the Division of Human Genetics at Children’s Hospital of Philadelphia (CHOP). She holds both an MD and a PhD in Philosophy from the University of Texas Southwestern Medical Center at Dallas, complemented by residency and fellowship training at CHOP and additional training in the Medical Scientist Training Program.

• Education: MD and PhD in Philosophy from University of Texas Southwestern Medical Center at Dallas, Residency in Combined Pediatrics and Medical Genetics at CHOP, Fellowship in Molecular Genetics at CHOP, and additional training in Medical Scientist Training Program.
• Editorial: Associate Editor at American Journal of Medical Genetics since 2016 and Instructor/Editor at Becker Profession Education for USMLE Genetics and Biochemistry since 2013.

Dr. Bhoj specializes in identifying and treating complex genetic disorders, with a focus on integrating clinical and laboratory data for rapid diagnosis. Her research spans neurodevelopmental syndromes, craniofacial anomalies, and targeted therapeutic development, particularly for conditions like TBCK-related intellectual disability and MYRF-associated cardiac/urogenital syndromes. She employs advanced genetic sequencing technologies and emphasizes holistic patient care.

Her 15 most recent publications highlight expertise in

• genetic syndrome discovery (e.g., TBCK, MYRF, CAMK2A/B mutations)
• craniofacial and skeletal developmental disorders
• genotype-phenotype correlations
• translational research for rare diseases
• exome data reanalysis
• imprinting disorders (maternal uniparental disomy of chromosome 20)

Scientific Awards

• Burroughs Wellcome Foundation Career Award for Medical Scientists (2018)
• William K. Bowes, Jr. Award in Medical Genetics (2018)
• Roberts Collaborative Forefront Award (2018)
• Society for Pediatric Research Physician Scientist Award (2018)
• Multiple other accolades from 2014–2017, including travel awards and poster prizes at CHOP and national conferences

Dr. Bhoj’s work emphasizes collaborative research, as seen in her roles on CHOP’s Ethics Committee (since 2012), her leadership in developing diagnostic algorithms for facial asymmetry, and her advocacy for families of children with undiagnosed genetic conditions. She actively lectures nationally on leveraging patient cohorts for gene discovery and therapeutic innovation.