Elizabeth J.K. Bhoj

Elizabeth J.K. Bhoj, MD PhD, is an Assistant Professor of Pediatrics (Human Genetics) at the University of Pennsylvania and an Attending Physician at Children's Hospital of Philadelphia (CHOP). She leads the Bhoj Laboratory, a translational research group focused on discovering novel human disease genes and developing targeted therapies for pediatric neurologic disorders.

• Key Research Areas:
  • Gene discovery in undiagnosed pediatric syndromes
  • Mechanisms of Histone 3.3 (H3F3A/B) in neurologic dysfunction
  • TBCK-related neurodegeneration and leucine-based therapies
  • MAP4K4's role in RASopathy-associated neurologic/psychiatric diseases
• Methodologies:
  • Advanced sequencing technology
  • Patient-derived cells
  • Mouse and iPSC models
  • Pathway analysis and drug screening

The lab's work bridges bedside-to-bench-to-bedside approaches, with a focus on mTOR pathway modulation and targeted therapies for rare genetic conditions like TBCK Syndrome.

Scientific Awards

• Early Career Award (2025)
• Biomedical Research Award (2022)

Dr. Bhoj's research has been highlighted in CHOP's Women in STEM 2024 initiative, emphasizing her contributions to genetic medicine.