Elizabeth Bhoj

Elizabeth Bhoj is an Assistant Professor of Pediatrics (Human Genetics) at the University of Pennsylvania, affiliated with the Children's Hospital of Philadelphia. She earned her MD and PhD in Human Genetics from the University of Texas Southwestern Medical Center and completed postgraduate training in Pediatrics, Medical Genetics, and Translational Research.

Research Interests: Her lab focuses on translational genetics to diagnose and treat novel human syndromes, particularly those affecting neurodevelopment. Key areas include gene discovery, exome/genome sequencing, and targeted therapeutics for conditions like histone 3.3 mutations and TBCK-related encephalopathy. Her work bridges basic science (e.g., mouse and iPSC models) with clinical applications, aiming to develop therapies for progressive neurological disorders.

• Studied H3F3A/B germline variants causing neurodegeneration
• Explored TBCK mutations and mTOR pathway dysregulation
• Investigated RASopathy diagnostics and CAMK2A/B intellectual disability syndromes