Bhoj Laboratory

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The Bhoj Lab is a genetics lab that discovers new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, the lab focuses on three novel genes that lead to pediatric neurologic dysfunction: TBCK, H3F3A/B, and MAP4K4. A bedside-to-bench-to-bedside translational lab, the lab brings its discoveries back to the patients.

Project Highlights

  • Novel human gene discovery in pediatric patients with undiagnosed syndromes
  • Pathogenesis and therapy development in patients with Histone 3.3-related neurologic dysfunction — both animal models and human cells.
  • Role of TBCK in normal and abnormal neurodevelopment, leucine and related compounds to treat TBCK-related neurodegeneration.
  • The mechanism of MAP4K4, a novel RASopathy gene, in neurologic and psychiatric disease. Pathway analysis and drug screen for targeted therapies.
Leader

Elizabeth J.K. Bhoj, MD PhD

Attending Physician
Dr. Bhoj's genetics research aims to discover new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, Dr. Bhoj focuses on three novel genes that lead to pediatric neurologic dysfunction: TBC1 domain-containing kinase, Histone 3.3 (H3F3A and H3F3B), and MAP4K4.