In This Section

Elizabeth J.K. Bhoj, MD PhD
Elizabeth J.K. Bhoj
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.



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Thousands of children are suspected to have a genetic disorder but have no diagnosis, even after expert evaluation. Many of these children have yet-undiscovered genetic syndromes, and Dr. Bhoj and her team aim to provide answers to families about their child’s medical issues and work toward targeted therapies for genetic disorders. Dr. Bhoj uses advanced sequencing technology to identify these novel syndromes. Two of the syndromes focused on in the lab are caused by disruption of Histone 3.3 (H3F3A and H3F3B) and TBC1 domain-containing kinase (TBCK).

Histone 3.3 is a replacement histone, and is vital for appropriate cell division, transcription, and many other processes. Somatic variants cause a variety of cancer, including pediatric glioblastoma. Dr. Bhoj and her team described a pediatric neurodegenerative condition caused by germline variants in H3F3A and H3F3B, which both code for Histone 3.3. Using patient cells, mouse models, and iPSC cells, they are learning more about why these genetic variants cause this disease. Their goal is to be able to learn enough about the pathogenesis of the disorder to develop the first targeted therapies for this progressive neurologic disorder.

In addition, the lab was instrumental in the discovery of TBC1 domain-containing kinase (TBCK) as a cause of progressive neurodegeneration in children. Little is known about TBCK, and the lab is learning more about how TBCK works in healthy tissues and contributes to neurodegeneration. Dr. Bhoj uses patient cells and model organisms to understand how the loss of this protein disrupts normal neurologic development. Early data suggested the mTOR pathway was downregulated in these patients, and Dr. Bhoj showed that leucine, an amino acid, is a potential targeted therapy. Dr. Bhoj and her team are now working on leucine and related compounds in animal models of the disease with the aim of starting a human trial.

Education and Training

BS, College of New Jersey (Biology/Philosophy), 2002

MD, PhD, UT Southwestern (Human Genetics), 2010

Fellowship, Children's Hospital of Philadelphia (Molecular Genetics), 2016

MTR, University of Pennsylvania (Translational Research), 2016

Titles and Academic Titles

Attending Physician

Assistant Professor of Pediatrics

Professional Memberships

American Academy of Pediatrics, 2010-

American Society of Human Genetics, 2012-

American College of Medical Genetics and Genomics, 2012-

Professional Awards

Alavi-Dabiri Postdoctoral Fellowship Award in Intellectual and Developmental Disabilities, Children's Hospital of Philadelphia, 2014

American Society of Human Genetics, Poster Walk Award, 2014

Institute for Translational Medicine and Therapeutics Scholarship, University of Pennsylvania, 2014

Distinguished CHOP Research Trainee Award, Children’s Hospital of Philadelphia, 2015

Neurodevelopmental Research Salary Support Award, University of Pennsylvania, 2014, 2015

Top Poster Award, American College of Medical Genetics and Genomics, 2015

Clinical Research for Rare Disease, Travel Award, 2016

ASHG/Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research, Semi-Finalist, 2017

Outstanding Translational Poster Award, CHOP Research Poster Day, 2017

Williams K. Bowes, Jr. Award in Medical Genetics, 2018

Physician-Scientist Award, Society for Pediatric Research, 2018

Career Award for Medical Scientists, Burroughs Wellcome Foundation, 2018

Publication Highlights