Translational Research | CHOP Research Institute

‘Progress to Benefit Patients:’ Faculty Spotlight With Elizabeth Bhoj, MD, PhD

Published on

Feb 28, 2022

Faculty Spotlight With Elizabeth Bhoj, MD, PhD

From bench to bedside, Dr. Bhoj studies rare genetic disorders, particularly neurologic syndromes.

Mossé Laboratory

The Mossé Laboratory studies the role of the anaplastic lymphoma kinase (ALK) oncogene in the initiation and progression of neuroblastoma, with a focus on developing innovative therapeutic strategies for patients with this often lethal disease.

Margaritis Laboratory

The Margaritis Lab uses basic biochemical, molecular, and complex in vivo methodology within the field of coagulation to advance the understanding of molecular mechanisms involved in pro- and anti-coagulant reactions and conduct translational research for the treatment of coagulation defects.

Center for Human Phenomic Science

The Center for Human Phenomic Science provides the resources, environment, operations, and training to support and promote high-quality clinical and translational research by qualified investigators.

A Voice for Children's Injury Prevention: Q&A With Flaura Winston, MD, PhD

Published on

Apr 9, 2021

in Cornerstone Blog

A Voice for Children: Q&A With Flaura Winston, MD, PhD

ACTS recognizes Flaura Winston, MD, PhD, for translating her research into effective public policy.

Thyroid Center Frontier Program Tackles Unknowns of Pediatric Thyroid Cancer

Published on

Jan 28, 2021

in Cornerstone Blog

The Thyroid Center at CHOP recently earned Frontier Status, allowing it to research the many unanswered questions about pediatric thyroid cancer.

Bhoj Laboratory

The Bhoj Lab discovers new human disease genes, their mechanisms, and potential targeted therapies. A bedside-to-bench-to-bedside translational lab that brings discoveries back to patients, we are focused on three novel genes that lead to pediatric neurologic dysfunction: TBCK, H3F3A/B, and MAP4K4.

Elizabeth J.K. Bhoj, MD PhD

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.

E-mail:

bhoje [at] chop.edu

Shana E. McCormack, MD, MTR

Dr. McCormack investigates the intersection of neuroendocrinology and metabolism. Her translational research program involves two areas. The first involves studying those with genetic disorders, including primary mitochondrial diseases and Friedreich's ataxia, with characterized risk for diabetes mellitus. Second, Dr. McCormack focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension.

E-mail:

mccormacks1 [at] chop.edu

CHOP's Inflammatory Bowel Disease Symposium Attracts Leading Experts

Published on

Jul 18, 2018

in Cornerstone Blog

Symposium focuses on translational research and clinical discussions on the forefront of pediatric inflammatory bowel disease and very early onset IBD.