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Gene Discovery

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

Published on
Feb 28, 2022
in Cornerstone Blog
Faculty Spotlight With Elizabeth Bhoj, MD, PhD
From bench to bedside, Dr. Bhoj studies rare genetic disorders, particularly neurologic syndromes.

Faculty Spotlight: ‘Bench to Bedside and Back’ With Rebecca Ahrens-Nicklas, MD, PhD

Published on
May 10, 2021
in Cornerstone Blog
Faculty Spotlight: ‘Bench to Bedside and Back’ With Rebecca Ahrens-Nicklas, MD, PhD
Meet our featured Faculty Spotlight scientist for May, Rebecca Ahrens-Nicklas, MD, PhD, assistant professor of Pediatrics at CHOP.

Vanderver Laboratory

Vanderver Laboratory

The Vanderver Lab uses a translational, multi-stakeholders research model to investigate underlying causes and clinical manifestations of leukodystrophies and other related white matter disorders, in order to support meaningful advances in the diagnosis and treatment of these conditions.

Ahrens-Nicklas Laboratory

Ahrens-Nicklas Lab

The Ahrens-Nicklas lab combines translational studies in patients with molecular, biochemical, and electrophysiologic studies working with animal models to develop novel therapies for rare inherited pediatric disorders.

Rebecca C. Ahrens-Nicklas, MD, PhD
Rebecca C. Ahrens-Nicklas, MD, PhD

Dr. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.

E-mail:
ahrensnicklasr [at] chop.edu

Bhoj Laboratory

Bhoj Lab

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
Elizabeth J.K. Bhoj

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