TBCK Syndrome | CHOP Research Institute
 

TBCK Syndrome

Molecular Mechanisms of TBCK Syndrome: Q&A With Diversity Fellow Kristen Navarro, PhD

Published on
Nov 17, 2023
in Cornerstone Blog
Q&A With Diversity Fellow Kristen Navarro, PhD
Kristen Navarro, PhD, discusses her definition of diversity in science, her research on rare diseases, and her cat, Caramel.

Community at Center of Rare Disease Research for TBCK Syndrome

Published on
Oct 26, 2023
in Cornerstone Blog
Community at Center of Rare Disease Research for TBCK Syndrome
Xilma Ortiz-Gonzalez, MD, PhD, guest speaker at the 2023 TBCK Conference, shares new research for a rare, progressive, neurodegenerative disease.

Hispanic Heritage Month: Q&A With Featured Research Staff Marco Flores-Mendez, PhD

Published on
Oct 12, 2023
in Cornerstone Blog
Meet Featured Research Staff Member Marco Flores-Mendez, PhD
The Featured Research Staff Member for Hispanic Heritage Month is Marco Flores-Mendez, PhD.

CureARS, Pigment Production, TBCK

Published on
Oct 14, 2022
in Cornerstone Blog
In the News
Read the latest findings and new grants from Children’s Hospital of Philadelphia researchers.

Pediatric Neurodegenerative Biorepository

The purpose of this study is to create a biorepository to support our ongoing and future studies on ultra-rare pediatric neurodegenerative disorders.

Could Improved Mitochondrial Function Affect Pediatric Neurodegeneration?

Published on
Oct 21, 2021
in Cornerstone Blog
TBCK-patient derived fibroblasts
Findings support lysosomal acidification strategies for pediatric neurodegenerative disorders with impaired mitochondrial quality control.

Ortiz-Gonzalez Laboratory

Ortiz-Gonzalez Lab

The Ortiz-Gonzalez Lab investigates whether mitochondrial dysfunction is a common, underlying factor in rare pediatric neurodegenerative disorders.

Early Career Neurogeneticist Receives 2020 Burroughs Wellcome Fund Award

Published on
Jun 18, 2020
in Cornerstone Blog
Xilma Ortiz-Gonzalez
Xilma Ortiz-Gonzalez, MD, PhD, a neurogeneticist early in her career, receives a Burroughs Wellcome Fund Career in Medical Sciences Award.

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