TBCK Syndrome | CHOP Research Institute
 

TBCK Syndrome

In the News: 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.

Snapshot Science: 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 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.

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
Xilma R. Ortiz-Gonzalez, MD, PhD
Xilma R. Ortiz-Gonzalez

Dr. Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. Her clinical work focuses on finding a unifying genetic diagnosis for children with rare neurodevelopmental disorders. Her research is informed by her patients and focuses on understanding how genetic changes, in particular those affecting mitochondrial function, cause disease so we can develop better treatments for these children in the future.