Results for TBCK Syndrome

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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.

View Xilma R. Ortiz-Gonzalez's Profile

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] email.chop.edu

View Elizabeth J.K. Bhoj's Profile

Ortiz-Gonzalez Laboratory

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

Bhoj Laboratory

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.

LiBI Gathers Experts to Explore How Early Life Influences Neurodevelopment

Published on

Apr 12, 2019

in Cornerstone Blog

LiBI, a unique collaborative effort, bridges the gap between pediatric and adult research to learn how brain and behavior develop over a lifetime.

Bhoj Lab Research

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 the Bhoj Lab aims to provide answers to families about their child's medical issues and work toward targeted therapies for genetic disorders. The lab 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).

BWF Awards Recognize Young Investigators, Innovative Research

Published on

Jun 18, 2018

in Cornerstone Blog

Drs. Jorge Henao-Mejia, Sarah Henrickson, and Elizabeth Bhoj received highly competitive awards for their game-changing research.

CHOP Clinical Geneticist Wins Trio of Major Awards

Published on

Jun 13, 2018

in Cornerstone Blog

Dr. Elizabeth Bhoj is committed to helping children with rare disorders reach a diagnosis.

In The News: New Syndrome Named, National Honor for Pediatric Oncologist

Published on

Apr 8, 2016

in Cornerstone Blog

Check out the most exciting research news from The Children’s Hospital of Philadelphia this week. From leading a group of international researchers who identified a new syndrome to working on a prestigious panel that will give guidance about ways to advance treatments for children with cancer, CHOP researchers are putting pediatric research in motion.

TBCK Syndrome

This information is intended for families and caregivers of patients with mutations in the TBC1 DOMAIN-CONTAINING KINASE (TBCK) gene, including clinical data, molecular data, management and research options.