Results for TBCK Syndrome

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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.

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

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.

‘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.

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.

In the News: Aplastic Anemia, Boricua Mutation, Oligodendroglioma, cWGS Infants

Published on
Oct 1, 2021
in Cornerstone Blog
In the News
This week’s roundup features new partnerships, novel findings, and exciting approaches to diagnosing rare conditions.

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.

LiBI Gathers Experts to Explore How Early Life Influences Neurodevelopment

Published on
Apr 12, 2019
in Cornerstone Blog
LiBI Symposium
LiBI, a unique collaborative effort, bridges the gap between pediatric and adult research to learn how brain and behavior develop over a lifetime.

BWF Awards Recognize Young Investigators, Innovative Research

Published on
Jun 18, 2018
in Cornerstone Blog
Infectious Diseases
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
Elizabeth Bhoj, MD, PhD
Dr. Elizabeth Bhoj is committed to helping children with rare disorders reach a diagnosis.
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