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Results for Neurodegeneration

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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.

Naiara Akizu, PhD
Photo of Naiara Akizu

Dr. Akizu's research focuses on cerebellar ataxias and motoneuron disorders, with the specific goals of uncovering the particularities of these neuronal types, understanding disease mechanisms, and exploring treatment options.

E-mail:
aquizun [at] chop.edu
Beverly L. Davidson, PhD
Photo of Beverly L. Davidson, PhD

Dr. Davidson works to understand the molecular basis of childhood onset neurodegenerative diseases and the development of gene and small molecule therapies for treatment. She also focuses on how noncoding RNAs participate in neural development and neurodegenerative disease processes, and how they can be harnessed for therapies.

E-mail:
davidsonbl [at] chop.edu
David R. Lynch, MD, PhD
David R. Lynch

Dr. Lynch maintains a dynamic program that involves clinical, translational, and basic science research efforts focused on the rare disease Friedreich ataxia.

E-mail:
lynch [at] chop.edu
Struan F.A. Grant, PhD
Photo of Struan F.A. Grant

Dr. Grant uses high-throughput genotyping and sequencing technologies, combined with statistical and bioinformatic approaches, to unravel genomic puzzles related to multiple common complex traits.

E-mail:
grants [at] chop.edu
Qin Wang, PhD
Qin Wang

Dr. Wang is involved in several projects that aim to investigate the pathological function of the novel protein variants identified from neurodevelopmental patients and to explore how to promote functional axon regeneration after traumatic brain injury or neurodegeneration.

E-mail:
wangq3 [at] chop.edu

Neuroregenerative Mechanisms May Protect Against Neurodegenerative Diseases

Published on
Jan 4, 2023
in Cornerstone Blog
Yuanquan Song, PhD
Researchers are studying whether the mechanisms behind neuroregeneration could provide insight to protective mechanisms against neurodegeneration.

Hartwell Awards Fund ‘Innovative, Early-Stage’ Research for Two CHOP Investigators

Published on
May 25, 2022
in Cornerstone Blog
Two CHOP Investigators Receive Hartwell Awards
Elizabeth Bhoj, MD, PhD, and David Hill, MD, PhD, are recipients of a 2021 Individual Biomedical Research Award from The Hartwell Foundation.

‘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.
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In this section

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  • Principal Investigator / Faculty (6)
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Organizations

  • Division of Human Genetics (5)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (5)
  • Department of Pathology and Laboratory Medicine (4)
  • Department of Pediatrics (4)
  • Bhoj Laboratory (3)
  • Center for Applied Genomics (3)
  • Division of Neurology (3)
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  • Division of Neonatology (2)
  • Division of Oncology (2)
  • Ahrens-Nicklas Laboratory (1)
  • Akizu Laboratory (1)
  • Bernt Laboratory (1)
  • Center for Childhood Cancer Research (1)
  • Center for Injury Research and Prevention (1)
  • Center for Mitochondrial and Epigenomic Medicine (1)
  • Center for Violence Prevention (1)
  • Clinical Futures (1)
  • Department of Anesthesiology and Critical Care Medicine (1)
  • Division of Adolescent Medicine (1)
  • Division of Cardiology (1)
  • Division of Infectious Diseases (1)
  • Division of Urology (1)
  • Friedreich’s Ataxia Center of Excellence (1)
  • Minds Matter Concussion Program (1)
  • Office of Academic Training and Outreach Programs (1)
  • Office of Faculty Development (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PolicyLab (1)

In this section

Filter By

  • Principal Investigator / Faculty (6)
  • Research Administration (1)
  • Researcher / Lab Personnel (1)

Organizations

  • Division of Human Genetics (5)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (5)
  • Department of Pathology and Laboratory Medicine (4)
  • Department of Pediatrics (4)
  • Bhoj Laboratory (3)
  • Center for Applied Genomics (3)
  • Division of Neurology (3)
  • Division of Allergy and Immunology (2)
  • Division of Neonatology (2)
  • Division of Oncology (2)
  • Ahrens-Nicklas Laboratory (1)
  • Akizu Laboratory (1)
  • Bernt Laboratory (1)
  • Center for Childhood Cancer Research (1)
  • Center for Injury Research and Prevention (1)
  • Center for Mitochondrial and Epigenomic Medicine (1)
  • Center for Violence Prevention (1)
  • Clinical Futures (1)
  • Department of Anesthesiology and Critical Care Medicine (1)
  • Division of Adolescent Medicine (1)
  • Division of Cardiology (1)
  • Division of Infectious Diseases (1)
  • Division of Urology (1)
  • Friedreich’s Ataxia Center of Excellence (1)
  • Minds Matter Concussion Program (1)
  • Office of Academic Training and Outreach Programs (1)
  • Office of Faculty Development (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PolicyLab (1)
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