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Results for Neurodegenerative Disorder

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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
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
Amy Waldman, MD, MSCE
Amy T. Waldman

Dr. Waldman works to understand metrics to quantify disease burden in acquired and genetic neurologic disorders that affect the white matter of the brain. She also focuses on clinical trial methodology to bring novel therapies to neurodegenerative diseases.

E-mail:
waldman [at] chop.edu
Kevin Bryan
Kevin Bryan

Kevin Bryan is a sophomore undergraduate student at the University of Pennsylvania pursuing a degree in Neuroscience. He is interested in the mechanisms regulating neural regeneration, and the world of neurodegenerative disorders fascinates him. He plans to go to medical school in the future.

E-mail:
bryank1 [at] chop.edu
Sarah Adams
Sarah Adams

Adams joined the Kurre Laboratory in 2022 and is working to understand clonal hematopoiesis in Fanconi Anemia to advance understanding of and treatments for pediatric hematological disorders.

E-mail:
adamss7 [at] chop.edu

CHOP Research Paved Way for First FDA-approved Treatment for Friedreich’s Ataxia

Published on
May 19, 2023
in Cornerstone Blog
CHOP Research Paved Way for First Approved Drug for FA
CHOP research paved the way for the first treatment for Friedreich’s ataxia (FA), an inherited neurodegenerative disease.

Meet the 2023 Distinguished Research Trainee Award Recipients

Published on
May 8, 2023
in Cornerstone Blog
Meet the 2023 Distinguished Research Trainee Award Recipients
Four researchers-in-training at Children’s Hospital of Philadelphia received the 2023 Distinguished Research Trainee Award.

In the News: CHOP at ASGCT, Treatment for Friedreich’s Ataxia, New Nephrology Chief

Published on
Jul 8, 2022
in Cornerstone Blog
In the News
This week’s In the News features ASGCT meeting highlights, our new Nephrology Chief, and more.

Introducing BrainChart: A Benchmark Tool for Brain Growth

Published on
Apr 11, 2022
in Cornerstone Blog
Introducing BrainChart: A Benchmark Tool for Brain Growth
BrainChart aggregates brain imaging data to provide benchmarks for brain growth.

‘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 (3)
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Organizations

  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (10)
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In this section

Filter By

  • Principal Investigator / Faculty (3)
  • Researcher / Lab Personnel (2)

Organizations

  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (10)
  • Department of Pathology and Laboratory Medicine (6)
  • Department of Pediatrics (5)
  • Division of Neurology (5)
  • Division of Human Genetics (4)
  • Friedreich’s Ataxia Center of Excellence (4)
  • Akizu Laboratory (3)
  • Center for Applied Genomics (3)
  • Bhoj Laboratory (2)
  • Center for Injury Research and Prevention (2)
  • Center for Mitochondrial and Epigenomic Medicine (2)
  • Department of Radiology (2)
  • Division of Neonatology (2)
  • Office of Academic Training and Outreach Programs (2)
  • Song Laboratory (2)
  • Brain-Gene-Development Lab (1)
  • Center for Autism Research (1)
  • Center for Childhood Cancer Research (1)
  • Center for Violence Prevention (1)
  • Clinical Futures (1)
  • Division of Adolescent Medicine (1)
  • Division of Allergy and Immunology (1)
  • Division of Cardiology (1)
  • Division of Emergency Medicine (1)
  • Division of Hematology (1)
  • Division of Infectious Diseases (1)
  • Division of Nephrology (1)
  • Division of Neuroradiology (1)
  • Division of Oncology (1)
  • Division of Urology (1)
  • Eisch Laboratory (1)
  • Heuckeroth Laboratory (1)
  • Leukodystrophy Center of Excellence (1)
  • Lifespan Brain Institute (1)
  • Lynch Laboratory (1)
  • Minds Matter Concussion Program (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PolicyLab (1)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (1)
  • Shalem Laboratory (1)
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