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Results for Neurodegenerative Disorder

1 - 10 of 44

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

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.

In The News: Kidney Stones, Low-risk Deliveries, SARS-CoV-2 Seroprevalence, MIS-C, Leigh Syndrome

Published on
Jan 21, 2022
in Cornerstone Blog
In The News: Kidney Stones, Low-risk Deliveries, SARS-CoV-2 Seroprevalence, MIS-C, Leigh Syndrome
Learn about novel findings and new funding from our Children’s Hospital of Philadelphia researchers.

‘Embracing Diversity in Science:’ Q&A With Lorianna Colon, PhD, Diversity Fellow

Published on
Dec 6, 2021
in Cornerstone Blog
Lorianna Colon Featured Image
A new Diversity Fellow, Dr. Colon studies early life models of neuropsychiatric 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.

Faculty Spotlight: Naiara Akizu Lopez, PhD, Merges Research Passions

Published on
Aug 31, 2021
in Cornerstone Blog
Naiara Akizu Lopez, PhD, Merges Research Passions
Our August Faculty Spotlight scientist, Naiara Akizu Lopez, PhD, studies the genetic and epigenetic mechanisms of neurologic disorders in children.

Faculty Spotlight: Delving Deep Into Neural Function With Yuanquan Song, PhD

Published on
Jul 26, 2021
in Cornerstone Blog
Delving Deep Into Neural Function With Yuanquan Song, PhD
A scientist in our Department of Pathology and Laboratory Medicine, Dr. Song discusses mentorship and his long-term research goals.
1 - 10 of 44

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In this section

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  • Principal Investigator / Faculty (3)

Organizations

  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (9)
  • Department of Pathology and Laboratory Medicine (6)
  • Department of Pediatrics (5)
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  • Division of Neurology (4)
  • Akizu Laboratory (3)
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  • Office of Academic Training and Outreach Programs (2)
  • Song Laboratory (2)
  • Brain-Gene-Development Lab (1)
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  • Center for Pediatric Clinical Effectiveness (1)
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  • Eisch Laboratory (1)
  • Heuckeroth Laboratory (1)
  • Leukodystrophy Center of Excellence (1)
  • Lifespan Brain Institute (1)
  • Minds Matter Concussion Program (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PolicyLab (1)
  • Shalem Laboratory (1)

In this section

Filter By

  • Principal Investigator / Faculty (3)

Organizations

  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (9)
  • Department of Pathology and Laboratory Medicine (6)
  • Department of Pediatrics (5)
  • Division of Human Genetics (4)
  • Division of Neurology (4)
  • Akizu Laboratory (3)
  • Center for Applied Genomics (3)
  • Bhoj Laboratory (2)
  • Center for Mitochondrial and Epigenomic Medicine (2)
  • Department of Radiology (2)
  • Division of Neonatology (2)
  • Friedreich’s Ataxia Center of Excellence (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 Injury Research and Prevention (1)
  • Center for Pediatric Clinical Effectiveness (1)
  • Center for Violence Prevention (1)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (1)
  • Division of Adolescent Medicine (1)
  • Division of Allergy and Immunology (1)
  • Division of Cardiology (1)
  • Division of Hematology (1)
  • Division of Infectious Diseases (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)
  • Minds Matter Concussion Program (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PolicyLab (1)
  • Shalem Laboratory (1)
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