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Results for Neurogenetic Disorders

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Angela N. Viaene, MD, PhD
Angela N. Viaene

Dr. Viaene's research interests include thalamocortical projections, CNS tumors, neurogenetic disorders, and hypoxic/ischemic brain injury.

E-mail:
viaenea [at] chop.edu
Rebecca C. Ahrens-Nicklas, MD, PhD
Rebecca C. Ahrens-Nicklas, MD, PhD

Dr. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.

E-mail:
ahrensnicklasr [at] chop.edu
Pedro Gonzalez-Alegre, MD, PhD
Dr. Gonzalez-Alegre’s long-range research goal is to advance the application of precision medicine in the neurology clinic. His research focus revolves around genetic disorders that affect the brain, spanning from the diagnosis of novel genetic disease in the clinic to the identification of novel molecular targets using disease models and the design of early-phase human clinical trials.

Dr. Gonzalez-Alegre's long-range research goal is to advance the application of precision medicine in the neurology clinic. His research focus revolves around genetic disorders that affect the brain, spanning from the diagnosis of novel genetic disease in the clinic to the identification of novel molecular targets using disease models and the design of early-phase human clinical trials.

E-mail:
gonzalezap [at] chop.edu
Ana G. Cristancho, MD, PhD
Ana G. Cristancho

Dr. Cristancho is a child neurologist specializing in Fetal and Neonatal Neurology. Her research focuses on understanding the mechanisms that regulate the extent of disabilities some kids have after prenatal and neonatal brain injury. Her goal is to help develop novel therapeutic interventions.

E-mail:
cristanchoa [at] chop.edu
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
Katherine L. Helbig, MS, LCGC
Katherine L. Helbig

Katherine Helbig’s research focuses on identifying new genetic causes of epilepsy and understanding how genetic variation leads to seizures. An additional research focus is improving access to genetic services for people with epilepsy and investigating the impact of genetics on health outcomes.

E-mail:
helbigk [at] chop.edu

In the News: Foundational Gift, Gates Grant, Community-engaged Research

Published on
Feb 17, 2023
in Cornerstone Blog
In the News: Foundational Gift, Community Partnerships
In this news roundup, learn how CHOP researchers are advancing research for neurological diseases and engaging in community collaborative research.

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.

In The News: Food Allergies, Telemedicine, Parkway Run, Fungal Disease, Sickle Cell Documentary

Published on
Sep 30, 2022
in Cornerstone Blog
In the News
Learn about novel findings and new grants from Children’s Hospital of Philadelphia researchers.

In the News: Impact Report, FDA Approval, PRESERVE Town Hall, ‘Immature Neurons,’ Lung Disease

Published on
Aug 5, 2022
in Cornerstone Blog
In the News
This week’s In the News highlights PolicyLab’s second annual Impact Report, an FDA approval based on CHOP research, and a link between daycare and chronic lung disease effects in premature infants.
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In this section

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  • Principal Investigator / Faculty (5)
  • Researcher / Lab Personnel (1)

Organizations

  • Division of Neurology (9)
  • Department of Pediatrics (7)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (7)
  • PolicyLab (6)
  • Center for Injury Research and Prevention (4)
  • Center for Autism Research (3)
  • Center for Childhood Cancer Research (3)
  • Division of Human Genetics (3)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (3)
  • Center for Applied Genomics (2)
  • Department of Pathology and Laboratory Medicine (2)
  • Department of Radiology (2)
  • Division of Allergy and Immunology (2)
  • Division of Emergency Medicine (2)
  • Division of Oncology (2)
  • Ahrens-Nicklas Laboratory (1)
  • Akizu Laboratory (1)
  • Brain-Gene-Development Lab (1)
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  • Division of Neonatology (1)
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  • Division of Neurosurgery (1)
  • Division of Pulmonary and Sleep Medicine (1)
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  • Goldberg Laboratory (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Jill and Mark Fishman Center for Lymphatic Disorders (1)
  • Leukodystrophy Center of Excellence (1)
  • Lifespan Brain Institute (1)
  • Lurie Family Foundations MEG Imaging Center (1)
  • Mitochondrial Medicine (1)
  • Neuroscience Research Affinity Group (1)
  • Romberg Laboratory (1)

In this section

Filter By

  • Principal Investigator / Faculty (5)
  • Researcher / Lab Personnel (1)

Organizations

  • Division of Neurology (9)
  • Department of Pediatrics (7)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (7)
  • PolicyLab (6)
  • Center for Injury Research and Prevention (4)
  • Center for Autism Research (3)
  • Center for Childhood Cancer Research (3)
  • Division of Human Genetics (3)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (3)
  • Center for Applied Genomics (2)
  • Department of Pathology and Laboratory Medicine (2)
  • Department of Radiology (2)
  • Division of Allergy and Immunology (2)
  • Division of Emergency Medicine (2)
  • Division of Oncology (2)
  • Ahrens-Nicklas Laboratory (1)
  • Akizu Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Cancer Immunotherapy (CAR-T) (1)
  • Center for Data-Driven Discovery in Biomedicine (1)
  • Center for Mitochondrial and Epigenomic Medicine (1)
  • Clinical Futures (1)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (1)
  • Division of Cardiology (1)
  • Division of Hematology (1)
  • Division of Infectious Diseases (1)
  • Division of Neonatology (1)
  • Division of Neuroradiology (1)
  • Division of Neurosurgery (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Division of Urology (1)
  • Goldberg Laboratory (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Jill and Mark Fishman Center for Lymphatic Disorders (1)
  • Leukodystrophy Center of Excellence (1)
  • Lifespan Brain Institute (1)
  • Lurie Family Foundations MEG Imaging Center (1)
  • Mitochondrial Medicine (1)
  • Neuroscience Research Affinity Group (1)
  • Romberg Laboratory (1)
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