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Results for Mitochondrial Dysfunction

1 - 4 of 4

Marni J. Falk, MD
Marni J. Falk

Dr. Falk is a Clinical Geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.

E-mail:
falkm [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.

Eric D. Marsh, MD, PhD
Eric D. Marsh

Dr. Marsh's research program focuses on understanding how changes in brain development lead to epilepsy, intellectual disability, and autism. He combines molecular and physiological tools in mouse models to ask questions about the interaction of normal development with single gene mutations to determine how the brain responds to perturbations in development.

E-mail:
marshe [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
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Related Departments

  • (-) Division of Neurology (3)
  • (-) Friedreich’s Ataxia Center of Excellence (1)
  • (-) Marsh Laboratory (1)
  • (-) Mitochondrial Medicine (1)
  • (-) Mitochondrial Medicine Research Group Laboratory (1)
  • (-) Pediatric Neurodegenerative Biorepository (1)
  • (-) REN001 for Adults with Primary Mitochondrial Myopathy (1)
  • Department of Pediatrics (4)
  • Center for Mitochondrial and Epigenomic Medicine (2)
  • Clinical Trials Research Affinity Group (1)
  • DCA Trial in PDC Deficiency (1)
  • Department of Anesthesiology and Critical Care Medicine (1)
  • Division of Human Genetics (1)
  • Friedreich Ataxia Clinical Outcomes Measures (1)
  • IDDRC Administrative Core (1)
  • IDDRC Genomics and Data Integration Core (1)
  • IDDRC Neuroimaging and Neurocircuitry Core (1)
  • Leigh Syndrome Natural History Study (1)
  • Lynch Laboratory (1)
  • MELAS Study (1)
  • Mitochondria Research Affinity Group (1)
  • Nissim Laboratory (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PRagMatic Pediatric Trial of Balanced vs. nOrmaL Saline FlUid in Sepsis (PRoMPT BOLUS) (1)
  • Rett Syndrome Clinical Research Center of Excellence (1)
  • TBCK Syndrome (1)

In this section

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  • Principal Investigator / Faculty (4)
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