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Results for Mitochondrial Dysfunction

1 - 4 of 4

Scott L. Weiss, MD, MSCE
Scott L. Weiss

Dr. Weiss' research focuses on epidemiology of pediatric sepsis and mitochondrial dysfunction in sepsis-associated organ injury. The driving hypothesis for his research is that alterations in mitochondrial bioenergetics contribute to organ injury and immune dysregulation in a subset of children with sepsis.

E-mail:
weisss [at] chop.edu
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.

Itzhak Nissim, PhD

Dr. Nissim is a biochemist and a pioneer in the application of stable isotopes, mass spectrometry, and nuclear magnetic resonance to study metabolome and fluxome and their coupling to genome in normal and disease states. His long-standing interest focuses on understanding the cause, mechanisms, and outcome of metabolic disorders.

E-mail:
nissim [at] chop.edu
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Related Departments

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

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