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Results for Mitochondrial Disease

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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.

Douglas C. Wallace, PhD
Douglas C. Wallace

Dr. Wallace is a geneticist and evolutionary biologist who founded the field of mitochondrial medicine 40 years ago. He investigates the role of mitochondria in human evolution, health, and disease.

E-mail:
wallaced1 [at] chop.edu
Shana E. McCormack, MD, MTR
Shana E. McCormack

Dr. McCormack investigates the intersection of neuroendocrinology and metabolism. Her translational research program involves two areas. The first involves studying those with genetic disorders, including primary mitochondrial diseases and Friedreich's ataxia, with characterized risk for diabetes mellitus. Second, Dr. McCormack focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension.

E-mail:
mccormacks1 [at] chop.edu
Liming Pei, PhD
Liming Pei

Dr. Pei's research aims to understand the molecular underpinnings of cardiac remodeling associated with cardiomyopathy and heart failure. He is particularly interested in two areas of cardiac remodeling: metabolic reprogramming, and secretion of heart-derived hormones to communicate with other organs.

E-mail:
peil [at] chop.edu
Dah-Jyuu Wang, PhD
Dah-Jyuu Wang

Dr. Wang works on biomarker identification using multiparametric magnetic resonance imaging and homo- and hetero-nuclear spectroscopy techniques for pediatric disease research including  tumors, iron overload, cystic fibrosis, muscular dystrophy, autism, mitochondrial, Gaucher’s, and Canavan’s diseases.

E-mail:
wangd [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
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

Preclinical Study Shows Combination of Vitamins, Supplements May Benefit Mitochondrial Disease

Published on
Mar 26, 2021
in Cornerstone Blog
Trio of Supplements May Be Effective in Mitochondrial Disease
A combination of vitamins and supplements appears to be beneficial in treating mitochondrial disease, which has no approved treatment.

CHOP Researchers Find Effective Combination of Therapies for Managing Mitochondrial Diseases

Published on
Mar 2, 2021
in Press Releases
Study is first to demonstrate how specific combination therapy may be beneficial to patients with mitochondrial respiratory chain disorders.
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In this section

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  • Principal Investigator / Faculty (8)

Organizations

  • Center for Mitochondrial and Epigenomic Medicine (34)
  • Mitochondrial Medicine (24)
  • Center for Injury Research and Prevention (14)
  • Department of Pediatrics (13)
  • PolicyLab (12)
  • Center for Autism Research (7)
  • Division of Human Genetics (6)
  • Department of Biomedical and Health Informatics (5)
  • Division of Neurology (5)
  • Center for Applied Genomics (4)
  • Center for Childhood Cancer Research (4)
  • Center for Pediatric Clinical Effectiveness (4)
  • Department of Anesthesiology and Critical Care Medicine (4)
  • Office of Academic Training and Outreach Programs (4)
  • Division of Allergy and Immunology (3)
  • Division of Endocrinology and Diabetes (3)
  • Division of Infectious Diseases (3)
  • Friedreich’s Ataxia Center of Excellence (3)
  • Cancer Immunotherapy (CAR-T) (2)
  • Center for Data-Driven Discovery in Biomedicine (2)
  • Department of Child and Adolescent Psychiatry (2)
  • Department of Pathology and Laboratory Medicine (2)
  • Department of Radiology (2)
  • Division of Adolescent Medicine (2)
  • Division of Hematology (2)
  • Jill and Mark Fishman Center for Lymphatic Disorders (2)
  • Lifespan Brain Institute (2)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (2)
  • Roberts Individualized Medical Genetics Center (2)
  • Advancement of Hyperinsulinism Care and Research (1)
  • Aquatic Zebrafish Core (1)
  • Center for Child Injury Prevention Studies (1)
  • Center for Computational and Genomic Medicine (1)
  • Center for Pediatric Airway Disorders (1)
  • Children’s Oncology Group (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Division of Cancer Pathobiology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Emergency Medicine (1)
  • Division of Gastroenterology, Hepatology, and Nutrition (1)
  • Division of General Pediatrics (1)
  • Division of Neurosurgery (1)
  • Division of Oncology (1)
  • Division of Ophthalmology (1)
  • Division of Orthopaedic Surgery (1)
  • Division of Rheumatology (1)
  • Feudtner Laboratory (1)
  • Kilbaugh Laboratory (1)
  • Leukodystrophy Center of Excellence (1)
  • mHealth Research Affinity Group (1)
  • Mitochondria Research Affinity Group (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PEDSnet (1)
  • PennCHOP Microbiome Program (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Sleep Center (1)
  • Spatial and Functional Genomics Research Affinity Group (1)
  • Vanderver Laboratory (1)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (1)

In this section

Filter By

  • Principal Investigator / Faculty (8)

Organizations

  • Center for Mitochondrial and Epigenomic Medicine (34)
  • Mitochondrial Medicine (24)
  • Center for Injury Research and Prevention (14)
  • Department of Pediatrics (13)
  • PolicyLab (12)
  • Center for Autism Research (7)
  • Division of Human Genetics (6)
  • Department of Biomedical and Health Informatics (5)
  • Division of Neurology (5)
  • Center for Applied Genomics (4)
  • Center for Childhood Cancer Research (4)
  • Center for Pediatric Clinical Effectiveness (4)
  • Department of Anesthesiology and Critical Care Medicine (4)
  • Office of Academic Training and Outreach Programs (4)
  • Division of Allergy and Immunology (3)
  • Division of Endocrinology and Diabetes (3)
  • Division of Infectious Diseases (3)
  • Friedreich’s Ataxia Center of Excellence (3)
  • Cancer Immunotherapy (CAR-T) (2)
  • Center for Data-Driven Discovery in Biomedicine (2)
  • Department of Child and Adolescent Psychiatry (2)
  • Department of Pathology and Laboratory Medicine (2)
  • Department of Radiology (2)
  • Division of Adolescent Medicine (2)
  • Division of Hematology (2)
  • Jill and Mark Fishman Center for Lymphatic Disorders (2)
  • Lifespan Brain Institute (2)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (2)
  • Roberts Individualized Medical Genetics Center (2)
  • Advancement of Hyperinsulinism Care and Research (1)
  • Aquatic Zebrafish Core (1)
  • Center for Child Injury Prevention Studies (1)
  • Center for Computational and Genomic Medicine (1)
  • Center for Pediatric Airway Disorders (1)
  • Children’s Oncology Group (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Division of Cancer Pathobiology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Emergency Medicine (1)
  • Division of Gastroenterology, Hepatology, and Nutrition (1)
  • Division of General Pediatrics (1)
  • Division of Neurosurgery (1)
  • Division of Oncology (1)
  • Division of Ophthalmology (1)
  • Division of Orthopaedic Surgery (1)
  • Division of Rheumatology (1)
  • Feudtner Laboratory (1)
  • Kilbaugh Laboratory (1)
  • Leukodystrophy Center of Excellence (1)
  • mHealth Research Affinity Group (1)
  • Mitochondria Research Affinity Group (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PEDSnet (1)
  • PennCHOP Microbiome Program (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Sleep Center (1)
  • Spatial and Functional Genomics Research Affinity Group (1)
  • Vanderver Laboratory (1)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (1)
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