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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
Will Bailis, PhD
Will Bailis

Dr. Bailis aims to understand how metabolism underlies immunology and disease, by controlling the biochemistry of cells and tissues. His lab does so using in vitro and in vivo CRISPR engineering of primary human and mouse immune cells, with the goal of developing diet and metabolite based therapies.

E-mail:
bailisw [at] chop.edu
Daniel P. Kelly, MD
Daniel P. Kelly

Dr. Kelly’s research career began with deciphering the genetic basis of inborn errors in metabolism in children, followed by a series of breakthrough discoveries relevant to the diagnosis and treatment of common forms of heart failure in the general population.

E-mail:
dankelly [at] pennmedicine.upenn.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
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In this section

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  • Principal Investigator / Faculty (10)

Organizations

  • Center for Mitochondrial and Epigenomic Medicine (43)
  • Mitochondrial Medicine (35)
  • Department of Pediatrics (19)
  • Center for Injury Research and Prevention (17)
  • Division of Human Genetics (13)
  • PolicyLab (12)
  • Center for Autism Research (10)
  • Division of Neurology (10)
  • Department of Pathology and Laboratory Medicine (9)
  • Department of Biomedical and Health Informatics (7)
  • Division of Infectious Diseases (7)
  • Center for Applied Genomics (6)
  • Center for Childhood Cancer Research (6)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (6)
  • Department of Anesthesiology and Critical Care Medicine (5)
  • Division of Allergy and Immunology (5)
  • Division of Hematology (5)
  • Division of Oncology (5)
  • Office of Academic Training and Outreach Programs (5)
  • Anderson Laboratory (4)
  • Clinical Futures (4)
  • Department of Radiology (4)
  • Division of Endocrinology and Diabetes (4)
  • Friedreich’s Ataxia Center of Excellence (4)
  • Lifespan Brain Institute (4)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (4)
  • Center for Data-Driven Discovery in Biomedicine (3)
  • Center for Spatial and Functional Genomics (3)
  • Minds Matter Concussion Program (3)
  • Cancer Immunotherapy (CAR-T) (2)
  • Division of Adolescent Medicine (2)
  • Division of Gastroenterology, Hepatology, and Nutrition (2)
  • Division of Nephrology (2)
  • Division of Pulmonary and Sleep Medicine (2)
  • Division of Rheumatology (2)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (2)
  • Jill and Mark Fishman Center for Lymphatic Disorders (2)
  • Roberts Individualized Medical Genetics Center (2)
  • Wallace Laboratory (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)
  • Center for Violence Prevention (1)
  • Children’s Oncology Group (1)
  • Clinical Vector Core (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Congenital Hyperinsulinism Research Laboratory (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • DBHi Bioinformatics (1)
  • Division of Cancer Pathobiology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Emergency Medicine (1)
  • Division of General Pediatrics (1)
  • Division of Neonatology (1)
  • Division of Neurosurgery (1)
  • Division of Ophthalmology (1)
  • Division of Orthopaedic Surgery (1)
  • Division of Protective Immunity (1)
  • Feudtner Laboratory (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • Hamilton Laboratory (1)
  • Inflammatory Bowel Disease Center (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Kilbaugh Laboratory (1)
  • Leukodystrophy Center of Excellence (1)
  • Lurie Family Foundations MEG Imaging Center (1)
  • mHealth Research Affinity Group (1)
  • Mitochondria Research Affinity Group (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PEDSnet (1)
  • Pei Laboratory (1)
  • Penn-CHOP Kidney Innovation Center (1)
  • PennCHOP Microbiome Program (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Romberg Laboratory (1)
  • Sleep Center (1)
  • The Resuscitation Science Center (1)
  • Tsui Laboratory (1)
  • Vanderver Laboratory (1)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (1)

In this section

Filter By

  • Principal Investigator / Faculty (10)

Organizations

  • Center for Mitochondrial and Epigenomic Medicine (43)
  • Mitochondrial Medicine (35)
  • Department of Pediatrics (19)
  • Center for Injury Research and Prevention (17)
  • Division of Human Genetics (13)
  • PolicyLab (12)
  • Center for Autism Research (10)
  • Division of Neurology (10)
  • Department of Pathology and Laboratory Medicine (9)
  • Department of Biomedical and Health Informatics (7)
  • Division of Infectious Diseases (7)
  • Center for Applied Genomics (6)
  • Center for Childhood Cancer Research (6)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (6)
  • Department of Anesthesiology and Critical Care Medicine (5)
  • Division of Allergy and Immunology (5)
  • Division of Hematology (5)
  • Division of Oncology (5)
  • Office of Academic Training and Outreach Programs (5)
  • Anderson Laboratory (4)
  • Clinical Futures (4)
  • Department of Radiology (4)
  • Division of Endocrinology and Diabetes (4)
  • Friedreich’s Ataxia Center of Excellence (4)
  • Lifespan Brain Institute (4)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (4)
  • Center for Data-Driven Discovery in Biomedicine (3)
  • Center for Spatial and Functional Genomics (3)
  • Minds Matter Concussion Program (3)
  • Cancer Immunotherapy (CAR-T) (2)
  • Division of Adolescent Medicine (2)
  • Division of Gastroenterology, Hepatology, and Nutrition (2)
  • Division of Nephrology (2)
  • Division of Pulmonary and Sleep Medicine (2)
  • Division of Rheumatology (2)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (2)
  • Jill and Mark Fishman Center for Lymphatic Disorders (2)
  • Roberts Individualized Medical Genetics Center (2)
  • Wallace Laboratory (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)
  • Center for Violence Prevention (1)
  • Children’s Oncology Group (1)
  • Clinical Vector Core (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Congenital Hyperinsulinism Research Laboratory (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • DBHi Bioinformatics (1)
  • Division of Cancer Pathobiology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Emergency Medicine (1)
  • Division of General Pediatrics (1)
  • Division of Neonatology (1)
  • Division of Neurosurgery (1)
  • Division of Ophthalmology (1)
  • Division of Orthopaedic Surgery (1)
  • Division of Protective Immunity (1)
  • Feudtner Laboratory (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • Hamilton Laboratory (1)
  • Inflammatory Bowel Disease Center (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Kilbaugh Laboratory (1)
  • Leukodystrophy Center of Excellence (1)
  • Lurie Family Foundations MEG Imaging Center (1)
  • mHealth Research Affinity Group (1)
  • Mitochondria Research Affinity Group (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PEDSnet (1)
  • Pei Laboratory (1)
  • Penn-CHOP Kidney Innovation Center (1)
  • PennCHOP Microbiome Program (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Romberg Laboratory (1)
  • Sleep Center (1)
  • The Resuscitation Science Center (1)
  • Tsui Laboratory (1)
  • Vanderver Laboratory (1)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (1)
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