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Results for Mitochondrial Disorders

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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
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.

Todd J. Kilbaugh, MD
Todd J. Kilbaugh

Todd Kilbaugh, MD, is an anesthesiologist and pediatric intensivist with the Department of Anesthesiology and Critical Care Medicine, medical director of the ECMO Center, and director of the Resuscitation Science Center at Children's Hospital of Philadelphia. 

E-mail:
kilbaugh [at] chop.edu
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
Harry Ischiropoulos, PhD
Haralambos Ischiropoulos

Dr. Ischiropoulos's research objectives are to develop and test novel therapeutics for long-chain fatty acid oxidation (LCFA) disorders, a collection of inherited metabolic diseases that affect the heart, liver and muscle. A second area of interest is the resolution of the nitric oxide signaling pathways at the proteome level in the cardiovascular and neuronal systems.

E-mail:
ischirop [at] pennmedicine.upenn.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
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
Fabricio Goncalves, MD
Fabricio Goncalves

Dr. Goncalves’ research focuses on pediatric primary mitochondrial disorders, in particular on quantitative magnetic resonance spectroscopy and absolute quantitative measurement of brain metabolites with LCModel.

E-mail:
goncalvesf [at] chop.edu
Carlo Castruccio Castracani, PhD
Carlo Castruccio Castracani

Dr. Castracani’s research work is focused on the most common form of X-linked sideroblastic anemia which results from mutations in the ALAS2 gene and inhibits normal heme biosynthesis.

E-mail:
castruccic [at] chop.edu

CHOP Research Poster Day and Scientific Symposium: Making the Microbiome Less Mysterious

Published on
May 15, 2023
in Cornerstone Blog
Making the Microbiome Less Mysterious
This year’s Poster Day and Scientific Symposium featured all manners of bugs, breakthroughs, and big discoveries.
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In this section

Filter By

  • Principal Investigator / Faculty (7)
  • Researcher / Lab Personnel (2)

Organizations

  • Mitochondrial Medicine (26)
  • Center for Mitochondrial and Epigenomic Medicine (25)
  • Department of Pediatrics (14)
  • Center for Autism Research (11)
  • Center for Injury Research and Prevention (11)
  • PolicyLab (11)
  • Department of Pathology and Laboratory Medicine (9)
  • Division of Human Genetics (8)
  • Division of Neurology (8)
  • Division of Hematology (6)
  • Anderson Laboratory (5)
  • Division of Allergy and Immunology (5)
  • Division of Endocrinology and Diabetes (5)
  • Division of Infectious Diseases (5)
  • Lifespan Brain Institute (5)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (5)
  • Center for Applied Genomics (4)
  • Center for Childhood Cancer Research (4)
  • Clinical Futures (4)
  • Department of Anesthesiology and Critical Care Medicine (4)
  • Department of Biomedical and Health Informatics (4)
  • Division of Oncology (4)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (4)
  • Center for Spatial and Functional Genomics (3)
  • Department of Radiology (3)
  • Division of Neonatology (3)
  • Division of Rheumatology (3)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (3)
  • Friedreich’s Ataxia Center of Excellence (3)
  • Minds Matter Concussion Program (3)
  • Center for Data-Driven Discovery in Biomedicine (2)
  • Congenital Hyperinsulinism Research Laboratory (2)
  • Division of Adolescent Medicine (2)
  • Division of Nephrology (2)
  • Division of Orthopaedic Surgery (2)
  • Division of Protective Immunity (2)
  • Office of Academic Training and Outreach Programs (2)
  • Advancement of Hyperinsulinism Care and Research (1)
  • Aquatic Zebrafish Core (1)
  • Cancer Immunotherapy (CAR-T) (1)
  • Center for Pediatric Airway Disorders (1)
  • Center for Violence Prevention (1)
  • Children’s Oncology Group (1)
  • CHOP Cardiovascular Institute (1)
  • CHOP Microbiome Center (1)
  • Clinical Vector Core (1)
  • Comprehensive Bone Marrow Failure Center (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 Gastroenterology, Hepatology, and Nutrition (1)
  • Division of General Pediatrics (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Feudtner Laboratory (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • Inflammatory Bowel Disease Center (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Leukodystrophy Center of Excellence (1)
  • Lurie Family Foundations MEG Imaging Center (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PEDSnet (1)
  • Penn-CHOP Kidney Innovation Center (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Rivella Laboratory (1)
  • Roberts Individualized Medical Genetics Center (1)
  • Romberg Laboratory (1)
  • Sleep Center (1)
  • The Resuscitation Science Center (1)
  • Tsui Laboratory (1)
  • Vanderver Laboratory (1)
  • Wallace Laboratory (1)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (1)

In this section

Filter By

  • Principal Investigator / Faculty (7)
  • Researcher / Lab Personnel (2)

Organizations

  • Mitochondrial Medicine (26)
  • Center for Mitochondrial and Epigenomic Medicine (25)
  • Department of Pediatrics (14)
  • Center for Autism Research (11)
  • Center for Injury Research and Prevention (11)
  • PolicyLab (11)
  • Department of Pathology and Laboratory Medicine (9)
  • Division of Human Genetics (8)
  • Division of Neurology (8)
  • Division of Hematology (6)
  • Anderson Laboratory (5)
  • Division of Allergy and Immunology (5)
  • Division of Endocrinology and Diabetes (5)
  • Division of Infectious Diseases (5)
  • Lifespan Brain Institute (5)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (5)
  • Center for Applied Genomics (4)
  • Center for Childhood Cancer Research (4)
  • Clinical Futures (4)
  • Department of Anesthesiology and Critical Care Medicine (4)
  • Department of Biomedical and Health Informatics (4)
  • Division of Oncology (4)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (4)
  • Center for Spatial and Functional Genomics (3)
  • Department of Radiology (3)
  • Division of Neonatology (3)
  • Division of Rheumatology (3)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (3)
  • Friedreich’s Ataxia Center of Excellence (3)
  • Minds Matter Concussion Program (3)
  • Center for Data-Driven Discovery in Biomedicine (2)
  • Congenital Hyperinsulinism Research Laboratory (2)
  • Division of Adolescent Medicine (2)
  • Division of Nephrology (2)
  • Division of Orthopaedic Surgery (2)
  • Division of Protective Immunity (2)
  • Office of Academic Training and Outreach Programs (2)
  • Advancement of Hyperinsulinism Care and Research (1)
  • Aquatic Zebrafish Core (1)
  • Cancer Immunotherapy (CAR-T) (1)
  • Center for Pediatric Airway Disorders (1)
  • Center for Violence Prevention (1)
  • Children’s Oncology Group (1)
  • CHOP Cardiovascular Institute (1)
  • CHOP Microbiome Center (1)
  • Clinical Vector Core (1)
  • Comprehensive Bone Marrow Failure Center (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 Gastroenterology, Hepatology, and Nutrition (1)
  • Division of General Pediatrics (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Feudtner Laboratory (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • Inflammatory Bowel Disease Center (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Leukodystrophy Center of Excellence (1)
  • Lurie Family Foundations MEG Imaging Center (1)
  • Ortiz-Gonzalez Laboratory (1)
  • PEDSnet (1)
  • Penn-CHOP Kidney Innovation Center (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Rivella Laboratory (1)
  • Roberts Individualized Medical Genetics Center (1)
  • Romberg Laboratory (1)
  • Sleep Center (1)
  • The Resuscitation Science Center (1)
  • Tsui Laboratory (1)
  • Vanderver Laboratory (1)
  • Wallace Laboratory (1)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (1)
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