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Results for Metabolic Disorders

1 - 10 of 128

Rebecca C. Ahrens-Nicklas, MD, PhD
Rebecca C. Ahrens-Nicklas, MD, PhD

Dr. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.

E-mail:
ahrensnicklasr [at] chop.edu
Can Ficicioglu, MD, PhD
Can Ficicioglu
E-mail:
ficicioglu [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
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
Charles A. Stanley, MD
Charles A. Stanley Headshot

Dr. Stanley’s lab has identified many of the genes and syndromes associated with congenital hyperinsulinism including ABCC8, GCK, GLUD1, and Turner and Beckwith syndromes. Working with clinical and rodent model studies, his lab team has identified distinctive phenotypes of these disorders, including diazoxide unresponsiveness, leucine sensitivity, and protein sensitivity. Dr. Stanley continues to seek new diagnostic and treatment paradigms for infants with acquired and genetic disorders of hyperinsulinism.

E-mail:
stanleyc [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
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
Rui Xiao, PhD
Rui Xiao

Dr. Xiao’s research focuses primarily on methodology and applications in clinical and genetic studies. She has extensive collaborative experience in developmental disabilities, metabolic disorders, EEG monitoring for seizure screening, chronic kidney disease, and juvenile spondyloarthritis.

E-mail:
xiaor [at] chop.edu
Sogol Mostoufi-Moab, MD, MSCE
Sogol Mostoufi-Moab Headshot

Dr. Mostoufi-Moab's clinical and research program is focused on endocrine late effects after childhood cancer therapy. She has unique dual training in pediatric endocrinology and oncology with a master's degree in clinical epidemiology. The goal of her research program is to pursue a mechanistic understanding of metabolic and endocrine disorders that occur due to cancer therapy.

E-mail:
moab [at] chop.edu
Fanxin Long, PhD
Fanxin Long

Bone disorders exact a considerable toll on human health in both children and adults. Dr. Long seeks to understand the fundamental mechanisms underlying both normal skeletal development and the pathophysiology of bone diseases. His current research includes studies of skeletal stem cells and progenitors, metabolic regulation of bone cells, and the integration of bone and whole-body metabolism.

E-mail:
longf1 [at] chop.edu
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In this section

Filter By

  • Principal Investigator / Faculty (17)
  • Researcher / Lab Personnel (1)

Organizations

  • Center for Mitochondrial and Epigenomic Medicine (13)
  • Mitochondrial Medicine (13)
  • Division of Endocrinology and Diabetes (12)
  • Division of Human Genetics (12)
  • Department of Pediatrics (11)
  • PolicyLab (10)
  • Department of Pathology and Laboratory Medicine (8)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (8)
  • Center for Autism Research (7)
  • Center for Applied Genomics (5)
  • Center for Injury Research and Prevention (5)
  • Department of Anesthesiology and Critical Care Medicine (5)
  • Advancement of Hyperinsulinism Care and Research (4)
  • Center for Pediatric Clinical Effectiveness (4)
  • Department of Biomedical and Health Informatics (4)
  • Congenital Hyperinsulinism Research Laboratory (3)
  • De León-Crutchlow Laboratory (3)
  • Division of Allergy and Immunology (3)
  • Division of Hematology (3)
  • Friedreich’s Ataxia Center of Excellence (3)
  • Center for Childhood Cancer Research (2)
  • Center for Computational and Genomic Medicine (2)
  • Center for Violence Prevention (2)
  • Department of Surgery (2)
  • Division of Infectious Diseases (2)
  • Division of Neonatology (2)
  • Division of Neurology (2)
  • Division of Oncology (2)
  • Levine Laboratory (2)
  • PennCHOP Microbiome Program (2)
  • Ahrens-Nicklas Laboratory (1)
  • Center for Applied Genomics Laboratory (1)
  • CHOP Microbiome Center (1)
  • Chronic Kidney Disease in Children Study (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • Davidson Laboratory (1)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (1)
  • Department of Radiology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Fetal Imaging (1)
  • Division of Gastroenterology, Hepatology, and Nutrition (1)
  • Division of Nephrology (1)
  • Division of Protective Immunity (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Division of Rheumatology (1)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Lifespan Brain Institute (1)
  • Metabolism, Nutrition, and Physical Development Research Affinity Group (1)
  • Minds Matter Concussion Program (1)
  • Neuroscience Research Affinity Group (1)
  • Nissim Laboratory (1)
  • Pediatric Research Consortium (1)
  • Rivella Laboratory (1)
  • Roberts Individualized Medical Genetics Center (1)
  • Romberg Laboratory (1)
  • Spatial and Functional Genomics Collaborative (1)
  • Stress Neurobiology Program (1)
  • Translational Research Program in Pediatric Orthopaedics (1)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (1)

In this section

Filter By

  • Principal Investigator / Faculty (17)
  • Researcher / Lab Personnel (1)

Organizations

  • Center for Mitochondrial and Epigenomic Medicine (13)
  • Mitochondrial Medicine (13)
  • Division of Endocrinology and Diabetes (12)
  • Division of Human Genetics (12)
  • Department of Pediatrics (11)
  • PolicyLab (10)
  • Department of Pathology and Laboratory Medicine (8)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (8)
  • Center for Autism Research (7)
  • Center for Applied Genomics (5)
  • Center for Injury Research and Prevention (5)
  • Department of Anesthesiology and Critical Care Medicine (5)
  • Advancement of Hyperinsulinism Care and Research (4)
  • Center for Pediatric Clinical Effectiveness (4)
  • Department of Biomedical and Health Informatics (4)
  • Congenital Hyperinsulinism Research Laboratory (3)
  • De León-Crutchlow Laboratory (3)
  • Division of Allergy and Immunology (3)
  • Division of Hematology (3)
  • Friedreich’s Ataxia Center of Excellence (3)
  • Center for Childhood Cancer Research (2)
  • Center for Computational and Genomic Medicine (2)
  • Center for Violence Prevention (2)
  • Department of Surgery (2)
  • Division of Infectious Diseases (2)
  • Division of Neonatology (2)
  • Division of Neurology (2)
  • Division of Oncology (2)
  • Levine Laboratory (2)
  • PennCHOP Microbiome Program (2)
  • Ahrens-Nicklas Laboratory (1)
  • Center for Applied Genomics Laboratory (1)
  • CHOP Microbiome Center (1)
  • Chronic Kidney Disease in Children Study (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • Davidson Laboratory (1)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (1)
  • Department of Radiology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Fetal Imaging (1)
  • Division of Gastroenterology, Hepatology, and Nutrition (1)
  • Division of Nephrology (1)
  • Division of Protective Immunity (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Division of Rheumatology (1)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Lifespan Brain Institute (1)
  • Metabolism, Nutrition, and Physical Development Research Affinity Group (1)
  • Minds Matter Concussion Program (1)
  • Neuroscience Research Affinity Group (1)
  • Nissim Laboratory (1)
  • Pediatric Research Consortium (1)
  • Rivella Laboratory (1)
  • Roberts Individualized Medical Genetics Center (1)
  • Romberg Laboratory (1)
  • Spatial and Functional Genomics Collaborative (1)
  • Stress Neurobiology Program (1)
  • Translational Research Program in Pediatric Orthopaedics (1)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (1)
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