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Results for CHOPS Syndrome

1 - 10 of 281

Ian D. Krantz, MD
Ian D. Krantz Headshot

Dr. Krantz's lab identifies and characterizes the molecular etiology of syndromic and non-syndromic developmental disorders. He has identified genes for several genetic conditions (Cornelia de Lange Syndrome, CHOPS syndrome, Alagille syndrome, hearing loss) implicating critical molecular pathways in human disorders for the first time. He has been at the forefront of studying the integration of genomics into clinical settings.

E-mail:
krantz [at] chop.edu
Jennifer M. Kalish, MD, PhD
Jennifer M. Kalish

Dr. Kalish's research focuses on understanding the molecular and epigenetic mechanisms that contribute to the predisposition to cancer that is characteristic of pediatric patients with rare imprinted gene disorders, including the overgrowth disorder Beckwith-Wiedemann syndrome (BWS).

E-mail:
kalishj [at] chop.edu
Helge Hartung, MD
Helge Hartung

Dr. Hartung is the interim director of CHOP's Sickle Cell Center and the director of innovation of the CuRED Frontier Program. His clinical focus is on bone marrow failure syndromes and sickle cell disease and his research focus is on entrepreneurial science and medical device development.

E-mail:
hartungh1 [at] chop.edu
Lisa R. Young, MD
Lisa R. Young

Dr. Young’s translational research program aims to understand mechanisms underlying interstitial and rare lung diseases and develop new strategies to treat these disorders. Her laboratory focuses on the roles of epithelial cells in alveolar homeostasis, injury, and repair.

E-mail:
youngL5 [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
Robert B. (Brad) Lindell, MD
Robert B. (Brad) Lindell, MD

Dr. Lindell’s research program is centered on the biology of critical illness in children with immune dysfunction. His current translational research is focused on pediatric septic shock and the development of multiple organ dysfunction syndrome (MODS) in critically-ill children.

E-mail:
lindellr [at] chop.edu
Aaron Alexander-Bloch, MD, PhD
Aaron Alexander-Bloch, MD, PhD

Dr. Alexander-Bloch investigates normal brain development and the altered developmental trajectories that lead to mental illness. His multi-disciplinary research integrates brain imaging, genomics and clinical information.

E-mail:
alexanderba [at] chop.edu
Donna Stephenson, MD
Donna Stephenson
Dr. Stephenson is an attending pediatric neurologist and medical director of Operations and Outreach for the Division of Neurology at CHOP. She has special interest in neurobehavioral and neurodevelopmental disorders including ADHD, autism, Tourette syndrome, learning disabilities, and developmental delay.
E-mail:
stephensond [at] chop.edu
Lisa Blaskey, PhD
Lisa Blaskey

Lisa Blaskey, PhD, is a clinical neuropsychologist at the Center for Autism Research and the Lurie Family Foundations MEG Imaging Center. Dr. Blaskey serves as a co-investigator and clinical expert on ASD neuroimaging studies, designing clinical and neuropsychological phenotyping batteries.

E-mail:
blaskey [at] chop.edu
Michael S. Marks, PhD
Michael S. Marks

Dr. Marks investigates the molecular mechanisms underlying the formation of cell type-specific lysosome-related organelles; the assembly, delivery and function of their contents; and how these processes are impacted by genetic diseases.

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

Filter By

  • Principal Investigator / Faculty (16)

Organizations

  • PolicyLab (28)
  • Center for Autism Research (25)
  • Center for Injury Research and Prevention (25)
  • Department of Pediatrics (22)
  • Center for Applied Genomics (20)
  • Division of Human Genetics (19)
  • Division of Infectious Diseases (17)
  • Center for Childhood Cancer Research (15)
  • Division of Neurology (15)
  • Division of Allergy and Immunology (13)
  • Division of Endocrinology and Diabetes (13)
  • Division of Oncology (13)
  • Center for Pediatric Clinical Effectiveness (11)
  • Center for Mitochondrial and Epigenomic Medicine (10)
  • Division of Rheumatology (10)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (10)
  • Department of Anesthesiology and Critical Care Medicine (9)
  • Division of Neonatology (9)
  • Division of Orthopaedic Surgery (9)
  • Mitochondrial Medicine (9)
  • Department of Biomedical and Health Informatics (8)
  • Department of Pathology and Laboratory Medicine (8)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (8)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (7)
  • Division of Hematology (7)
  • Immune Dysregulation Program (7)
  • Lifespan Brain Institute (7)
  • Office of Academic Training and Outreach Programs (7)
  • Roberts Individualized Medical Genetics Center (7)
  • Sleep Center (7)
  • Cancer Immunotherapy (CAR-T) (6)
  • Center for Data-Driven Discovery in Biomedicine (6)
  • Division of Adolescent Medicine (5)
  • Division of Pulmonary and Sleep Medicine (5)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (5)
  • Center for Computational and Genomic Medicine (4)
  • Comprehensive Bone Marrow Failure Center (4)
  • Division of Emergency Medicine (4)
  • Division of Gastroenterology, Hepatology, and Nutrition (4)
  • Leukodystrophy Center of Excellence (4)
  • Advancement of Hyperinsulinism Care and Research (3)
  • Center for Human Phenomic Science (3)
  • Children’s Oncology Group (3)
  • Congenital Hyperinsulinism Research Laboratory (3)
  • Department of Radiology (3)
  • Jill and Mark Fishman Center for Lymphatic Disorders (3)
  • Beckwith-Wiedemann Syndrome Program of Excellence (2)
  • Center for Child Injury Prevention Studies (2)
  • Center for Violence Prevention (2)
  • Clinical Research Support Office (2)
  • De León-Crutchlow Laboratory (2)
  • Department of Surgery (2)
  • Division of Cardiology (2)
  • Division of Plastic and Reconstructive Surgery (2)
  • Division of Protective Immunity (2)
  • Division of Urology (2)
  • Intellectual and Developmental Disabilities Research Center (2)
  • Lurie Family Foundations MEG Imaging Center (2)
  • Minds Matter Concussion Program (2)
  • Romberg Laboratory (2)
  • Translational Research Program in Pediatric Orthopaedics (2)
  • Ackermann Laboratory (1)
  • Bhoj Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Center for Applied Genomics Laboratory (1)
  • Chou Laboratory (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • Developmental Biology Research Affinity Group (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of General Pediatrics (1)
  • Division of Nephrology (1)
  • Division of Neuroradiology (1)
  • Division of Neurosurgery (1)
  • Division of Ophthalmology (1)
  • Fetal Biology and Therapy Research Affinity Group (1)
  • Food Allergy Center (1)
  • Friedreich’s Ataxia Center of Excellence (1)
  • IDDRC Neuroimaging and Neurocircuitry Core (1)
  • Izumi Laboratory (1)
  • Metabolism, Nutrition, and Physical Development Research Affinity Group (1)
  • Metabolomic Core (1)
  • Mitochondria Research Affinity Group (1)
  • Nissim Laboratory (1)
  • Office of Research Compliance (1)
  • Office of Research Safety (1)
  • Office of the Ruth M. Colket Chair Pediatric Nursing Science (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • Pediatric Research Consortium (1)
  • PEDSnet (1)
  • PennCHOP Microbiome Program (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Spatial and Functional Genomics Collaborative (1)
  • Thyroid Center (1)
  • Vanderver Laboratory (1)
  • Wolfe Lab (1)

In this section

Filter By

  • Principal Investigator / Faculty (16)

Organizations

  • PolicyLab (28)
  • Center for Autism Research (25)
  • Center for Injury Research and Prevention (25)
  • Department of Pediatrics (22)
  • Center for Applied Genomics (20)
  • Division of Human Genetics (19)
  • Division of Infectious Diseases (17)
  • Center for Childhood Cancer Research (15)
  • Division of Neurology (15)
  • Division of Allergy and Immunology (13)
  • Division of Endocrinology and Diabetes (13)
  • Division of Oncology (13)
  • Center for Pediatric Clinical Effectiveness (11)
  • Center for Mitochondrial and Epigenomic Medicine (10)
  • Division of Rheumatology (10)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (10)
  • Department of Anesthesiology and Critical Care Medicine (9)
  • Division of Neonatology (9)
  • Division of Orthopaedic Surgery (9)
  • Mitochondrial Medicine (9)
  • Department of Biomedical and Health Informatics (8)
  • Department of Pathology and Laboratory Medicine (8)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (8)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (7)
  • Division of Hematology (7)
  • Immune Dysregulation Program (7)
  • Lifespan Brain Institute (7)
  • Office of Academic Training and Outreach Programs (7)
  • Roberts Individualized Medical Genetics Center (7)
  • Sleep Center (7)
  • Cancer Immunotherapy (CAR-T) (6)
  • Center for Data-Driven Discovery in Biomedicine (6)
  • Division of Adolescent Medicine (5)
  • Division of Pulmonary and Sleep Medicine (5)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (5)
  • Center for Computational and Genomic Medicine (4)
  • Comprehensive Bone Marrow Failure Center (4)
  • Division of Emergency Medicine (4)
  • Division of Gastroenterology, Hepatology, and Nutrition (4)
  • Leukodystrophy Center of Excellence (4)
  • Advancement of Hyperinsulinism Care and Research (3)
  • Center for Human Phenomic Science (3)
  • Children’s Oncology Group (3)
  • Congenital Hyperinsulinism Research Laboratory (3)
  • Department of Radiology (3)
  • Jill and Mark Fishman Center for Lymphatic Disorders (3)
  • Beckwith-Wiedemann Syndrome Program of Excellence (2)
  • Center for Child Injury Prevention Studies (2)
  • Center for Violence Prevention (2)
  • Clinical Research Support Office (2)
  • De León-Crutchlow Laboratory (2)
  • Department of Surgery (2)
  • Division of Cardiology (2)
  • Division of Plastic and Reconstructive Surgery (2)
  • Division of Protective Immunity (2)
  • Division of Urology (2)
  • Intellectual and Developmental Disabilities Research Center (2)
  • Lurie Family Foundations MEG Imaging Center (2)
  • Minds Matter Concussion Program (2)
  • Romberg Laboratory (2)
  • Translational Research Program in Pediatric Orthopaedics (2)
  • Ackermann Laboratory (1)
  • Bhoj Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Center for Applied Genomics Laboratory (1)
  • Chou Laboratory (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • Developmental Biology Research Affinity Group (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of General Pediatrics (1)
  • Division of Nephrology (1)
  • Division of Neuroradiology (1)
  • Division of Neurosurgery (1)
  • Division of Ophthalmology (1)
  • Fetal Biology and Therapy Research Affinity Group (1)
  • Food Allergy Center (1)
  • Friedreich’s Ataxia Center of Excellence (1)
  • IDDRC Neuroimaging and Neurocircuitry Core (1)
  • Izumi Laboratory (1)
  • Metabolism, Nutrition, and Physical Development Research Affinity Group (1)
  • Metabolomic Core (1)
  • Mitochondria Research Affinity Group (1)
  • Nissim Laboratory (1)
  • Office of Research Compliance (1)
  • Office of Research Safety (1)
  • Office of the Ruth M. Colket Chair Pediatric Nursing Science (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • Pediatric Research Consortium (1)
  • PEDSnet (1)
  • PennCHOP Microbiome Program (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Spatial and Functional Genomics Collaborative (1)
  • Thyroid Center (1)
  • Vanderver Laboratory (1)
  • Wolfe Lab (1)
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