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Results for Genetic Disorders

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1 - 10 of 482

Andrew Edmondson, MD, PhD
Andrew C. Edmondson

Dr. Edmondson is an attending physician with the Metabolic Disease Program and the Division of Human Genetics at CHOP, and an assistant professor of Pediatrics in the Perelman School of Medicine at the University of Pennsylvania. His research focuses on the study of glycosylation in the brain.

E-mail:
edmondsona [at] chop.edu
Nancy B. Spinner, PhD
Nancy B. Spinner

Dr. Spinner's research focuses on the etiology and expressivity of pediatric developmental disorders. She uses genomic methods to focus on the multisystem disorder Alagille syndrome and biliary atresia, a likely heterogeneous and poorly understood condition. She is also interested in using genomic tools to continue to improve diagnostic rates for constitutional genetic disorders.

E-mail:
spinner [at] chop.edu
Pedro Gonzalez-Alegre, MD, PhD
Dr. Gonzalez-Alegre’s long-range research goal is to advance the application of precision medicine in the neurology clinic. His research focus revolves around genetic disorders that affect the brain, spanning from the diagnosis of novel genetic disease in the clinic to the identification of novel molecular targets using disease models and the design of early-phase human clinical trials.

Dr. Gonzalez-Alegre's long-range research goal is to advance the application of precision medicine in the neurology clinic. His research focus revolves around genetic disorders that affect the brain, spanning from the diagnosis of novel genetic disease in the clinic to the identification of novel molecular targets using disease models and the design of early-phase human clinical trials.

E-mail:
gonzalezap [at] chop.edu
Lisa M. Guay-Woodford, MD
Lisa M. Guay-Woodford

Dr. Guay-Woodford is an internationally recognized pediatric nephrologist with a research program focused on identifying clinical and genetic factors involved in the pathogenesis of inherited renal disorders, most notably autosomal recessive polycystic kidney disease.

E-mail:
guaywoodfl [at] chop.edu
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
Minjie Luo, PhD, FACMG
Minjie Luo

Dr. Luo’s clinical research involves employing a variety of techniques to evaluate genetic and genomic alterations for integrated diagnosis of both constitutional disorders and cancer, and to understand the mechanisms of genomic changes.

E-mail:
luom [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
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
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
Adeline L. Vanderver, MD
Photo of Adeline Vanderver

Using translational approaches that encompass genomic studies, biomarker development, disease modeling, natural history studies, and clinical trials, Dr. Vanderver seeks to improve the quality of life and lifespan of individuals living with leukodystrophies or heritable disorder of myelin. She leads the Leukodystrophy Center of Excellence at Children's Hospital of Philadelphia.

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

Filter By

  • Principal Investigator / Faculty (48)
  • Researcher / Lab Personnel (3)
  • Research Administration (1)

Organizations

  • Department of Pediatrics (55)
  • Center for Autism Research (50)
  • Center for Applied Genomics (49)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (40)
  • Center for Injury Research and Prevention (39)
  • PolicyLab (37)
  • Division of Human Genetics (34)
  • Division of Neurology (31)
  • Division of Hematology (24)
  • Center for Childhood Cancer Research (22)
  • Department of Pathology and Laboratory Medicine (22)
  • Division of Endocrinology and Diabetes (21)
  • Mitochondrial Medicine (21)
  • Center for Mitochondrial and Epigenomic Medicine (20)
  • Division of Oncology (19)
  • Clinical Futures (17)
  • Division of Allergy and Immunology (17)
  • Division of Infectious Diseases (16)
  • Department of Biomedical and Health Informatics (14)
  • Lifespan Brain Institute (14)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (13)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (13)
  • Department of Anesthesiology and Critical Care Medicine (12)
  • Roberts Individualized Medical Genetics Center (12)
  • Center for Data-Driven Discovery in Biomedicine (11)
  • Division of Neonatology (11)
  • Center for Computational and Genomic Medicine (10)
  • Congenital Hyperinsulinism Research Laboratory (10)
  • Anderson Laboratory (9)
  • Advancement of Hyperinsulinism Care and Research (7)
  • De León-Crutchlow Laboratory (7)
  • Department of Radiology (7)
  • Division of Emergency Medicine (7)
  • Division of Orthopaedic Surgery (7)
  • Minds Matter Concussion Program (7)
  • Office of Academic Training and Outreach Programs (7)
  • Cancer Immunotherapy (CAR-T) (6)
  • Center for Spatial and Functional Genomics (6)
  • Children’s Oncology Group (6)
  • Division of Adolescent Medicine (6)
  • Division of Cardiology (6)
  • Leukodystrophy Center of Excellence (6)
  • Center for Violence Prevention (5)
  • Department of Surgery (5)
  • Lurie Family Foundations MEG Imaging Center (5)
  • Center for Child Injury Prevention Studies (4)
  • Comprehensive Bone Marrow Failure Center (4)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (4)
  • Division of Nephrology (4)
  • eMERGE (4)
  • Friedreich’s Ataxia Center of Excellence (4)
  • Intellectual and Developmental Disabilities Research Center (4)
  • Translational Research Program in Pediatric Orthopaedics (4)
  • Akizu Laboratory (3)
  • Bhoj Laboratory (3)
  • Center for Applied Genomics Laboratory (3)
  • CHOP Cardiovascular Institute (3)
  • CHOP Microbiome Center (3)
  • Division of Gastroenterology, Hepatology, and Nutrition (3)
  • Division of General Pediatrics (3)
  • Division of Plastic, Reconstructive and Oral Surgery (3)
  • Division of Protective Immunity (3)
  • Division of Pulmonary and Sleep Medicine (3)
  • Division of Rheumatology (3)
  • Jill and Mark Fishman Center for Lymphatic Disorders (3)
  • PennCHOP Microbiome Program (3)
  • Pennsylvania Pediatric Medical Device Consortium (3)
  • Rivella Laboratory (3)
  • Romberg Laboratory (3)
  • Sleep Center (3)
  • Aquatic Zebrafish Core (2)
  • Bernt Laboratory (2)
  • Brain-Gene-Development Lab (2)
  • Cell and Gene Therapy Collaborative (2)
  • Center for Pediatric Airway Disorders (2)
  • Center for Pediatric Heart Valve Disorders (2)
  • Davidson Laboratory (2)
  • DBHi Bioinformatics (2)
  • Division of Neurosurgery (2)
  • Division of Urology (2)
  • Heuckeroth Laboratory (2)
  • Immune Dysregulation Program (2)
  • Inflammatory Bowel Disease Center (2)
  • Song Laboratory (2)
  • Spatial and Functional Genomics Research Affinity Group (2)
  • Vanderver Laboratory (2)
  • West Philadelphia Asthma Care (2)
  • Ahrens-Nicklas Laboratory (1)
  • Almasy Laboratory (1)
  • Beckwith-Wiedemann Syndrome Program of Excellence (1)
  • Biorepository Resource Center (1)
  • Camire Laboratory (1)
  • Chronic Kidney Disease in Children Study (1)
  • Clinical In Vivo Gene Therapy (1)
  • Clinical Research Support Office (1)
  • Clinical Vector Core (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • Developmental Biology Research Affinity Group (1)
  • Division of Cancer Pathobiology (1)
  • Division of Cell Pathology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Fetal Imaging (1)
  • Division of Neuroradiology (1)
  • Division of Ophthalmology (1)
  • Division of Otolaryngology (1)
  • Fetal Biology and Therapy Research Affinity Group (1)
  • Feudtner Laboratory (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • George Laboratory (1)
  • Goldberg Laboratory (1)
  • Grant Laboratory (1)
  • Helbig Laboratory (1)
  • Henrickson Laboratory (1)
  • Hill Laboratory (1)
  • IDDRC Neuroimaging and Neurocircuitry Core (1)
  • Institutional Review Board (1)
  • Izumi Laboratory (1)
  • Krantz Laboratory (1)
  • Lefebvre Laboratory (1)
  • Levine Laboratory (1)
  • Lynch Laboratory (1)
  • Margaritis Laboratory (1)
  • Maris Laboratory (1)
  • mHealth Research Affinity Group (1)
  • Neonatal Chronic Lung Disease (1)
  • Neuroscience Research Affinity Group (1)
  • Novel Therapeutics for Bleeding Disorders (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • Pediatric Research in Office Settings (1)
  • PEDSnet (1)
  • Penn-CHOP Kidney Innovation Center (1)
  • Research Creative Services (1)
  • Research Vector Core (1)
  • Samelson-Jones Laboratory (1)
  • Shalem Laboratory (1)
  • Single Cell Technology Core (1)
  • Spinner Laboratory (1)
  • Stress Neurobiology Program (1)
  • The Resuscitation Science Center (1)
  • Tsui Laboratory (1)
  • Wells Laboratory (1)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (1)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (1)

In this section

Filter By

  • Principal Investigator / Faculty (48)
  • Researcher / Lab Personnel (3)
  • Research Administration (1)

Organizations

  • Department of Pediatrics (55)
  • Center for Autism Research (50)
  • Center for Applied Genomics (49)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (40)
  • Center for Injury Research and Prevention (39)
  • PolicyLab (37)
  • Division of Human Genetics (34)
  • Division of Neurology (31)
  • Division of Hematology (24)
  • Center for Childhood Cancer Research (22)
  • Department of Pathology and Laboratory Medicine (22)
  • Division of Endocrinology and Diabetes (21)
  • Mitochondrial Medicine (21)
  • Center for Mitochondrial and Epigenomic Medicine (20)
  • Division of Oncology (19)
  • Clinical Futures (17)
  • Division of Allergy and Immunology (17)
  • Division of Infectious Diseases (16)
  • Department of Biomedical and Health Informatics (14)
  • Lifespan Brain Institute (14)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (13)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (13)
  • Department of Anesthesiology and Critical Care Medicine (12)
  • Roberts Individualized Medical Genetics Center (12)
  • Center for Data-Driven Discovery in Biomedicine (11)
  • Division of Neonatology (11)
  • Center for Computational and Genomic Medicine (10)
  • Congenital Hyperinsulinism Research Laboratory (10)
  • Anderson Laboratory (9)
  • Advancement of Hyperinsulinism Care and Research (7)
  • De León-Crutchlow Laboratory (7)
  • Department of Radiology (7)
  • Division of Emergency Medicine (7)
  • Division of Orthopaedic Surgery (7)
  • Minds Matter Concussion Program (7)
  • Office of Academic Training and Outreach Programs (7)
  • Cancer Immunotherapy (CAR-T) (6)
  • Center for Spatial and Functional Genomics (6)
  • Children’s Oncology Group (6)
  • Division of Adolescent Medicine (6)
  • Division of Cardiology (6)
  • Leukodystrophy Center of Excellence (6)
  • Center for Violence Prevention (5)
  • Department of Surgery (5)
  • Lurie Family Foundations MEG Imaging Center (5)
  • Center for Child Injury Prevention Studies (4)
  • Comprehensive Bone Marrow Failure Center (4)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (4)
  • Division of Nephrology (4)
  • eMERGE (4)
  • Friedreich’s Ataxia Center of Excellence (4)
  • Intellectual and Developmental Disabilities Research Center (4)
  • Translational Research Program in Pediatric Orthopaedics (4)
  • Akizu Laboratory (3)
  • Bhoj Laboratory (3)
  • Center for Applied Genomics Laboratory (3)
  • CHOP Cardiovascular Institute (3)
  • CHOP Microbiome Center (3)
  • Division of Gastroenterology, Hepatology, and Nutrition (3)
  • Division of General Pediatrics (3)
  • Division of Plastic, Reconstructive and Oral Surgery (3)
  • Division of Protective Immunity (3)
  • Division of Pulmonary and Sleep Medicine (3)
  • Division of Rheumatology (3)
  • Jill and Mark Fishman Center for Lymphatic Disorders (3)
  • PennCHOP Microbiome Program (3)
  • Pennsylvania Pediatric Medical Device Consortium (3)
  • Rivella Laboratory (3)
  • Romberg Laboratory (3)
  • Sleep Center (3)
  • Aquatic Zebrafish Core (2)
  • Bernt Laboratory (2)
  • Brain-Gene-Development Lab (2)
  • Cell and Gene Therapy Collaborative (2)
  • Center for Pediatric Airway Disorders (2)
  • Center for Pediatric Heart Valve Disorders (2)
  • Davidson Laboratory (2)
  • DBHi Bioinformatics (2)
  • Division of Neurosurgery (2)
  • Division of Urology (2)
  • Heuckeroth Laboratory (2)
  • Immune Dysregulation Program (2)
  • Inflammatory Bowel Disease Center (2)
  • Song Laboratory (2)
  • Spatial and Functional Genomics Research Affinity Group (2)
  • Vanderver Laboratory (2)
  • West Philadelphia Asthma Care (2)
  • Ahrens-Nicklas Laboratory (1)
  • Almasy Laboratory (1)
  • Beckwith-Wiedemann Syndrome Program of Excellence (1)
  • Biorepository Resource Center (1)
  • Camire Laboratory (1)
  • Chronic Kidney Disease in Children Study (1)
  • Clinical In Vivo Gene Therapy (1)
  • Clinical Research Support Office (1)
  • Clinical Vector Core (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • Developmental Biology Research Affinity Group (1)
  • Division of Cancer Pathobiology (1)
  • Division of Cell Pathology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Fetal Imaging (1)
  • Division of Neuroradiology (1)
  • Division of Ophthalmology (1)
  • Division of Otolaryngology (1)
  • Fetal Biology and Therapy Research Affinity Group (1)
  • Feudtner Laboratory (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • George Laboratory (1)
  • Goldberg Laboratory (1)
  • Grant Laboratory (1)
  • Helbig Laboratory (1)
  • Henrickson Laboratory (1)
  • Hill Laboratory (1)
  • IDDRC Neuroimaging and Neurocircuitry Core (1)
  • Institutional Review Board (1)
  • Izumi Laboratory (1)
  • Krantz Laboratory (1)
  • Lefebvre Laboratory (1)
  • Levine Laboratory (1)
  • Lynch Laboratory (1)
  • Margaritis Laboratory (1)
  • Maris Laboratory (1)
  • mHealth Research Affinity Group (1)
  • Neonatal Chronic Lung Disease (1)
  • Neuroscience Research Affinity Group (1)
  • Novel Therapeutics for Bleeding Disorders (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • Pediatric Research in Office Settings (1)
  • PEDSnet (1)
  • Penn-CHOP Kidney Innovation Center (1)
  • Research Creative Services (1)
  • Research Vector Core (1)
  • Samelson-Jones Laboratory (1)
  • Shalem Laboratory (1)
  • Single Cell Technology Core (1)
  • Spinner Laboratory (1)
  • Stress Neurobiology Program (1)
  • The Resuscitation Science Center (1)
  • Tsui Laboratory (1)
  • Wells Laboratory (1)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (1)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (1)
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