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Results for Rare Disease

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Jarcy Zee, PhD
Jarcy Zee, PhD

Dr. Zee's statistical methods research includes topics in survival analysis, measurement error, observational data methods, and machine learning. Her clinical research is focused on kidney disease, specifically in clinical and pathology markers of glomerular and chronic kidney disease progression.

E-mail:
zeej [at] chop.edu
Samuel B. Goldfarb, MD
Samuel B. Goldfarb

Dr. Goldfarb has special interests in the treatment of children with end-stage lung disease such as cystic fibrosis, interstitial lung disease, pulmonary late effects of oncology treatments, and other pulmonary disorders.

E-mail:
goldfarb [at] chop.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
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.

Ian M. Cambell, MD, PhD
Ian M. Campbell

Dr. Campbell is interested in approaches to improve diagnosis of children with rare genetic diseases. He also focuses on better understanding of the full spectrum of symptoms associated with genetic diseases as well as discovering new diseases.

E-mail:
campbellim [at] chop.edu
Kathleen Loomes, MD
Kathleen Loomes

Dr. Loomes' research is focused on clinical and translational studies in pediatric liver disease. She works with National Institutes of Health-funded national consortia to conduct studies investigating the etiology and treatment for rare pediatric liver diseases including biliary atresia, Alagille syndrome, and others. Dr. Loomes also collaborates with other investigators at Children’s Hospital of Philadelphia to investigate genetic causes of pediatric liver disease.

E-mail:
loomes [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
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
Sharon McGrath-Morrow, MBA, MD
Sharon A. McGrath-Morrow

Dr. McGrath-Morrow is associate chief of the Division of Pulmonary and Sleep Medicine and leader of the Post-preemie Lung Disease Clinic at Children’s Hospital of Philadelphia. Her research seeks to link early life events with adult lung health and biomarker discovery for future trials.

E-mail:
mcgrathmos [at] chop.edu
Matthew A. Deardorff , MD, PhD
Photo of Matthew A. Deardorff

Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease.  His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.

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

Filter By

  • Principal Investigator / Faculty (30)
  • Research Administration (1)

Organizations

  • Department of Pediatrics (41)
  • Center for Applied Genomics (38)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (27)
  • Center for Childhood Cancer Research (23)
  • Division of Neurology (22)
  • Center for Injury Research and Prevention (21)
  • Division of Allergy and Immunology (21)
  • Division of Human Genetics (20)
  • PolicyLab (19)
  • Division of Oncology (17)
  • Department of Pathology and Laboratory Medicine (16)
  • Division of Endocrinology and Diabetes (16)
  • Division of Infectious Diseases (16)
  • Congenital Hyperinsulinism Research Laboratory (15)
  • Department of Biomedical and Health Informatics (15)
  • Division of Hematology (14)
  • Center for Data-Driven Discovery in Biomedicine (13)
  • Center for Mitochondrial and Epigenomic Medicine (13)
  • Center for Autism Research (12)
  • Clinical Futures (11)
  • Advancement of Hyperinsulinism Care and Research (10)
  • Mitochondrial Medicine (10)
  • De León-Crutchlow Laboratory (9)
  • Center for Computational and Genomic Medicine (8)
  • Leukodystrophy Center of Excellence (8)
  • Center for Spatial and Functional Genomics (7)
  • Department of Anesthesiology and Critical Care Medicine (7)
  • Division of Pulmonary and Sleep Medicine (7)
  • Roberts Individualized Medical Genetics Center (7)
  • Children’s Oncology Group (6)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (6)
  • Division of Neonatology (5)
  • Division of Orthopaedic Surgery (5)
  • Lifespan Brain Institute (5)
  • Center for Child Injury Prevention Studies (4)
  • Department of Radiology (4)
  • Anderson Laboratory (3)
  • Clinical Research Support Office (3)
  • Comprehensive Bone Marrow Failure Center (3)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (3)
  • Department of Surgery (3)
  • Division of Cardiology (3)
  • Division of Emergency Medicine (3)
  • Division of Nephrology (3)
  • Division of Neurosurgery (3)
  • Division of Protective Immunity (3)
  • Division of Rheumatology (3)
  • eMERGE (3)
  • Food Allergy Center (3)
  • Friedreich’s Ataxia Center of Excellence (3)
  • Jill and Mark Fishman Center for Lymphatic Disorders (3)
  • Office of Academic Training and Outreach Programs (3)
  • Romberg Laboratory (3)
  • Vanderver Laboratory (3)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (3)
  • Bernt Laboratory (2)
  • Cancer Immunotherapy (CAR-T) (2)
  • Center for Applied Genomics Laboratory (2)
  • Center for Human Phenomic Science (2)
  • Comprehensive Vascular Anomalies Program (2)
  • Davidson Laboratory (2)
  • Division of Adolescent Medicine (2)
  • Division of Gastroenterology, Hepatology, and Nutrition (2)
  • Division of Neuroradiology (2)
  • Division of Plastic, Reconstructive and Oral Surgery (2)
  • Immune Dysregulation Program (2)
  • Inflammatory Bowel Disease Center (2)
  • Institutional Review Board (2)
  • Minds Matter Concussion Program (2)
  • Pacifici Laboratory (2)
  • Pediatric Center of Excellence in Nephrology (2)
  • PEDSnet (2)
  • Thyroid Center (2)
  • Translational Research Program in Pediatric Orthopaedics (2)
  • Ackermann Laboratory (1)
  • Ahrens-Nicklas Laboratory (1)
  • Aquatic Zebrafish Core (1)
  • Bhoj Laboratory (1)
  • Blobel Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Center for Pediatric Airway Disorders (1)
  • Center for Pediatric Heart Valve Disorders (1)
  • Center for Violence Prevention (1)
  • Chou Laboratory (1)
  • Clinical Vector Core (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • DBHi Translational Informatics (1)
  • Division of Ophthalmology (1)
  • Division of Urology (1)
  • Eisenlohr Laboratory (1)
  • Feudtner Laboratory (1)
  • Fred and Suzanne Biesecker Pediatric Liver Center (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • Grant Laboratory (1)
  • Henrickson Laboratory (1)
  • Innovation Ecosystem (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Krantz Laboratory (1)
  • Lin Laboratory (1)
  • Lurie Family Foundations MEG Imaging Center (1)
  • Maris Laboratory (1)
  • mHealth Research Affinity Group (1)
  • Neuroscience Research Affinity Group (1)
  • Novel Therapeutics for Bleeding Disorders (1)
  • Office of the Ruth M. Colket Chair Pediatric Nursing Science (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pediatric Research Consortium (1)
  • PennCHOP Microbiome Program (1)
  • Pre-Award Research Administration (1)
  • Rare Lung Diseases Center (1)
  • Research Creative Services (1)
  • Research Information Services (1)
  • Research Vector Core (1)
  • Spatial and Functional Genomics Research Affinity Group (1)
  • Spinner Laboratory (1)
  • Tsui Laboratory (1)
  • Wells Laboratory (1)
  • West Philadelphia Asthma Care (1)

In this section

Filter By

  • Principal Investigator / Faculty (30)
  • Research Administration (1)

Organizations

  • Department of Pediatrics (41)
  • Center for Applied Genomics (38)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (27)
  • Center for Childhood Cancer Research (23)
  • Division of Neurology (22)
  • Center for Injury Research and Prevention (21)
  • Division of Allergy and Immunology (21)
  • Division of Human Genetics (20)
  • PolicyLab (19)
  • Division of Oncology (17)
  • Department of Pathology and Laboratory Medicine (16)
  • Division of Endocrinology and Diabetes (16)
  • Division of Infectious Diseases (16)
  • Congenital Hyperinsulinism Research Laboratory (15)
  • Department of Biomedical and Health Informatics (15)
  • Division of Hematology (14)
  • Center for Data-Driven Discovery in Biomedicine (13)
  • Center for Mitochondrial and Epigenomic Medicine (13)
  • Center for Autism Research (12)
  • Clinical Futures (11)
  • Advancement of Hyperinsulinism Care and Research (10)
  • Mitochondrial Medicine (10)
  • De León-Crutchlow Laboratory (9)
  • Center for Computational and Genomic Medicine (8)
  • Leukodystrophy Center of Excellence (8)
  • Center for Spatial and Functional Genomics (7)
  • Department of Anesthesiology and Critical Care Medicine (7)
  • Division of Pulmonary and Sleep Medicine (7)
  • Roberts Individualized Medical Genetics Center (7)
  • Children’s Oncology Group (6)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (6)
  • Division of Neonatology (5)
  • Division of Orthopaedic Surgery (5)
  • Lifespan Brain Institute (5)
  • Center for Child Injury Prevention Studies (4)
  • Department of Radiology (4)
  • Anderson Laboratory (3)
  • Clinical Research Support Office (3)
  • Comprehensive Bone Marrow Failure Center (3)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (3)
  • Department of Surgery (3)
  • Division of Cardiology (3)
  • Division of Emergency Medicine (3)
  • Division of Nephrology (3)
  • Division of Neurosurgery (3)
  • Division of Protective Immunity (3)
  • Division of Rheumatology (3)
  • eMERGE (3)
  • Food Allergy Center (3)
  • Friedreich’s Ataxia Center of Excellence (3)
  • Jill and Mark Fishman Center for Lymphatic Disorders (3)
  • Office of Academic Training and Outreach Programs (3)
  • Romberg Laboratory (3)
  • Vanderver Laboratory (3)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (3)
  • Bernt Laboratory (2)
  • Cancer Immunotherapy (CAR-T) (2)
  • Center for Applied Genomics Laboratory (2)
  • Center for Human Phenomic Science (2)
  • Comprehensive Vascular Anomalies Program (2)
  • Davidson Laboratory (2)
  • Division of Adolescent Medicine (2)
  • Division of Gastroenterology, Hepatology, and Nutrition (2)
  • Division of Neuroradiology (2)
  • Division of Plastic, Reconstructive and Oral Surgery (2)
  • Immune Dysregulation Program (2)
  • Inflammatory Bowel Disease Center (2)
  • Institutional Review Board (2)
  • Minds Matter Concussion Program (2)
  • Pacifici Laboratory (2)
  • Pediatric Center of Excellence in Nephrology (2)
  • PEDSnet (2)
  • Thyroid Center (2)
  • Translational Research Program in Pediatric Orthopaedics (2)
  • Ackermann Laboratory (1)
  • Ahrens-Nicklas Laboratory (1)
  • Aquatic Zebrafish Core (1)
  • Bhoj Laboratory (1)
  • Blobel Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Center for Pediatric Airway Disorders (1)
  • Center for Pediatric Heart Valve Disorders (1)
  • Center for Violence Prevention (1)
  • Chou Laboratory (1)
  • Clinical Vector Core (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • DBHi Translational Informatics (1)
  • Division of Ophthalmology (1)
  • Division of Urology (1)
  • Eisenlohr Laboratory (1)
  • Feudtner Laboratory (1)
  • Fred and Suzanne Biesecker Pediatric Liver Center (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • Grant Laboratory (1)
  • Henrickson Laboratory (1)
  • Innovation Ecosystem (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Krantz Laboratory (1)
  • Lin Laboratory (1)
  • Lurie Family Foundations MEG Imaging Center (1)
  • Maris Laboratory (1)
  • mHealth Research Affinity Group (1)
  • Neuroscience Research Affinity Group (1)
  • Novel Therapeutics for Bleeding Disorders (1)
  • Office of the Ruth M. Colket Chair Pediatric Nursing Science (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pediatric Research Consortium (1)
  • PennCHOP Microbiome Program (1)
  • Pre-Award Research Administration (1)
  • Rare Lung Diseases Center (1)
  • Research Creative Services (1)
  • Research Information Services (1)
  • Research Vector Core (1)
  • Spatial and Functional Genomics Research Affinity Group (1)
  • Spinner Laboratory (1)
  • Tsui Laboratory (1)
  • Wells Laboratory (1)
  • West Philadelphia Asthma Care (1)
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