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Results for Genetic Testing

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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
Marni J. Falk, MD
Marni J. Falk

Dr. Falk is a Clinical Geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.

E-mail:
falkm [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
Daniel P. Kelly, MD
Daniel P. Kelly

Dr. Kelly’s research career began with deciphering the genetic basis of inborn errors in metabolism in children, followed by a series of breakthrough discoveries relevant to the diagnosis and treatment of common forms of heart failure in the general population.

E-mail:
dankelly [at] pennmedicine.upenn.edu
Sarah K. Tasian, MD
Sarah K. Tasian

Dr. Tasian's research centers on the bench-to-bedside investigation of precision medicine therapies for high-risk childhood leukemias.

E-mail:
tasians [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
Peter Kurre, MD
Peter Kurre

Dr. Kurre's laboratory has longstanding expertise in Fanconi Anemia (FA), a genetic condition with prominent hematologic complications. With training in transplantation and hematopoietic stem cell biology, he hopes to improve the understanding of the progressive hematopoietic failure in patients with bone marrow failure and FA, broaden diagnostic approaches, and develop next generation therapies.

E-mail:
kurrep [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
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
Elizabeth Lowenthal, MD, MSCE
Elizabeth Lowenthal Headshot

Dr. Lowenthal's work is focused on addressing health priorities for children in resource-limited settings. In addition to research projects she serves as research director for the Children's Hospital of Philadelphia Global Health Center, supporting junior researchers (and senior researchers newly working in international settings) to develop projects addressing other health priorities for children in resource-limited settings.

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

Filter By

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

Organizations

  • Department of Pediatrics (35)
  • Center for Applied Genomics (30)
  • Center for Autism Research (26)
  • PolicyLab (23)
  • Center for Childhood Cancer Research (22)
  • Center for Injury Research and Prevention (22)
  • Division of Neurology (22)
  • Division of Oncology (21)
  • Division of Human Genetics (18)
  • Mitochondrial Medicine (17)
  • Division of Infectious Diseases (15)
  • Roberts Individualized Medical Genetics Center (15)
  • Division of Allergy and Immunology (14)
  • Center for Mitochondrial and Epigenomic Medicine (13)
  • Division of Hematology (13)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (12)
  • Department of Anesthesiology and Critical Care Medicine (11)
  • Department of Biomedical and Health Informatics (11)
  • Center for Data-Driven Discovery in Biomedicine (10)
  • Clinical Futures (10)
  • Division of Endocrinology and Diabetes (10)
  • Department of Pathology and Laboratory Medicine (8)
  • Center for Computational and Genomic Medicine (7)
  • Children’s Oncology Group (7)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (7)
  • Division of Neonatology (6)
  • Division of Orthopaedic Surgery (6)
  • Division of Adolescent Medicine (5)
  • Institutional Review Board (5)
  • Leukodystrophy Center of Excellence (5)
  • Lifespan Brain Institute (5)
  • Office of Academic Training and Outreach Programs (5)
  • Cancer Immunotherapy (CAR-T) (4)
  • De León-Crutchlow Laboratory (4)
  • Division of Cardiology (4)
  • Division of Emergency Medicine (4)
  • Advancement of Hyperinsulinism Care and Research (3)
  • Anderson Laboratory (3)
  • Center for Spatial and Functional Genomics (3)
  • Comprehensive Bone Marrow Failure Center (3)
  • Congenital Hyperinsulinism Research Laboratory (3)
  • Department of Radiology (3)
  • Division of Gastroenterology, Hepatology, and Nutrition (3)
  • Division of General Pediatrics (3)
  • Immune Dysregulation Program (3)
  • Lurie Family Foundations MEG Imaging Center (3)
  • Pennsylvania Pediatric Medical Device Consortium (3)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (3)
  • Translational Research Program in Pediatric Orthopaedics (3)
  • Bhoj Laboratory (2)
  • Center for Child Injury Prevention Studies (2)
  • Center for Human Phenomic Science (2)
  • Center for Precision Medicine for High-risk Pediatric Cancer (2)
  • Center for Violence Prevention (2)
  • Clinical In Vivo Gene Therapy (2)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (2)
  • Division of Ophthalmology (2)
  • Division of Pulmonary and Sleep Medicine (2)
  • eMERGE (2)
  • Food Allergy Center (2)
  • Henrickson Laboratory (2)
  • Hill Laboratory (2)
  • Metabolism, Nutrition, and Physical Development Research Affinity Group (2)
  • Minds Matter Concussion Program (2)
  • PennCHOP Microbiome Program (2)
  • Rivella Laboratory (2)
  • Shalem Laboratory (2)
  • Sleep Center (2)
  • Vanderver Laboratory (2)
  • West Philadelphia Asthma Care (2)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (2)
  • Aquatic Zebrafish Core (1)
  • Beckwith-Wiedemann Syndrome Program of Excellence (1)
  • Bernt Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Camire Laboratory (1)
  • Campbell Laboratory (1)
  • Center for Applied Genomics Laboratory (1)
  • Center for Pediatric Airway Disorders (1)
  • CHOP Microbiome Center (1)
  • Chronic Kidney Disease in Children Study (1)
  • Davidson Laboratory (1)
  • DBHi Bioinformatics (1)
  • Department of Surgery (1)
  • Division of Cancer Pathobiology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Nephrology (1)
  • Division of Neuroradiology (1)
  • Division of Neurosurgery (1)
  • Division of Plastic, Reconstructive and Oral Surgery (1)
  • Division of Rehabilitation Medicine (1)
  • Division of Urology (1)
  • Eisch Laboratory (1)
  • Feudtner Laboratory (1)
  • Fred and Suzanne Biesecker Pediatric Liver Center (1)
  • Friedreich’s Ataxia Center of Excellence (1)
  • George Laboratory (1)
  • Global Health Informatics (1)
  • Helbig Laboratory (1)
  • Inflammatory Bowel Disease Center (1)
  • Innovation Ecosystem (1)
  • Jill and Mark Fishman Center for Lymphatic Disorders (1)
  • Levine Laboratory (1)
  • Maris Laboratory (1)
  • Mitochondria Research Affinity Group (1)
  • Mossé Laboratory (1)
  • Novel Therapeutics for Bleeding Disorders (1)
  • Office of Faculty Development (1)
  • Office of the Ruth M. Colket Chair Pediatric Nursing Science (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pediatric Research in Office Settings (1)
  • PEDSnet (1)
  • Penn-CHOP Kidney Innovation Center (1)
  • Research Vector Core (1)
  • Romberg Laboratory (1)
  • Samelson-Jones Laboratory (1)
  • Silverman Laboratory (1)
  • Song Laboratory (1)
  • St. Geme Laboratory (1)
  • Thomas-Tikhonenko Laboratory (1)
  • Wolfe Lab (1)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (1)

In this section

Filter By

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

Organizations

  • Department of Pediatrics (35)
  • Center for Applied Genomics (30)
  • Center for Autism Research (26)
  • PolicyLab (23)
  • Center for Childhood Cancer Research (22)
  • Center for Injury Research and Prevention (22)
  • Division of Neurology (22)
  • Division of Oncology (21)
  • Division of Human Genetics (18)
  • Mitochondrial Medicine (17)
  • Division of Infectious Diseases (15)
  • Roberts Individualized Medical Genetics Center (15)
  • Division of Allergy and Immunology (14)
  • Center for Mitochondrial and Epigenomic Medicine (13)
  • Division of Hematology (13)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (12)
  • Department of Anesthesiology and Critical Care Medicine (11)
  • Department of Biomedical and Health Informatics (11)
  • Center for Data-Driven Discovery in Biomedicine (10)
  • Clinical Futures (10)
  • Division of Endocrinology and Diabetes (10)
  • Department of Pathology and Laboratory Medicine (8)
  • Center for Computational and Genomic Medicine (7)
  • Children’s Oncology Group (7)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (7)
  • Division of Neonatology (6)
  • Division of Orthopaedic Surgery (6)
  • Division of Adolescent Medicine (5)
  • Institutional Review Board (5)
  • Leukodystrophy Center of Excellence (5)
  • Lifespan Brain Institute (5)
  • Office of Academic Training and Outreach Programs (5)
  • Cancer Immunotherapy (CAR-T) (4)
  • De León-Crutchlow Laboratory (4)
  • Division of Cardiology (4)
  • Division of Emergency Medicine (4)
  • Advancement of Hyperinsulinism Care and Research (3)
  • Anderson Laboratory (3)
  • Center for Spatial and Functional Genomics (3)
  • Comprehensive Bone Marrow Failure Center (3)
  • Congenital Hyperinsulinism Research Laboratory (3)
  • Department of Radiology (3)
  • Division of Gastroenterology, Hepatology, and Nutrition (3)
  • Division of General Pediatrics (3)
  • Immune Dysregulation Program (3)
  • Lurie Family Foundations MEG Imaging Center (3)
  • Pennsylvania Pediatric Medical Device Consortium (3)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (3)
  • Translational Research Program in Pediatric Orthopaedics (3)
  • Bhoj Laboratory (2)
  • Center for Child Injury Prevention Studies (2)
  • Center for Human Phenomic Science (2)
  • Center for Precision Medicine for High-risk Pediatric Cancer (2)
  • Center for Violence Prevention (2)
  • Clinical In Vivo Gene Therapy (2)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (2)
  • Division of Ophthalmology (2)
  • Division of Pulmonary and Sleep Medicine (2)
  • eMERGE (2)
  • Food Allergy Center (2)
  • Henrickson Laboratory (2)
  • Hill Laboratory (2)
  • Metabolism, Nutrition, and Physical Development Research Affinity Group (2)
  • Minds Matter Concussion Program (2)
  • PennCHOP Microbiome Program (2)
  • Rivella Laboratory (2)
  • Shalem Laboratory (2)
  • Sleep Center (2)
  • Vanderver Laboratory (2)
  • West Philadelphia Asthma Care (2)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (2)
  • Aquatic Zebrafish Core (1)
  • Beckwith-Wiedemann Syndrome Program of Excellence (1)
  • Bernt Laboratory (1)
  • Brain-Gene-Development Lab (1)
  • Camire Laboratory (1)
  • Campbell Laboratory (1)
  • Center for Applied Genomics Laboratory (1)
  • Center for Pediatric Airway Disorders (1)
  • CHOP Microbiome Center (1)
  • Chronic Kidney Disease in Children Study (1)
  • Davidson Laboratory (1)
  • DBHi Bioinformatics (1)
  • Department of Surgery (1)
  • Division of Cancer Pathobiology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Nephrology (1)
  • Division of Neuroradiology (1)
  • Division of Neurosurgery (1)
  • Division of Plastic, Reconstructive and Oral Surgery (1)
  • Division of Rehabilitation Medicine (1)
  • Division of Urology (1)
  • Eisch Laboratory (1)
  • Feudtner Laboratory (1)
  • Fred and Suzanne Biesecker Pediatric Liver Center (1)
  • Friedreich’s Ataxia Center of Excellence (1)
  • George Laboratory (1)
  • Global Health Informatics (1)
  • Helbig Laboratory (1)
  • Inflammatory Bowel Disease Center (1)
  • Innovation Ecosystem (1)
  • Jill and Mark Fishman Center for Lymphatic Disorders (1)
  • Levine Laboratory (1)
  • Maris Laboratory (1)
  • Mitochondria Research Affinity Group (1)
  • Mossé Laboratory (1)
  • Novel Therapeutics for Bleeding Disorders (1)
  • Office of Faculty Development (1)
  • Office of the Ruth M. Colket Chair Pediatric Nursing Science (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pediatric Research in Office Settings (1)
  • PEDSnet (1)
  • Penn-CHOP Kidney Innovation Center (1)
  • Research Vector Core (1)
  • Romberg Laboratory (1)
  • Samelson-Jones Laboratory (1)
  • Silverman Laboratory (1)
  • Song Laboratory (1)
  • St. Geme Laboratory (1)
  • Thomas-Tikhonenko Laboratory (1)
  • Wolfe Lab (1)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (1)
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