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Results for Genetics

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1 - 10 of 950

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
Laura Almasy, PhD
Laura Almasy

Dr. Almasy's work involves statistical genetic studies of addiction, autism, schizophrenia, and related quantitative risk factors.

E-mail:
almasyl [at] chop.edu
Elizabeth J.K. Bhoj, MD PhD
Elizabeth J.K. Bhoj

Dr. Bhoj's genetics research aims to discover new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, Dr. Bhoj focuses on three novel genes that lead to pediatric neurologic dysfunction: TBC1 domain-containing kinase, Histone 3.3 (H3F3A and H3F3B), and MAP4K4.

E-mail:
bhoje [at] chop.edu
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
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
Beverly S. Emanuel, PhD
Beverly S. Emanuel Headshot

Dr. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrome.

E-mail:
emanuel [at] chop.edu
Struan F.A. Grant, PhD
Photo of Struan F.A. Grant

Dr. Grant uses high-throughput genotyping and sequencing technologies, combined with statistical and bioinformatic approaches, to unravel genomic puzzles related to multiple common complex traits.

E-mail:
grants [at] chop.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
Elaine H. Zackai, MD
Elaine H. Zackai
E-mail:
zackai [at] chop.edu
1 - 10 of 950

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In this section

Filter By

  • Principal Investigator / Faculty (100)
  • Researcher / Lab Personnel (4)
  • Research Administration (2)

Organizations

  • Center for Applied Genomics (102)
  • Department of Pediatrics (82)
  • Center for Injury Research and Prevention (54)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (53)
  • Center for Autism Research (51)
  • PolicyLab (49)
  • Division of Human Genetics (47)
  • Center for Childhood Cancer Research (46)
  • Division of Oncology (41)
  • Division of Neurology (40)
  • Department of Pathology and Laboratory Medicine (36)
  • Center for Mitochondrial and Epigenomic Medicine (35)
  • Department of Biomedical and Health Informatics (35)
  • Division of Endocrinology and Diabetes (28)
  • Division of Infectious Diseases (26)
  • Division of Hematology (25)
  • Mitochondrial Medicine (25)
  • Division of Allergy and Immunology (23)
  • Office of Academic Training and Outreach Programs (21)
  • Center for Computational and Genomic Medicine (20)
  • Clinical Futures (20)
  • Center for Spatial and Functional Genomics (19)
  • Roberts Individualized Medical Genetics Center (19)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (17)
  • Center for Data-Driven Discovery in Biomedicine (16)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (16)
  • Division of Neonatology (15)
  • Lifespan Brain Institute (15)
  • Department of Anesthesiology and Critical Care Medicine (14)
  • Division of Orthopaedic Surgery (12)
  • Children’s Oncology Group (11)
  • Congenital Hyperinsulinism Research Laboratory (11)
  • Cancer Immunotherapy (CAR-T) (9)
  • Department of Radiology (9)
  • Division of Cardiology (9)
  • Anderson Laboratory (8)
  • Department of Surgery (8)
  • Division of Adolescent Medicine (8)
  • Division of Emergency Medicine (8)
  • Division of Gastroenterology, Hepatology, and Nutrition (8)
  • Division of Pulmonary and Sleep Medicine (8)
  • PennCHOP Microbiome Program (8)
  • Advancement of Hyperinsulinism Care and Research (7)
  • Cell and Gene Therapy Collaborative (7)
  • Comprehensive Bone Marrow Failure Center (7)
  • De León-Crutchlow Laboratory (7)
  • Leukodystrophy Center of Excellence (7)
  • Minds Matter Concussion Program (7)
  • Center for Violence Prevention (6)
  • CHOP Microbiome Center (6)
  • Institutional Review Board (6)
  • Clinical Research Support Office (5)
  • Division of General Pediatrics (5)
  • Division of Nephrology (5)
  • Intellectual and Developmental Disabilities Research Center (5)
  • Lurie Family Foundations MEG Imaging Center (5)
  • Translational Research Program in Pediatric Orthopaedics (5)
  • Akizu Laboratory (4)
  • Center for Applied Genomics Laboratory (4)
  • Center for Child Injury Prevention Studies (4)
  • Center for Human Phenomic Science (4)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (4)
  • Division of Cancer Pathobiology (4)
  • Division of Neurosurgery (4)
  • Division of Plastic, Reconstructive and Oral Surgery (4)
  • Division of Rheumatology (4)
  • eMERGE (4)
  • Friedreich’s Ataxia Center of Excellence (4)
  • Penn-CHOP Kidney Innovation Center (4)
  • Rivella Laboratory (4)
  • Sleep Center (4)
  • Song Laboratory (4)
  • Almasy Laboratory (3)
  • Bhoj Laboratory (3)
  • Brain-Gene-Development Lab (3)
  • Clinical Vector Core (3)
  • Division of Ophthalmology (3)
  • Division of Protective Immunity (3)
  • Inflammatory Bowel Disease Center (3)
  • Jill and Mark Fishman Center for Lymphatic Disorders (3)
  • Maris Laboratory (3)
  • Metabolism, Nutrition, and Physical Development Research Affinity Group (3)
  • mHealth Research Affinity Group (3)
  • Office of Faculty Development (3)
  • Pediatric Center of Excellence in Nephrology (3)
  • Research Creative Services (3)
  • Romberg Laboratory (3)
  • Silverman Laboratory (3)
  • Spatial and Functional Genomics Research Affinity Group (3)
  • St. Geme Laboratory (3)
  • Thyroid Center (3)
  • Aquatic Zebrafish Core (2)
  • Beckwith-Wiedemann Syndrome Program of Excellence (2)
  • Bernt Laboratory (2)
  • Campbell Laboratory (2)
  • Center for Pediatric Airway Disorders (2)
  • Chronic Kidney Disease in Children Study (2)
  • Clinical In Vivo Gene Therapy (2)
  • Davidson Laboratory (2)
  • DBHi Bioinformatics (2)
  • Developmental Biology Research Affinity Group (2)
  • Food Allergy Center (2)
  • Grant Laboratory (2)
  • Heuckeroth Laboratory (2)
  • Hill Laboratory (2)
  • Immune Dysregulation Program (2)
  • Innovation Ecosystem (2)
  • Marks Laboratory (2)
  • Mossé Laboratory (2)
  • Pennsylvania Pediatric Medical Device Consortium (2)
  • Research Vector Core (2)
  • Shalem Laboratory (2)
  • Vanderver Laboratory (2)
  • Wallace Laboratory (2)
  • Wells Laboratory (2)
  • West Philadelphia Asthma Care (2)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (2)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (2)
  • Ahrens-Nicklas Laboratory (1)
  • Bailis Laboratory (1)
  • Biorepository Resource Center (1)
  • Blobel Laboratory (1)
  • Bosse Laboratory (1)
  • CAG Sequencing Core (1)
  • Camire Laboratory (1)
  • Center for Pediatric Heart Valve Disorders (1)
  • CHOP Cardiovascular Institute (1)
  • Computational Epigenetics (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • Division of Cell Pathology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Fetal Imaging (1)
  • Division of Neuroradiology (1)
  • Division of Otolaryngology (1)
  • Division of Rehabilitation Medicine (1)
  • Division of Urology (1)
  • Eisch Laboratory (1)
  • Fetal Biology and Therapy Research Affinity Group (1)
  • Feudtner Laboratory (1)
  • Fred and Suzanne Biesecker Pediatric Liver Center (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • George Laboratory (1)
  • Global Health Research Affinity Group (1)
  • Goldberg Laboratory (1)
  • Hamilton Laboratory (1)
  • Helbig Laboratory (1)
  • Henrickson Laboratory (1)
  • IDDRC Neuroimaging and Neurocircuitry Core (1)
  • Izumi Laboratory (1)
  • Krantz Laboratory (1)
  • Kurre Laboratory (1)
  • Lefebvre Laboratory (1)
  • Levine Laboratory (1)
  • Lin Laboratory (1)
  • Ma Laboratory for Immune Engineering (1)
  • Margaritis Laboratory (1)
  • MetaCHOP Research Affinity Group (1)
  • Mitochondria 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)
  • Pacifici Laboratory (1)
  • Pediatric Research Consortium (1)
  • Pediatric Research in Office Settings (1)
  • PEDSnet (1)
  • Research Information Services (1)
  • Samelson-Jones Laboratory (1)
  • Single Cell Technology Core (1)
  • Spinner Laboratory (1)
  • Stress Neurobiology Program (1)
  • Sullivan Laboratory (1)
  • The Resuscitation Science Center (1)
  • Thomas-Tikhonenko Laboratory (1)
  • Tsui Laboratory (1)
  • Wolfe Lab (1)

In this section

Filter By

  • Principal Investigator / Faculty (100)
  • Researcher / Lab Personnel (4)
  • Research Administration (2)

Organizations

  • Center for Applied Genomics (102)
  • Department of Pediatrics (82)
  • Center for Injury Research and Prevention (54)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (53)
  • Center for Autism Research (51)
  • PolicyLab (49)
  • Division of Human Genetics (47)
  • Center for Childhood Cancer Research (46)
  • Division of Oncology (41)
  • Division of Neurology (40)
  • Department of Pathology and Laboratory Medicine (36)
  • Center for Mitochondrial and Epigenomic Medicine (35)
  • Department of Biomedical and Health Informatics (35)
  • Division of Endocrinology and Diabetes (28)
  • Division of Infectious Diseases (26)
  • Division of Hematology (25)
  • Mitochondrial Medicine (25)
  • Division of Allergy and Immunology (23)
  • Office of Academic Training and Outreach Programs (21)
  • Center for Computational and Genomic Medicine (20)
  • Clinical Futures (20)
  • Center for Spatial and Functional Genomics (19)
  • Roberts Individualized Medical Genetics Center (19)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (17)
  • Center for Data-Driven Discovery in Biomedicine (16)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (16)
  • Division of Neonatology (15)
  • Lifespan Brain Institute (15)
  • Department of Anesthesiology and Critical Care Medicine (14)
  • Division of Orthopaedic Surgery (12)
  • Children’s Oncology Group (11)
  • Congenital Hyperinsulinism Research Laboratory (11)
  • Cancer Immunotherapy (CAR-T) (9)
  • Department of Radiology (9)
  • Division of Cardiology (9)
  • Anderson Laboratory (8)
  • Department of Surgery (8)
  • Division of Adolescent Medicine (8)
  • Division of Emergency Medicine (8)
  • Division of Gastroenterology, Hepatology, and Nutrition (8)
  • Division of Pulmonary and Sleep Medicine (8)
  • PennCHOP Microbiome Program (8)
  • Advancement of Hyperinsulinism Care and Research (7)
  • Cell and Gene Therapy Collaborative (7)
  • Comprehensive Bone Marrow Failure Center (7)
  • De León-Crutchlow Laboratory (7)
  • Leukodystrophy Center of Excellence (7)
  • Minds Matter Concussion Program (7)
  • Center for Violence Prevention (6)
  • CHOP Microbiome Center (6)
  • Institutional Review Board (6)
  • Clinical Research Support Office (5)
  • Division of General Pediatrics (5)
  • Division of Nephrology (5)
  • Intellectual and Developmental Disabilities Research Center (5)
  • Lurie Family Foundations MEG Imaging Center (5)
  • Translational Research Program in Pediatric Orthopaedics (5)
  • Akizu Laboratory (4)
  • Center for Applied Genomics Laboratory (4)
  • Center for Child Injury Prevention Studies (4)
  • Center for Human Phenomic Science (4)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (4)
  • Division of Cancer Pathobiology (4)
  • Division of Neurosurgery (4)
  • Division of Plastic, Reconstructive and Oral Surgery (4)
  • Division of Rheumatology (4)
  • eMERGE (4)
  • Friedreich’s Ataxia Center of Excellence (4)
  • Penn-CHOP Kidney Innovation Center (4)
  • Rivella Laboratory (4)
  • Sleep Center (4)
  • Song Laboratory (4)
  • Almasy Laboratory (3)
  • Bhoj Laboratory (3)
  • Brain-Gene-Development Lab (3)
  • Clinical Vector Core (3)
  • Division of Ophthalmology (3)
  • Division of Protective Immunity (3)
  • Inflammatory Bowel Disease Center (3)
  • Jill and Mark Fishman Center for Lymphatic Disorders (3)
  • Maris Laboratory (3)
  • Metabolism, Nutrition, and Physical Development Research Affinity Group (3)
  • mHealth Research Affinity Group (3)
  • Office of Faculty Development (3)
  • Pediatric Center of Excellence in Nephrology (3)
  • Research Creative Services (3)
  • Romberg Laboratory (3)
  • Silverman Laboratory (3)
  • Spatial and Functional Genomics Research Affinity Group (3)
  • St. Geme Laboratory (3)
  • Thyroid Center (3)
  • Aquatic Zebrafish Core (2)
  • Beckwith-Wiedemann Syndrome Program of Excellence (2)
  • Bernt Laboratory (2)
  • Campbell Laboratory (2)
  • Center for Pediatric Airway Disorders (2)
  • Chronic Kidney Disease in Children Study (2)
  • Clinical In Vivo Gene Therapy (2)
  • Davidson Laboratory (2)
  • DBHi Bioinformatics (2)
  • Developmental Biology Research Affinity Group (2)
  • Food Allergy Center (2)
  • Grant Laboratory (2)
  • Heuckeroth Laboratory (2)
  • Hill Laboratory (2)
  • Immune Dysregulation Program (2)
  • Innovation Ecosystem (2)
  • Marks Laboratory (2)
  • Mossé Laboratory (2)
  • Pennsylvania Pediatric Medical Device Consortium (2)
  • Research Vector Core (2)
  • Shalem Laboratory (2)
  • Vanderver Laboratory (2)
  • Wallace Laboratory (2)
  • Wells Laboratory (2)
  • West Philadelphia Asthma Care (2)
  • Wolfson Family Laboratory for Clinical and Biomedical Optics (2)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (2)
  • Ahrens-Nicklas Laboratory (1)
  • Bailis Laboratory (1)
  • Biorepository Resource Center (1)
  • Blobel Laboratory (1)
  • Bosse Laboratory (1)
  • CAG Sequencing Core (1)
  • Camire Laboratory (1)
  • Center for Pediatric Heart Valve Disorders (1)
  • CHOP Cardiovascular Institute (1)
  • Computational Epigenetics (1)
  • Cystic Fibrosis-Related Diabetes Research Program (1)
  • Division of Cell Pathology (1)
  • Division of Developmental and Behavioral Pediatrics (1)
  • Division of Fetal Imaging (1)
  • Division of Neuroradiology (1)
  • Division of Otolaryngology (1)
  • Division of Rehabilitation Medicine (1)
  • Division of Urology (1)
  • Eisch Laboratory (1)
  • Fetal Biology and Therapy Research Affinity Group (1)
  • Feudtner Laboratory (1)
  • Fred and Suzanne Biesecker Pediatric Liver Center (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • George Laboratory (1)
  • Global Health Research Affinity Group (1)
  • Goldberg Laboratory (1)
  • Hamilton Laboratory (1)
  • Helbig Laboratory (1)
  • Henrickson Laboratory (1)
  • IDDRC Neuroimaging and Neurocircuitry Core (1)
  • Izumi Laboratory (1)
  • Krantz Laboratory (1)
  • Kurre Laboratory (1)
  • Lefebvre Laboratory (1)
  • Levine Laboratory (1)
  • Lin Laboratory (1)
  • Ma Laboratory for Immune Engineering (1)
  • Margaritis Laboratory (1)
  • MetaCHOP Research Affinity Group (1)
  • Mitochondria 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)
  • Pacifici Laboratory (1)
  • Pediatric Research Consortium (1)
  • Pediatric Research in Office Settings (1)
  • PEDSnet (1)
  • Research Information Services (1)
  • Samelson-Jones Laboratory (1)
  • Single Cell Technology Core (1)
  • Spinner Laboratory (1)
  • Stress Neurobiology Program (1)
  • Sullivan Laboratory (1)
  • The Resuscitation Science Center (1)
  • Thomas-Tikhonenko Laboratory (1)
  • Tsui Laboratory (1)
  • Wolfe Lab (1)
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