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Results for Gene Discovery

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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
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.

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
Hakon Hakonarson, MD, PhD
Hakon Hakonarson Headshot

Dr. Hakonarson is director of the Center for Applied Genomics and professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania. He leads a $40 million commitment from Children’s Hospital of Philadelphia to genomically characterize approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature, and Science.

E-mail:
hakonarson [at] chop.edu
Louis R. Ghanem, MD, PhD
Louis R. Ghanem, MD, PhD

Dr. Ghanem investigates the impact of transcriptional gene expression controls and mRNA processing upon the severity and progression of pediatric inflammatory bowel disease.

E-mail:
ghaneml [at] chop.edu
Garrett M. Brodeur, MD
Garrett M. Brodeur

Dr. Broedur’s research interests focus on nanoparticle drug delivery and cancer predisposition. He is also interested in identifying novel cancer predisposition genes, and developing enhanced surveillance techniques to identify cancer early in predisposed individuals with the hope of improving outcome and reducing side effects.

E-mail:
brodeur [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
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
Lakshmi Srinivasan, MD, FAAP
Lakshmi Srinivasan

Dr. Srinivasan is an attending neonatologist with the Pediatric Sepsis Program and the Division of Neonatology at Children's Hospital of Philadelphia. Her research focuses on biomarkers in neonatal inflammation and infection; and improving prediction, recognition and management of neonatal infections.

E-mail:
srinivasanl [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
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In this section

Filter By

  • Principal Investigator / Faculty (13)
  • Researcher / Lab Personnel (1)

Organizations

  • Department of Pediatrics (34)
  • Center for Applied Genomics (30)
  • Center for Childhood Cancer Research (27)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (27)
  • Center for Injury Research and Prevention (26)
  • Center for Autism Research (24)
  • Division of Oncology (23)
  • PolicyLab (19)
  • Department of Pathology and Laboratory Medicine (15)
  • Division of Human Genetics (14)
  • Division of Allergy and Immunology (13)
  • Center for Data-Driven Discovery in Biomedicine (12)
  • Division of Hematology (12)
  • Division of Neurology (12)
  • Center for Computational and Genomic Medicine (11)
  • Department of Biomedical and Health Informatics (11)
  • Division of Infectious Diseases (11)
  • Roberts Individualized Medical Genetics Center (11)
  • Clinical Futures (10)
  • Center for Spatial and Functional Genomics (8)
  • Cancer Immunotherapy (CAR-T) (7)
  • Center for Mitochondrial and Epigenomic Medicine (7)
  • Mitochondrial Medicine (6)
  • Office of Academic Training and Outreach Programs (6)
  • Division of Endocrinology and Diabetes (5)
  • Division of Neonatology (5)
  • Division of Nephrology (5)
  • Department of Anesthesiology and Critical Care Medicine (4)
  • Department of Radiology (4)
  • Division of Cancer Pathobiology (4)
  • Division of Emergency Medicine (4)
  • Division of Gastroenterology, Hepatology, and Nutrition (4)
  • Division of Orthopaedic Surgery (4)
  • Division of Pulmonary and Sleep Medicine (4)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (4)
  • Leukodystrophy Center of Excellence (4)
  • Lifespan Brain Institute (4)
  • Bhoj Laboratory (3)
  • Cell and Gene Therapy Collaborative (3)
  • Center for Applied Genomics Laboratory (3)
  • Children’s Oncology Group (3)
  • Clinical Vector Core (3)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (3)
  • Division of Adolescent Medicine (3)
  • Division of Neurosurgery (3)
  • Intellectual and Developmental Disabilities Research Center (3)
  • Lurie Family Foundations MEG Imaging Center (3)
  • Maris Laboratory (3)
  • PennCHOP Microbiome Program (3)
  • Rivella Laboratory (3)
  • Vaccine and Treatment Evaluation Unit (3)
  • Anderson Laboratory (2)
  • Bernt Laboratory (2)
  • Blobel Laboratory (2)
  • Center for Human Phenomic Science (2)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (2)
  • DBHi Bioinformatics (2)
  • Division of Cardiology (2)
  • Division of General Pediatrics (2)
  • Division of Protective Immunity (2)
  • Friedreich’s Ataxia Center of Excellence (2)
  • Jill and Mark Fishman Center for Lymphatic Disorders (2)
  • Minds Matter Concussion Program (2)
  • Mossé Laboratory (2)
  • PEDSnet (2)
  • Penn-CHOP Kidney Innovation Center (2)
  • Romberg Laboratory (2)
  • Thomas-Tikhonenko Laboratory (2)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (2)
  • Ahrens-Nicklas Laboratory (1)
  • Bosse Laboratory (1)
  • Brodeur Laboratory (1)
  • Center for Child Injury Prevention Studies (1)
  • Center for Pediatric Airway Disorders (1)
  • Center for Violence Prevention (1)
  • Choi Laboratory (1)
  • Chronic Kidney Disease in Children Study (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Congenital Hyperinsulinism Research Laboratory (1)
  • Davidson Laboratory (1)
  • Department of Surgery (1)
  • Division of Neuroradiology (1)
  • Division of Otolaryngology (1)
  • Division of Plastic, Reconstructive and Oral Surgery (1)
  • Division of Rheumatology (1)
  • eMERGE (1)
  • Fetal Biology and Therapy Research Affinity Group (1)
  • Food Allergy Center (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • Goldberg Laboratory (1)
  • Grant Laboratory (1)
  • Hamilton Laboratory (1)
  • Helbig Laboratory (1)
  • Hill Laboratory (1)
  • Innovation Ecosystem (1)
  • John Laboratory (1)
  • Jolley Laboratory (1)
  • Levine Laboratory (1)
  • MetaCHOP Research Affinity Group (1)
  • Mir Laboratory (1)
  • Neuroscience Research Affinity Group (1)
  • Office of Faculty Development (1)
  • Office of Technology Transfer (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Research Vector Core (1)
  • Shalem Laboratory (1)
  • Song Laboratory (1)
  • Spatial and Functional Genomics Research Affinity Group (1)
  • St. Geme Laboratory (1)
  • Stress Neurobiology Program (1)
  • Tasian Laboratory (1)
  • Thyroid Center (1)
  • Translational Research Program in Pediatric Orthopaedics (1)
  • Tsui Laboratory (1)
  • Vanderver Laboratory (1)
  • Wells Laboratory (1)
  • Wolfe Lab (1)

In this section

Filter By

  • Principal Investigator / Faculty (13)
  • Researcher / Lab Personnel (1)

Organizations

  • Department of Pediatrics (34)
  • Center for Applied Genomics (30)
  • Center for Childhood Cancer Research (27)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (27)
  • Center for Injury Research and Prevention (26)
  • Center for Autism Research (24)
  • Division of Oncology (23)
  • PolicyLab (19)
  • Department of Pathology and Laboratory Medicine (15)
  • Division of Human Genetics (14)
  • Division of Allergy and Immunology (13)
  • Center for Data-Driven Discovery in Biomedicine (12)
  • Division of Hematology (12)
  • Division of Neurology (12)
  • Center for Computational and Genomic Medicine (11)
  • Department of Biomedical and Health Informatics (11)
  • Division of Infectious Diseases (11)
  • Roberts Individualized Medical Genetics Center (11)
  • Clinical Futures (10)
  • Center for Spatial and Functional Genomics (8)
  • Cancer Immunotherapy (CAR-T) (7)
  • Center for Mitochondrial and Epigenomic Medicine (7)
  • Mitochondrial Medicine (6)
  • Office of Academic Training and Outreach Programs (6)
  • Division of Endocrinology and Diabetes (5)
  • Division of Neonatology (5)
  • Division of Nephrology (5)
  • Department of Anesthesiology and Critical Care Medicine (4)
  • Department of Radiology (4)
  • Division of Cancer Pathobiology (4)
  • Division of Emergency Medicine (4)
  • Division of Gastroenterology, Hepatology, and Nutrition (4)
  • Division of Orthopaedic Surgery (4)
  • Division of Pulmonary and Sleep Medicine (4)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (4)
  • Leukodystrophy Center of Excellence (4)
  • Lifespan Brain Institute (4)
  • Bhoj Laboratory (3)
  • Cell and Gene Therapy Collaborative (3)
  • Center for Applied Genomics Laboratory (3)
  • Children’s Oncology Group (3)
  • Clinical Vector Core (3)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (3)
  • Division of Adolescent Medicine (3)
  • Division of Neurosurgery (3)
  • Intellectual and Developmental Disabilities Research Center (3)
  • Lurie Family Foundations MEG Imaging Center (3)
  • Maris Laboratory (3)
  • PennCHOP Microbiome Program (3)
  • Rivella Laboratory (3)
  • Vaccine and Treatment Evaluation Unit (3)
  • Anderson Laboratory (2)
  • Bernt Laboratory (2)
  • Blobel Laboratory (2)
  • Center for Human Phenomic Science (2)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (2)
  • DBHi Bioinformatics (2)
  • Division of Cardiology (2)
  • Division of General Pediatrics (2)
  • Division of Protective Immunity (2)
  • Friedreich’s Ataxia Center of Excellence (2)
  • Jill and Mark Fishman Center for Lymphatic Disorders (2)
  • Minds Matter Concussion Program (2)
  • Mossé Laboratory (2)
  • PEDSnet (2)
  • Penn-CHOP Kidney Innovation Center (2)
  • Romberg Laboratory (2)
  • Thomas-Tikhonenko Laboratory (2)
  • Wyss/Campbell Center for Thoracic Insufficiency Syndrome (2)
  • Ahrens-Nicklas Laboratory (1)
  • Bosse Laboratory (1)
  • Brodeur Laboratory (1)
  • Center for Child Injury Prevention Studies (1)
  • Center for Pediatric Airway Disorders (1)
  • Center for Violence Prevention (1)
  • Choi Laboratory (1)
  • Chronic Kidney Disease in Children Study (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Congenital Hyperinsulinism Research Laboratory (1)
  • Davidson Laboratory (1)
  • Department of Surgery (1)
  • Division of Neuroradiology (1)
  • Division of Otolaryngology (1)
  • Division of Plastic, Reconstructive and Oral Surgery (1)
  • Division of Rheumatology (1)
  • eMERGE (1)
  • Fetal Biology and Therapy Research Affinity Group (1)
  • Food Allergy Center (1)
  • Genes, Genomics, and Pediatric Disease Affinity Group (1)
  • Goldberg Laboratory (1)
  • Grant Laboratory (1)
  • Hamilton Laboratory (1)
  • Helbig Laboratory (1)
  • Hill Laboratory (1)
  • Innovation Ecosystem (1)
  • John Laboratory (1)
  • Jolley Laboratory (1)
  • Levine Laboratory (1)
  • MetaCHOP Research Affinity Group (1)
  • Mir Laboratory (1)
  • Neuroscience Research Affinity Group (1)
  • Office of Faculty Development (1)
  • Office of Technology Transfer (1)
  • Ortiz-Gonzalez Laboratory (1)
  • Pediatric Center of Excellence in Nephrology (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Research Vector Core (1)
  • Shalem Laboratory (1)
  • Song Laboratory (1)
  • Spatial and Functional Genomics Research Affinity Group (1)
  • St. Geme Laboratory (1)
  • Stress Neurobiology Program (1)
  • Tasian Laboratory (1)
  • Thyroid Center (1)
  • Translational Research Program in Pediatric Orthopaedics (1)
  • Tsui Laboratory (1)
  • Vanderver Laboratory (1)
  • Wells Laboratory (1)
  • Wolfe Lab (1)
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