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Results for Genotyping

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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
Richard Aplenc, MD, PhD, MSCE
Richard Aplenc

Dr. Aplenc investigates ways to improve the outcomes of children with cancer, particularly acute myeloid leukemia, with clinical epidemiology studies and translational research.

E-mail:
aplenc [at] chop.edu
Sharon J. Diskin, PhD
Sharon J. Diskin

Dr. Diskin's research is focused on translational genomics in childhood cancers. Her laboratory seeks to identify the genetic basis of childhood cancers by combining quantitative computational methods with rigorous "wet-lab" experimental approaches. In parallel, she has developed, and is applying, a proteogenomic approach to identify novel immunotherapeutic targets for high-risk and relapsed pediatric malignancies.

E-mail:
diskin [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
Ran Barzilay, MD, PhD
Ran Barzilay

Dr. Barzilay aims to understand what drives variability in the development of brain and behavior of youths growing up under stress. He studies biological and environmental mechanisms leading to suicidal behavior, using big datasets of diverse genotyped youths with deep phenotyping of environment.

E-mail:
barzilayr [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
Justine Shults, PhD, MS
Justine Shults

Dr. Shults works to develop statistical methods for longitudinal data that include semi-parametric approaches to account for subject/cluster level associations and maximum likelihood-based approaches for simulation and analysis of discrete longitudinal outcomes that may have overdispersion.

E-mail:
shultsj [at] chop.edu

In the News: MIS-C, Heart Disease, Sleep Genes, Neonatal Resuscitation

Published on
Jan 20, 2023
in Cornerstone Blog
In the News
This week’s In the News highlights research on MIS-C, an association between serotonin and heart valve disease, a genetic basis for sleep disorders, and neonatal resuscitation guidelines.

Last Call for Posters: MidAtlantic Bioinformatics Conference

Published on
Aug 5, 2022
in Announcements
One Week Left to Submit Your Poster
One week left to submit your poster for the 2022 MidAtlantic Bioinformatics Conference.

Call for Posters-2022 MidAtlantic Bioinformatics Conference

Published on
Jun 13, 2022
in Announcements
Call for Posters-2022 MidAtlantic Bioinformatics Conference
Submit Your Poster for 2022 MidAtlantic Bioinformatics Conference
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In this section

Filter By

  • Principal Investigator / Faculty (7)
  • Research Administration (1)

Organizations

  • Center for Applied Genomics (12)
  • Department of Biomedical and Health Informatics (8)
  • CAG Genotyping Core (6)
  • Department of Pediatrics (5)
  • Division of Endocrinology and Diabetes (3)
  • Center for Childhood Cancer Research (2)
  • Center for Data-Driven Discovery in Biomedicine (2)
  • Center for Spatial and Functional Genomics (2)
  • Department of Pathology and Laboratory Medicine (2)
  • Division of Allergy and Immunology (2)
  • Division of Cardiology (2)
  • Division of Gastroenterology, Hepatology, and Nutrition (2)
  • Grant Laboratory (2)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (2)
  • Roberts Individualized Medical Genetics Center (2)
  • Wells Laboratory (2)
  • Almasy Laboratory (1)
  • Blobel Laboratory (1)
  • Center for Computational and Genomic Medicine (1)
  • Center for Injury Research and Prevention (1)
  • Clinical In Vivo Gene Therapy (1)
  • Clinical Research Support Office (1)
  • DBHi Bioinformatics (1)
  • Department of Surgery (1)
  • Division of Cancer Pathobiology (1)
  • Division of Human Genetics (1)
  • Division of Infectious Diseases (1)
  • Division of Neonatology (1)
  • Division of Nephrology (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • eMERGE (1)
  • Institutional Review Board (1)
  • Penn-CHOP Kidney Innovation Center (1)
  • Spatial and Functional Genomics Research Affinity Group (1)
  • Surveillance Epidemiology of Coronavirus (COVID-19) Under Research Exclusion (1)
  • Vanderver Laboratory (1)

In this section

Filter By

  • Principal Investigator / Faculty (7)
  • Research Administration (1)

Organizations

  • Center for Applied Genomics (12)
  • Department of Biomedical and Health Informatics (8)
  • CAG Genotyping Core (6)
  • Department of Pediatrics (5)
  • Division of Endocrinology and Diabetes (3)
  • Center for Childhood Cancer Research (2)
  • Center for Data-Driven Discovery in Biomedicine (2)
  • Center for Spatial and Functional Genomics (2)
  • Department of Pathology and Laboratory Medicine (2)
  • Division of Allergy and Immunology (2)
  • Division of Cardiology (2)
  • Division of Gastroenterology, Hepatology, and Nutrition (2)
  • Grant Laboratory (2)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (2)
  • Roberts Individualized Medical Genetics Center (2)
  • Wells Laboratory (2)
  • Almasy Laboratory (1)
  • Blobel Laboratory (1)
  • Center for Computational and Genomic Medicine (1)
  • Center for Injury Research and Prevention (1)
  • Clinical In Vivo Gene Therapy (1)
  • Clinical Research Support Office (1)
  • DBHi Bioinformatics (1)
  • Department of Surgery (1)
  • Division of Cancer Pathobiology (1)
  • Division of Human Genetics (1)
  • Division of Infectious Diseases (1)
  • Division of Neonatology (1)
  • Division of Nephrology (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • eMERGE (1)
  • Institutional Review Board (1)
  • Penn-CHOP Kidney Innovation Center (1)
  • Spatial and Functional Genomics Research Affinity Group (1)
  • Surveillance Epidemiology of Coronavirus (COVID-19) Under Research Exclusion (1)
  • Vanderver Laboratory (1)
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