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Results for Genetic Disorders of Growth

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1 - 10 of 72

Adda Grimberg, MD
Adda Grimberg

Dr. Grimberg investigates the growth hormone (GH)/insulin-like growth factor (IGF)-I axis and clinical issues related to child growth. Her recent research is focused on disparities in, and the decision-making related to, the medical management of children with short stature. She is fascinated by how differential societal pressures for tallness and the advent of an expensive therapeutic have transformed a fundamental aspect of pediatric healthcare.

E-mail:
grimberg [at] chop.edu
Shana E. McCormack, MD, MTR
Shana E. McCormack

Dr. McCormack investigates the intersection of neuroendocrinology and metabolism. Her translational research program involves two areas. The first involves studying those with genetic disorders, including primary mitochondrial diseases and Friedreich's ataxia, with characterized risk for diabetes mellitus. Second, Dr. McCormack focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension.

E-mail:
mccormacks1 [at] chop.edu
Maurizio Pacifici, PhD
Maurizio Pacifici

Dr. Pacifici's biomedical research spans three decades and has explored mechanisms of skeletal development and growth in fetal and postnatal life. Specifically, his focus has been on identifying the cellular and molecular mechanisms that regulate the differentiation of progenitor cells and permit assembly of distinct skeletal structures, and on aberrations of these mechanisms in pediatric skeletal disorders.

E-mail:
pacificim [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
Robert O. Heuckeroth, MD, PhD
Robert O. Heuckeroth

Dr. Heuckeroth investigates mechanisms controlling bowel motility in order to find new ways to treat, diagnose, and prevent intestinal motility disorders. His research is focused on enteric nervous system and smooth muscle biology as he works to find new ways to improve the lives of children with bowel motility disorders.

E-mail:
heuckerothr [at] chop.edu
Jennifer M. Kalish, MD, PhD
Jennifer M. Kalish

Dr. Kalish's research focuses on understanding the molecular and epigenetic mechanisms that contribute to the predisposition to cancer that is characteristic of pediatric patients with rare imprinted gene disorders, including the overgrowth disorder Beckwith-Wiedemann syndrome (BWS).

E-mail:
kalishj [at] chop.edu

In the News: Novel Genetic Disorder, ‘Peanut Patch,’ Neonatal Outcomes, Seed Grants

Published on
May 12, 2023
in Cornerstone Blog
In the News: Novel Disorder, ‘Peanut Patch,’ Neonatal Outcomes, Seed Grants
Learn about a novel disorder caused by rare genetic variants, the importance of global neonatal outcomes, and more, in this week’s edition of In the News.

In the News: ASCI Membership, STAT Madness, Brain Chart, Single Ventricle Research Fund

Published on
Mar 3, 2023
in Cornerstone Blog
In the News: ASCI Membership, STAT Madness, Brain Chart
In this news roundup, learn about the achievements of CHOP researchers from societal inductions to grant- and grand-prize recipients.

In the News: Foundational Gift, Gates Grant, Community-engaged Research

Published on
Feb 17, 2023
in Cornerstone Blog
In the News: Foundational Gift, Community Partnerships
In this news roundup, learn how CHOP researchers are advancing research for neurological diseases and engaging in community collaborative research.

In the News: Autism and COVID, Telemedicine, Hemoglobin, Williams Syndrome, AYAs

Published on
Jun 10, 2022
in Cornerstone Blog
In the News
This week’s news roundup features discoveries related to COVID-19’s effect on adolescents, autism screening, telemedicine, and more.
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In this section

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  • Principal Investigator / Faculty (6)

Organizations

  • Division of Human Genetics (11)
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  • Leukodystrophy Center of Excellence (2)
  • Minds Matter Concussion Program (2)
  • Roberts Individualized Medical Genetics Center (2)
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  • Advancement of Hyperinsulinism Care and Research (1)
  • Beckwith-Wiedemann Syndrome Program of Excellence (1)
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  • Center for Applied Genomics Laboratory (1)
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  • Clinical Research Support Office (1)
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  • Division of Oncology (1)
  • Division of Plastic, Reconstructive and Oral Surgery (1)
  • Division of Protective Immunity (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Division of Urology (1)
  • Levine Laboratory (1)
  • Lifespan Brain Institute (1)
  • Mitochondrial Medicine (1)
  • Neonatal Chronic Lung Disease (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Rivella Laboratory (1)
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  • Vanderver Laboratory (1)

In this section

Filter By

  • Principal Investigator / Faculty (6)

Organizations

  • Division of Human Genetics (11)
  • Center for Autism Research (8)
  • Clinical Futures (8)
  • Center for Injury Research and Prevention (7)
  • PolicyLab (7)
  • Department of Pediatrics (6)
  • Division of Endocrinology and Diabetes (6)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (6)
  • Center for Childhood Cancer Research (5)
  • Center for Applied Genomics (4)
  • Department of Pathology and Laboratory Medicine (4)
  • Division of Allergy and Immunology (4)
  • Division of Hematology (4)
  • Department of Anesthesiology and Critical Care Medicine (3)
  • Division of Infectious Diseases (3)
  • Division of Neonatology (3)
  • Division of Orthopaedic Surgery (3)
  • Center for Violence Prevention (2)
  • Children’s Oncology Group (2)
  • Division of Nephrology (2)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (2)
  • Leukodystrophy Center of Excellence (2)
  • Minds Matter Concussion Program (2)
  • Roberts Individualized Medical Genetics Center (2)
  • Translational Research Program in Pediatric Orthopaedics (2)
  • Advancement of Hyperinsulinism Care and Research (1)
  • Beckwith-Wiedemann Syndrome Program of Excellence (1)
  • Brain-Gene-Development Lab (1)
  • Cancer Immunotherapy (CAR-T) (1)
  • Cell and Gene Therapy Collaborative (1)
  • Center for Applied Genomics Laboratory (1)
  • Center for Child Injury Prevention Studies (1)
  • Center for Computational and Genomic Medicine (1)
  • Center for Data-Driven Discovery in Biomedicine (1)
  • Center for Mitochondrial and Epigenomic Medicine (1)
  • Center for Pediatric Heart Valve Disorders (1)
  • CHOP Cardiovascular Institute (1)
  • Chronic Kidney Disease in Children Study (1)
  • Clinical Research Support Office (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Comprehensive Center for the Cure of Sickle Cell Disease and Other Red Blood Cell Disorders (1)
  • Congenital Hyperinsulinism Research Laboratory (1)
  • Davidson Laboratory (1)
  • Department of Biomedical and Health Informatics (1)
  • Division of Adolescent Medicine (1)
  • Division of Emergency Medicine (1)
  • Division of General Pediatrics (1)
  • Division of Neurology (1)
  • Division of Oncology (1)
  • Division of Plastic, Reconstructive and Oral Surgery (1)
  • Division of Protective Immunity (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Division of Urology (1)
  • Levine Laboratory (1)
  • Lifespan Brain Institute (1)
  • Mitochondrial Medicine (1)
  • Neonatal Chronic Lung Disease (1)
  • Pennsylvania Pediatric Medical Device Consortium (1)
  • Rivella Laboratory (1)
  • Shalem Laboratory (1)
  • Vanderver Laboratory (1)
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