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Medical Genetics Branch

The Medical Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators focus on human genetics, vertebrate embryology, inborn errors of metabolism, and neurogenetic disorders.

Overview

Projects performed at the biochemical, molecular, and cell biological levels involve the direct study of human subjects as well as the development and use of experimental model systems, such as zebrafish and mouse. The Branch fosters outstanding basic research and serves as a model for translational research, emphasizing the compassionate and scientifically rigorous application of basic science discoveries at the bedside. Branch researchers develop and test new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center.

To achieve their goals, MGB investigators use a variety of cutting-edge techniques to address questions regarding disease pathophysiology and human development. In addition to making extensive and selective use of genomic data, MGB researchers routinely capitalize on partnerships with key laboratories at NHGRI, NIH, and worldwide. The Branch attracts patients with rare disorders and engages in collaborations that have led to the acquisition of large sample sets from unique populations. Studies of these rare patients and populations have proven invaluable for advancing the mission of the Branch.

  • Overview

    Projects performed at the biochemical, molecular, and cell biological levels involve the direct study of human subjects as well as the development and use of experimental model systems, such as zebrafish and mouse. The Branch fosters outstanding basic research and serves as a model for translational research, emphasizing the compassionate and scientifically rigorous application of basic science discoveries at the bedside. Branch researchers develop and test new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center.

    To achieve their goals, MGB investigators use a variety of cutting-edge techniques to address questions regarding disease pathophysiology and human development. In addition to making extensive and selective use of genomic data, MGB researchers routinely capitalize on partnerships with key laboratories at NHGRI, NIH, and worldwide. The Branch attracts patients with rare disorders and engages in collaborations that have led to the acquisition of large sample sets from unique populations. Studies of these rare patients and populations have proven invaluable for advancing the mission of the Branch.

Branch Staff

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Ellen Sidransky, M.D.
  • Chief and Senior Investigator
  • Medical Genetics Branch
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Benjamin Solomon, M.D.
  • Clinical Director
  • Office of the Clinical Director
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Cynthia Tifft, M.D., Ph.D.
  • Deputy Clinical Director
  • Medical Genetics and Genomic Medicine Training Program
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William A. Gahl, M.D., Ph.D.
  • Director
  • Undiagnosed Diseases Program
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Dan Kastner, M.D., Ph.D.
  • NIH Distinguished Investigator
  • Medical Genetics Branch
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Lindsey A. Criswell, M.D., M.P.H., D.Sc.
  • Adjunct Investigator
  • Medical Genetics Branch
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Marjan Huizing, Ph.D.
  • Staff Scientist
  • Human Biochemical Genetics Section
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Ivona Aksentijevich, M.D.
  • Associate Investigator
  • Inflammatory Disease Section
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Suzanne Hart, Ph.D.
  • Deputy Director
  • Medical Genetics and Genomic Medicine Training Program
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Carsten G. Bonnemann, M.D.
  • Adjunct Investigator
  • Medical Genetics Branch
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Edward S. Giniger, Ph.D.
  • Adjunct Investigator
  • Medical Genetics Branch

Last updated: October 18, 2023