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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.

Branch Staff

Maximilian Muenke, M.D.
Maximilian Muenke, M.D.
  • Chief & Senior Investigator
  • Medical Genetics Branch
William A. Gahl, M.D., Ph.D.
William A. Gahl, M.D., Ph.D.
  • Director
  • Undiagnosed Diseases Program
Ellen Sidransky, M.D.
Ellen Sidransky, M.D.
  • Senior Investigator
  • Medical Genetics Branch
Cynthia Tifft, M.D., Ph.D.
Cynthia Tifft, M.D., Ph.D.
  • Deputy Clinical Director
  • Office of the Clinical Director
Diana W. Bianchi, M.D.
Diana W. Bianchi, M.D.
  • Senior Investigator
  • Medical Genetics Branch
Carsten G. Bonnemann, M.D.
Carsten G. Bonnemann, M.D.
  • Adjunct Investigator
  • Medical Genetics Branch
Raphaela Goldbach-Mansky, M.D.
Raphaela Goldbach-Mansky, M.D.
  • Adjunct Investigator
  • Medical Genetics Branch
Don Hadley, M.S., C.G.C.
Don Hadley, M.S., C.G.C.
  • Associate Director
  • Office of Clinical Liaison
Suzanne Hart, Ph.D.
Suzanne Hart, Ph.D.
  • Associate Investigator
  • Medical Genetics Branch
Marjan Huizing, Ph.D.
Marjan Huizing, Ph.D.
  • Staff Scientist
  • Medical Genetics Branch
Erich Roessler, M.D., Ph.D.
Erich Roessler, M.D., Ph.D.
  • Associate Investigator
  • Medical Genetics Branch

Last updated: January 24, 2018