lunes, 18 de septiembre de 2017

Medical Genetics Branch - National Human Genome Research Institute (NHGRI)

Medical Genetics Branch - National Human Genome Research Institute (NHGRI)

NIH National Human Genome Research Institute

Medical Genetics Branch

Early zebrafish embryo development - Eye iris transilllumination showing albinism - Fibroblast cells in culture

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. 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.

Chief & Senior Investigator

Maximilian Muenke, M.D.
Head, Medical Genetics Branch
Head, Human Development Section
Director, Combined Pediatrics and Medical Genetics Residency Training Program

Senior Investigators

William A. Gahl, M.D., Ph.D.
Senior Investigator, Medical Genetics Branch
Clinical Director, NHGRI
Director, Undiagnosed Diseases Program
Head, Human Biochemical Genetics Section
Ellen Sidransky, M.D.
Senior Investigator, Medical Genetics Branch
Head, Molecular Neurogenetics Section

Associate Investigators 

Cynthia J. Tifft, M.D., Ph.D.
Associate Investigator, Medical Genetics Branch
Deputy Clinical Director, NHGRI

Adjunct Investigators

Diana W. Bianchi, M.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development
Carsten G. Bönnemann, M.D. 
Senior Investigator and Chief
Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch
National Institute of Neurological Disorders and Stroke (NINDS)
Raphaela Goldbach-Mansky, M.D., M.H.S. 
Investigator, Pediatric Translational Research Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Investigator and Acting Chief, Translational Autoinflammatory Disease Section, NIAMS

Staff Scientist

Donald W. Hadley, M.D., C.G.C.
Deputy Director, NIH Medical Genetics & Genomics Residency and Metropolitan
Washington DC Medical Biochemical Genetics Residency
Suzanne Hart, Ph.D. 
Deputy Director, Medical Genetics Residency and Fellowship Training Programs
Marjan Huizing, Ph.D.
Head, Cell Biology of Metabolic Disorders Unit
Erich Roessler, M.D., Ph.D.
Human Development Section 

Training and Career Development Resources

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