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Division of Intramural Research
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Overview |
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Organizational Chart |
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Research Branches
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Research Investigators Profiles, publications, links |
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Clinical Research
Clinical trials, patient recruitment, IRB, FAQ, Overview |
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NHGRI Affiliated Centers
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Online Research Resources Developed at NHGRI
Databases, software, tools, more. |
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Division of Intramural Research Calendar
Workshops, conferences, seminar series, courses, more. |
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Books and Publications |
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Genetic Disease Research Branch
The overall focus of the Genetic Disease Research Branch is to identify the genetic abnormalities responsible for human disease, and to elucidate the mechanisms by which they cause defects in structure and function. Research efforts are ongoing for diseases of human development, particularly of the nervous and musculoskeletal systems, and for neurodegenerative disorders. Model systems, such as genetically altered mice and in vitro cell culture systems, are major components of these projects. Investigators in the branch are highly interdisciplinary, and rely on human and mouse genetics, transgenic technology, genome informatics, embryology, cell biology, neuroscience and biochemistry.
Principal Investigators
Robert L. Nussbaum, M.D.
Senior Investigator and Chief, Genetic Disease Research Branch
Senior Investigator and Acting Chief, Inherited Disease Research Branch
Head, Inborn Errors and Cell Biology Section
Leslie G. Biesecker, M.D.
Senior Investigator, Genetic Disease Research Branch
Head, Human Development Section
William J. Pavan, Ph.D.
Senior Investigator, Genetic Disease Research Branch
Head, Mouse Embryology Section
Pamela L. Schwartzberg, M.D., Ph.D.
Senior Investigator, Genetic Disease Research Branch
Head, Cell Signaling Section
Yingzi Yang, Ph.D.
Investigator, Genetic Disease Research Branch
Head, Developmental Genetics Section
Stacie Loftus, Ph.D.
Associate Investigator, Genetic Disease Research Branch Mouse Embryology Section
Sharon Suchy, Ph.D.
Associate Investigator, Genetic Disease Research Branch
Research Project Web Sites
Lowe Syndrome Mutation Database
Pallister-Hall Syndrome
Last Updated: August 2004
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