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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 CIDR, NCGC, NISC
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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 Genetic Disease Research Branch (GDRB) seeks to identify the genetic abnormalities responsible for human disease and to elucidate the mechanisms by which these abnormalities cause defects in the structure and function of gene products. The Branch also has a major focus on understanding how disruptions in signaling pathways and transcription factors may contribute to disease.
GDRB investigators use human and mouse genetics to identify and clarify the pathways of both human genetic diseases and normal development. Model systems, such as genetically altered mice and in vitro cell culture systems, are major components of these investigations. Ongoing efforts include research aimed at understanding the genetic components of a number of human developmental diseases, particularly of the nervous, immune, and musculoskeletal systems. There also is a heavy emphasis on human neurodegenerative disorders.
Senior Investigators
Leslie G. Biesecker, M.D.
Chief and 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.
Senior Investigator, Genetic Disease Research Branch
Head, Developmental Genetics Section
Associate Investigators
Stacie Loftus, Ph.D.
Associate Investigator, Genetic Disease Research Branch Mouse Embryology Section
Research Project Web Sites
Lowe Syndrome Mutation Database [research.nhgri.nih.gov]
Pallister-Hall Syndrome [research.nhgri.nih.gov]
Last Reviewed: June 16, 2008
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