HomeResearchIntramural ResearchResearch Branches at NHGRI Genetic Disease Branch

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

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Last Updated: August 2004