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 Chief, Inherited Disease Research Branch
William J. Pavan, Ph.D.
Senior Investigator, Genetic Disease Research Branch
Head, Mouse Embryology Section
Leslie G. Biesecker, M.D.
Senior Investigator, Genetic Disease Research Branch
Head, Human Development Section
Pamela L. Schwartzberg, M.D.
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
Sharon Suchy, Ph.D.
Associate Investigator, Genetic Disease Research Branch
Research Project Web Sites
Lowe Syndrome Mutation Database
Pallister-Hall Syndrome