Genetic Disease Research Branch

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Genetic Disease Research Branch

Fluorescently stained cells - Ocular defect in Zebrafish model caused by BCOR mutation - Photomicrograph of primary mouse neural crest stem cell cultures

Genetic Disease Research Branch (GDRB) investigators study the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. A major focus for their research lies in understanding how disruptions in signaling pathways and transcription factors contribute to disease.

GDRB investigators use genetics and genomic approaches in both human and mouse systems to identify and better understand pathways involved in human genetic diseases and normal development. Model systems, including genetically altered mice and in vitro cell and organ culture systems, are major components of these investigations. Ongoing efforts include research aimed at understanding genetic contributions to a number of human diseases, particularly those affecting the nervous, immune and musculoskeletal systems. As a major emphasis of their work, GDRB investigators use genetic and genomic tools to understand normal development and differentiation.
 

Senior Investigators

Pamela L. Schwartzberg, M.D., Ph.D.
Chief and Senior Investigator, Genetic Disease Research Branch
Head, Cell Signaling and Immunity Section

William J. Pavan, Ph.D.
Senior Investigator, Genetic Disease Research Branch
Head, Genomics, Development and Disease Section
Director, Intramural Training Office

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

Adjunct Investigators

Brian P. Brooks, M.D., Ph.D.
Director, Ophthalmic Genetics Clinic
Children's National Medical Center
National Eye Institute

Douglas R. Stewart, M.D.
Investigator, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics
National Cancer Institute

Research Project Web Sites

Lowe Syndrome Mutation Database
Pallister-Hall Syndrome

Top of page

Last Updated: May 18, 2014