Research Branches

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

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

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 [research.nhgri.nih.gov]

Pallister-Hall Syndrome [research.nhgri.nih.gov]

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Last Updated: February 27, 2012