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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.

Chief and Senior Investigator

William J. Pavan, Ph.D.
Genetic Disease Research Branch
Head, Genomics, Development and Disease Section

Senior Investigator

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


Meru Sadhu, Ph.D.
Genetic Disease Research Branch
Head, Systems Biology and Genome Engineering Section

Adjunct Investigators

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

Staff Scientists

Stacie Loftus, Ph.D.
Genomics, Development and Disease Section 
Genetic Disease Research Branch

Lisa Garrett, M.S.
Director, NHGRI Embryonic Stem Cell and Transgenic Mouse Core Facility
Genetic Disease Research Branch

Research Project Web Sites

Lowe Syndrome Mutation Database
Pallister-Hall Syndrome

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Last Updated: October 19, 2018

See Also:

Technology Transfer Office