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Marshall S. Horwitz, M.D., Ph.D.

Professor of Pathology
Research Affiliate, Center on Human Development and Disability
horwitz@uw.edu
206-616-4566
University of Washington
Box 358056
Seattle, WA 98195-8058

Dr. Horwitz’s work involves hereditary predisposition to hematopoietic malignancy, including childhood forms. In particular, he and his group have identified several genes responsible for leukemia-predisposing congenital neutropenia and are employing molecular biological approaches in order to dissect their mechanism of action. Some of the hematological disorders that he studies have onset in childhood and some are associated with syndromic manifestations. For example, congenital neutropenia, depending upon which gene is responsible, may be associated with birth defects, including cardiac and urogenital malformations, and neurodevelopmental abnormalities as well as epilepsy. Treatment of hematological malignancies during childhood may also contribute to acquired developmental disabilities.

In a current project, Horwitz is investigating developmental cell fate. Although directed at a basic science level, it is aimed at improving understanding of embryonic development and therefore may provide insight into mechanisms ultimately contributing to developmental disabilities. DNA replication inevitably introduces mutations, particularly at repetitive sequences, every time a cell divides. It is thus possible to deduce the history of cell divisions by cataloging somatic mutations and phylogenetically reconstructing cell lineage. This approach has the potential to produce a complete mammalian cell fate map that, in principle, could describe the developmental lineage of any cell and help resolve outstanding questions of stem cell biology, tissue repair and maintenance, and the origin of birth defects.

Marshall Horowithz's Genome Sciences web page

University of Washington • Center on Human Development and Disability Box 357920 • Seattle WA 98195-7920 USA • 206-543-7701 •chdd@uw.edu