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Allen E. Bale |
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| Associate Professor of Genetics; Director, DNA Diagnostic Laboratory; Director, Cancer Genetics Program: |
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* B.S. Massachusetts Institute of Technology, 1975
* M.D. University of Massachusetts, 1979
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| Research Interests: | |
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* Molecular Mechanisms of Cancer Predisposition and Developmental Defects
* DNA Diagnostics
My laboratory focuses on the relationship between neoplasia and development. We are interested
in the molecular basis for hereditary syndromes that involve both cancer predisposition and birth
defects. As the director of the DNA diagnostics laboratory, I am also involved in developing new
techniques for the diagnosis of human genetic disorders.
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| Current Research | |
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Genes involved in carcinogenesis often play a critical role in embryonic development and cellular
differentiation. My laboratory focuses on analyzing the normal function of these genes and the mechanisms
by which mutations lead to cancer. One emphasis of the laboratory is the gene underlying the nevoid basal
cell carcinoma syndrome (NBCCS), an autosomal dominant disorder characterized by skin cancer, ovarian tumors,
and brain tumors as well as developmental defects of the brain, bones, and teeth. We isolated the NBCCS gene
by positional cloning and showed that it is homologous to Drosophila "patched". The Drosophila version of this
gene encodes a cell surface protein that plays a role in segment polarity; i.e., distinguishing anterior from
posterior in the developing fly. My laboratory is exploiting Drosophila and mouse models to develop new
therapeutics to treat the cancers associated with patched mutations. Other disease genes under study in
human and in Drosophila models include MEN1 (multiple endocrine neoplasia type 1) and BRCA1 (the main
gene responsible for hereditary breast cancer).
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| A second area of interest is the application of new molecular techniques to clinical diagnosis of cancer
predispostion syndromes, inborn errors of metabolism, muscular dystrophy, and fragile X-related mental
retardation. Through collaboration with other investigators in the Department of Genetics and elsewhere in
the medical school, we carry the most recent discoveries about genetic disorders and novel methodology from
the research laboratory to the medical setting.
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A hypothetical two-hit mechanism for developmental
defects in Gorlin syndrome. An affected fetus inherits a germ-line mutation in one copy of the Gorlin syndrome
gene. Through somatic mutations, cells in the developing fetus undergo a second hit resulting in dysregulated
clones. These clones give rise to focal developmental defects such as jaw cysts, bifid ribs, and spina bifida
occulta. Molecular studies showing allelic loss in jaw cysts support this model. | |
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| Representative Publications: | | |
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Petty EM, Glynn M, Bale AE. Direct Molecular Diagnosis of Multiple Endocrine Neoplasia. Methods in Molecular Medicine 49:227-242, 2000.
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| Contact Information: | | |
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