The human genome is subject to continuous DNA breakage from harmful radiation and chemicals in our environment and from internal sources of DNA damage. This is illustrated by genetic diseases in which the repair of broken DNA is defective, in which patients have childhood and/or progressive neurological disease. New work from our laboratory identifies unexpected levels of DNA breakage in specific regions of the genome that are important for neuron function. We propose these DNA breaks arise as a normal by-product of gene function, and which if not rapidly repaired can lead to neuron dysfunction, degeneration, and death. This work has important implications for understanding and treating neurodegenerative disease and given the frequency of DNA breakage possibly also for normal human aging and cancer.
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Dr. Nussenzweig is a world-renowned contributor to the study of mechanisms that maintain genomic stability and prevent cancer. His laboratory has elucidated many fundamental features of DNA damage and repair proteins and revealed the critical role they play in both normal and pathogenic states. His studies have emphasized the importance of DNA repair pathways as drivers and contributors to chemoresistance/sensitivity in breast and ovarian cancers. The overall goal of his program is to use hypothesis-driven approaches to develop therapeutic strategies in the treatment of cancers.
Dr. Nussenzweig is the recipient of numerous intramural and extramural awards. He is a NIH Distinguished Investigator, a member of EMBO and was recently elected to the National Academy of Medicine.
