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The  MAPT  locus is defined by two major genetic haplotypes, called H1 and H2.  Genetic associations have been identified between H1 haplotype polymorphisms and several neurodegenerative diseases including Progressive Supranuclear Palsy, Corticobasal Degeneration, and Parkinson’s Disease. Despite consistent and strong association of the H1 haplotype with neurodegeneration, the H1 polymorphisms which confer susceptibility to neurodegenerative disease have not been defined.  Our laboratory is interested in the hypothesis that polymorphisms within the  MAPT  haplotype sequence have functional consequences on  MAPT  expression and function.  We propose that these functional effects, however subtle, over-time, lead to a greater susceptibility to neurodegenerative disease.    To examine this hypothesis, we generate genetic tools by harnessing homologous recombination in bacteria to modify whole genomic locus expression vectors.  Recent advancements in genome editing technology have also made it possible for us to use the  CRISPR /Cas9 system to generate gene edited human induced pluripotent cells.

If you have a question about this talk, please contact Sarah Noujaim.