NIH R01 · 2024
PROJECT SUMMARY/ABSTRACT We have identified somatic gene recombination (SGR) in neurons of the human brain, with particular relevance to sporadic Alzheimer’s disease (SAD) (Nature 563, 639-645 (2018)). This discovery represents a new and functionally significant aspect of genomic mosaicism (eLife;4:e05116 (2015)) that has genuine therapeutic potential through newly identified molecular targets. Indeed, we found that SGR, acting on the AD gene for Amyloid Precursor Protein (APP), produces thousands of distinct forms of APP, some of which are enriched in or unique to AD. The APP gene variations related to AD that were analyzed thus far include copy number variations (CNVs) and at least 11…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.
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