Identifying modifier genes of Alport Syndrome in Diversity Outbred mice and investigating the effect of reproduction on the progression of the disease.
I am a graduate student studying biomedical science through The University of Maine’s Graduate School of Biomedical Science and Engineering. Alport Syndrome (AS) is a rare genetic condition that is characterized by kidney disease, hearing loss, and eye abnormalities. Progressive loss of kidney function and end-stage kidney disease is common in individuals with AS, with the best treatment available being kidney transplantation. Although causal genes for AS are well characterized, individuals with AS that have similar genetic mutations still display a wide range of variation in kidney function and age of onset, suggesting modifier genes are responsible. I hope to identify some of these modifier genes in a large cohort of diverse mice that have AS. In addition to this, I am working to uncover what happens in the kidneys of these AS mice during pregnancy that may lead to differences in disease outcome.
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