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The lab has several ongoing projects aimed at harnessing information on gene expression levels and disease risk. The goal is to identify and characterize novel genes, transcripts and genetic risk variants for late-onset Alzheimer's disease.
The long-term goal of this project is to uncover the pathophysiology of progressive supranuclear palsy and the molecular substrates of its subtypes. The hope is that this work will ultimately lead to drug discoveries.
Dr. Ertekin-Taner and her colleagues are exploring the role gene expression changes in the brain in Alzheimer's disease. The team is working to identify genes with altered methylation patterns and evaluate gene promoter regions to identify genes under strong epigenetic control that may be relevant to disease.
In this study, the team will leverage study data to identify pairs of single nucleotide polymorphisms that associate with brain gene expression measures. The goal is to identify additional genetic factors that might influence Alzheimer's disease risk through alterations in gene expression.
By examining the gene pair leucine rich repeat transmembrane neuronal 3 (LRRTM3) and alpha 3 catenin (CTNNA3), the laboratory aims to elucidate the functional consequences of modifications in expression levels of genes and specific isoforms implicated in Alzhemier's disease.
This study investigated the association of genetic risk factors for late-onset Alzheimer's disease with risk of posterior cortical atrophy (PCA). This work has been published, and the lab is analyzing an additional 11 novel Alzheimer's disease risk loci via meta-analysis.
The lab assessed the association of the top nine GWAS variants and the apolipoprotein ε4 (APOE ε4) allele with memory, as well as progression to mild cognitive impairment and late-onset Alzheimer's disease. The lab is now investigating the effect on memory decline of 11 novel Alzheimer's disease risk loci.
Projects in Dr. Ertekin-Taner's Genetics of Alzheimer's lab are funded by grants from several entities.
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