Core G: Genetics & High Throughput Omics

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Core G: Genetics and High Throughput -Omics Project Summary Aging populations worldwide, particularly in developed countries, face an increasing burden of neurodegenerative diseases, particularly Alzheimer disease (AD), Frontotemporal dementia (FTD), and other AD-related dementias (ADRDs). Genetic studies have greatly contributed to our understanding of these complex diseases. Initial studies of a Mendelian form of AD resulted in the identification of mutations in the genes encoding β-amyloid precursor protein (APP), Presenilin 1 (PSEN1), and Presenilin 2 (PSEN2). Mutations in Granulin (GRN), Microtubule-Associated Protein Tau (MAPT), and C9orf72 have been identified as causes of FTD. These diseases are characterized by protein misfolding and aggregation, and also share some clinical and neuropathological characteristics. The promise of the twenty-first century is that we will be able to classify these diseases by the genetic cause or genetic risk factors. Furthermore, it is clear that studies beyond genetics, such as transcriptomics, proteomics, or epigegomics, are needed to fully understand the biology of AD and ADRDs, with the intention of identifying novel biomarkers and therapeutic targets. The goal of the Genetics and High Throughput -Omics Core at the Knight ADRC is to obtain, bank and QC biospecimens (DNA, RNA and plasma) from Knight ADRC participants. The Core shares these biospecimens with qualified investigators that will generate genetic or other -omic data for these samples. The Core also stores and harmonizes all genome-wide association study (GWAS), whole exome sequencing (WES), whole genome sequencing (WGS), transcriptomic, and proteomic data generated for Knight ADRC participants in order to guarantee the integrity and compatibility of the data so that these data can be shared with the scientific community.