Core F - Fluid Biomarkers and Genomics

Mount Sinai ADRC: Biomarkers and Genetics Core (Core F) – Research Summary One hundred years ago dementing illnesses were classified based upon their clinical presentation and neuropathology. The promise of the twenty first century is that we will be able to classify these same diseases by their molecular signatures measured from biofluids. With recent advancements in molecular technologies and analytical approaches we can classify neurodegenerative disorder pathologies with greater precision during life and quantify multiple contributing factors leading to dementia. Core F will use multi-modal approaches, including genetics and proteomics to advance early detection, risk stratification and better classifications of at-risk individuals into biologically informed groups. Our Core investigators are internationally renowned for work on fluid biomarkers, and genetic methods development for ADRD. The major goal of our efforts is to leverage genomic, fluid biomarkers and imaging data generated by our local ADRC in synergy with other ADRCs to build risk models for ADRD disease traits and outcomes. To achieve this goal, four specific aims are proposed. Our most fundamental Aim is to collect, process and bank plasma and DNA for broad sharing with the ADRD research community. Our second and third Aims include the quantification of disease contributions from an individual’s genome, via polygenic risk scores (PRS), incorporating risk identified by genome-wide association studies for AD, and quantification of AD risk and perturbed biological pathways from plasma. The fourth Aim of our proposal is central to the ADRC’s mission—training of the next generation of ADRD researchers. Our Core leadership is dedicated to sharing knowledge, training, and mentoring researchers in all aspects of our work. Our Core is highly integrated with other ADRC Cores and central to the work pursued by ADRD researchers at Mount Sinai, given the importance of plasma biomarkers and genetics for most clinical and translational studies in ADRD.