Biomarkers: Peripheral blood-based molecular signatures

Initiate studies to link peripheral blood-based molecular signatures and central imaging and CSF biomarkers.

2020 PAR-15-359: Novel Approaches to Diagnosing Alzheimer's Disease & Predicting Progression (R01) PAR-17-054: Leveraging Existing Cohort Studies to Clarify Risk and Protective Factors for Alzheimer’s Disease and Related Dementias (R01) RFA-AG-15-010: Interdisciplinary Research to Understand the Vascular Contributions to Alzheimer's Disease (R01) RFA-AG-15-011: Biomarkers of Alzheimer’s Disease in Down Syndrome (R01) RFA-AG-18-013: Continuation of the AMP AD Target Discovery and Preclinical Validation Consortium NOT-AG-18-053: Notice to Specify High-Priority Research Topic for PAR-19-070 and PAR-19-071 PAR-23-258: Analytical and Clinical Validation of Biomarkers for Alzheimer’s Disease (AD) and AD-Related Dementias (ADRD) (U01 Clinical Trial Optional) 9.G Achieved DN 2012 AD Summit: 1F and 1G News: NIH Supports new studies to find Alzheimer’s biomarkers in Down Syndrome News: Decoding the molecular ties between vascular disease and Alzheimer’s News: Blood test method may predict Alzheimer's protein deposits in brain News: Additional study points to potential promise of plasma NfL as a biomarker for familial Alzheimer’s disease Small Business Spotlight: C₂N Diagnostics’ blood test detects Alzheimer’s Workshop: Opportunities and Challenges in the Use of Blood-Based Biomarkers in Clinical Research and Population Studies on Alzheimer's Disease (AD) and AD-Related Dementias Research in Context: Can we slow aging? Alzheimer’s Biomarkers Consortium – Down Syndrome (ABC-DS) Molecular Mechanisms of the Vascular Etiology of Alzheimer's Disease (M²OVE-AD) Consortium FNIH Biomarkers Consortium Launches a Project to Select Blood Tests that Detect Early Alzheimer's Disease Diabetes and brain amyloid in middle aged Hispanics 2016

Identification of 3 peripheral blood-based molecular signatures that have a high correlation with central imaging and/or CSF biomarkers.

Summary of Key Accomplishments

Research supported by NIA led to the discovery and ongoing standardization/validation of plasma amyloid, tau, and neurofilament light chain (NfL) biomarkers, reflecting accumulation of amyloid and tau in the brain and neurodegeneration. NIA supports a growing portfolio of projects focused on using genomic technologies (transcriptomic, proteomic, metabolomic) to discover blood-based and CSF-based biomarkers that can be used for diagnosis, prognosis, or as biomarkers of treatment response. These include projects that are using single-cell molecular profiling technologies.

Studies supported through the Accelerating Medicines Partnership for Alzheimer’s Disease (AMP AD) have identified multiple blood and CSF metabolite-based and protein-based signatures that correlate with CNS imaging biomarkers for AD for early and advanced stages of the disease.

NIA supports the Study to Understand Novel Biomarkers in Researching Dementia (SUNBIRD), which focuses on evaluating the diagnostic and prognostic potential of multiple blood-based biomarkers by comparing them to “gold standard” imaging- and CSF-based biomarkers for amyloid beta, tau, and neurodegeneration. SUNBIRD will also examine how demographic, genetic and other factors influence the performance of blood-based biomarkers. NIA previously supported SUNBIRD’s predecessor, SEABIRD, which helped to validate a key peripheral blood-based biomarker that relates closely to imaging- and CSF-based biomarkers of amyloid beta accumulation in the brain.

The key accomplishments summary is current as of September 2025.