Blood Based Diagnostics of Alzheimer's Disease.
Early detection of Alzheimer’s disease (AD) relies on identifying reliable biomarkers in blood. In our study, we focused on the methods of biomarker discovery rather than the biomarkers themselves. We aimed to examine how experimental design, phenotype contrasts, and analytical strategies influence discovery, while also introducing our Aptamarkers platform as a novel tool for identifying pathogenic epitopes specifically for a blood based diagnostics of Alzheimer’s Disease.
Summary
We show that all biomarker discovery programs fundamentally depend on contrasting phenotypes to detect meaningful differences. In our work, we explored how these contrasts vary based on biomarker type, including genetic markers, proteins, metabolites, non-coding RNA, and pathogenic epitopes. Using our Aptamarkers platform, we demonstrated the ability to identify pathogenic epitopes in an agnostic, non-hypothesis-driven manner, avoiding the constraints of pre-existing assumptions about disease mechanisms.
We highlight that limiting biomarker discovery to molecules already believed to play a role in AD pathophysiology imposes unnecessary constraints. By contrast, our approach uses complex contrasts and mathematical models to capture the multifactorial nature of Alzheimer’s disease, enabling the detection of novel biomarkers and patterns that traditional methods may miss.
Our study emphasizes that agnostic, data-driven biomarker discovery accelerates understanding of Alzheimer’s disease. By moving beyond hypothesis-based selection, researchers can uncover new, informative biomarkers. The Aptamarkers platform exemplifies how innovative technologies can enhance discovery, supporting earlier diagnosis and enabling more effective interventions.