Identification and validation of novel cell-free DNA methylation-based biomarkers for diagnosis of Alzheimer’s disease and frontotemporal dementia progression in blood.

The main idea of this project is to develop a biomarker based on cell-free DNA methylation (cfDNAm) that can uniquely detect degeneration in specific brain regions in diseases like Alzheimer’s and frontotemporal dementia (FTD). This biomarker would be used to diagnose these diseases at early stages, even before symptoms appear, and could also serve as a prognostic marker and an objective outcome measure in clinical trials. The proposal is based on the concept that brain cells affected by these diseases release their DNA with a region-specific methylation pattern into the bloodstream, allowing for the identification of which brain regions are degenerating. In summary, the main idea is to use DNA methylation as an indicator for early diagnosis and monitoring of brain degeneration in Alzheimer’s and FTD.

PI: Carolina Ochoa-Rosales

Co-I: Hieab Adams, Claudia Duran-Aniotz, Agustín Ibáñez

Support: NAM/ANID

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