Molecular Gene Expression Testing to Identify Alzheimer's Disease with High Accuracy from Fingerstick Blood

Area of Science:

• Neuroscience
• Molecular Biology
• Biomarker Discovery

Background:

• Currently, no definitive molecular test exists for Alzheimer's disease (AD) using self-collected samples.
• Accessible diagnostic methods are crucial for early detection and management of neurodegenerative diseases.

Purpose of the Study:

• To develop and validate an accurate molecular diagnostic test for AD and Parkinson's disease (PD) using minimally invasive fingerstick blood samples.
• To assess the feasibility of using self-collected or clinic-collected dried blood spots for disease classification.

Main Methods:

• Fingerstick blood samples from AD, PD, and control patients were collected on filter paper.
• TempO-Seq® gene expression profiling was employed to identify disease-specific gene signatures.
• Machine learning algorithms were trained and tested on three independent patient cohorts.

Main Results:

• A minimal set of 68 genes accurately classified patients with AD (AUC=0.9) and PD (AUC=0.94).
• The TempO-Seq® test demonstrated high accuracy in distinguishing between AD, PD, and controls.

Conclusions:

• The TempO-Seq® gene expression test holds potential as a screening or definitive molecular diagnostic tool for AD and PD.
• This minimally invasive approach using dried blood spots could significantly improve diagnostic accessibility and address health disparities.
• Further research is needed to determine if this test can enable earlier AD classification compared to cognitive assessments.