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Updated: Aug 20, 2025

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A Standardized Liquid Biopsy Preanalytical Protocol for Downstream Circulating-Free DNA Applications
Published on: September 16, 2022
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Cell-free DNA-based liquid biopsies in neurology
Hallie Gaitsch1, Robin J M Franklin2, Daniel S Reich3
1NIH-Oxford-Cambridge Scholars Program, Wellcome-MRC Cambridge Stem Cell Institute and Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 1TN, UK.
Brain : a Journal of Neurology
|November 21, 2022
Summary
Liquid biopsies using cell-free DNA show promise for diagnosing and monitoring neurological diseases. These advancements offer new diagnostic and prognostic tools for conditions like Alzheimer's and stroke.
Area of Science:
- Neuroscience
- Biomolecular analysis
- Genetics
Background:
- Liquid biopsies, particularly cell-free DNA (cfDNA), have revolutionized disease monitoring in oncology and prenatal medicine.
- Recent technological advances enable analysis of cell-sparse biofluids like cerebrospinal fluid (CSF).
- Epigenetic profiling allows cfDNA analysis for diseases lacking distinct mutations, including neurodegenerative and autoimmune disorders.
Approach:
- This review focuses on cell-free DNA as a primary liquid biopsy target.
- It examines methods for identifying and analyzing potential liquid biomarkers.
- Applications across various neurological conditions are discussed.
Key Points:
- Cell-free DNA liquid biopsies offer enhanced diagnostic and prognostic capabilities for neurological conditions.
- Applications span central nervous system (CNS) tumors, stroke, traumatic brain injury, Alzheimer's disease, epilepsy, multiple sclerosis, and neuroinfectious diseases.
- Epigenetic profiling expands liquid biopsy utility to non-mutational neurological diseases.
Conclusions:
- Liquid biopsies represent a significant advancement in neurological disease management.
- Further translation to clinical practice holds potential for improved patient outcomes.
- Challenges in clinical implementation and opportunities for enhancement are discussed.

