Biomarker discovery

A biomarker is a measurable biological characteristic that indicates a normal biological process, a disease process, or the response to a treatment. In simpler terms, it is a “signal” in the body that helps identify health status, disease risk, or how someone is responding to an intervention.

DNA cannot capture most of disease risk and drug response. Proteins are frequently the first responders. Deep, unbiased MS-based proteomics is a powerful tool to characterize samples of interest and identify novel biomarkers.

Typically, biomarker discovery starts with minimally invasive or non-invasive biofluids such as blood plasma, serum, whole blood, urine, CSF, or saliva. Blood and its components reflect our health and disease state because they circulate throughout the body and carry information in the form of proteins that can be analyzed for biomarker discovery.

Biofluids that are closer to the disease site can be especially informative. For example, urine is promising in renal diseases and can also reflect systemic changes through plasma filtration. CSF is frequently analyzed in neurodegenerative diseases, and tissue samples can also be highly valuable biomarker sources, either as biopsy material or for generating initial candidates that can later be followed up in disease-relevant matrices.

For neurodegenerative diseases, the company Noselab has developed innovative sampling technologies to access the “window to the brain.”

For most body fluids, controlling sample quality is one of the most critical steps. We have also published a quality-control series of scientific notes on this topic. ions.bio has established quality-control markers and strategies across multiple biomarker source types.

The hard part is not generating a list of biomarker candidates; it is distinguishing true biological signal from batch effects and noise. That is where disciplined study design and rigorous QC make the difference.