How genetic changes alter proteins in the body
Investigating the functional impact of genetic variants in the human proteome
['FUNDING_OTHER'] · MAYO CLINIC ROCHESTER · NIH-11385427
Using advanced protein measurements, researchers will look for which genetic changes change protein levels in people with cancers and genetic disorders like amyloidosis.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MAYO CLINIC ROCHESTER (nih funded) |
| Locations | 1 site (ROCHESTER, UNITED STATES) |
| Trial ID | NIH-11385427 on ClinicalTrials.gov |
What this research studies
You would be part of work that measures proteins precisely to find small pieces that contain genetic changes. The team uses a high-resolution mass spectrometry method (DIA-MS) and will build new computer tools to better detect and interpret those variant-containing peptides. They will compare samples from people and tumors over time and partner with clinics to study patients with amyloidosis. The goal is to connect specific genetic variants to real protein changes that matter for diagnosis or care.
Who could benefit from this research
Good fit: Ideal candidates are people with amyloidosis or cancer who are seen at participating clinics and can provide blood or tissue samples for protein and genetic testing.
Not a fit: People without relevant genetic conditions or those unwilling to provide samples are unlikely to see direct benefits from this project.
Why it matters
Potential benefit: This work could help doctors identify disease-causing genetic changes more accurately and improve diagnosis or treatment options, especially for amyloidosis and some cancers.
How similar studies have performed: Previous work shows DIA-MS can reliably detect peptides with genetic variants, but applying these measurements clinically and creating interpretation tools is still a developing area.
Where this research is happening
ROCHESTER, UNITED STATES
- MAYO CLINIC ROCHESTER — ROCHESTER, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SEARLE, BRIAN CHIH-SENG — MAYO CLINIC ROCHESTER
- Study coordinator: SEARLE, BRIAN CHIH-SENG
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions: Cancers, Disease, Disorder