Understanding how the PrP protein changes in prion disease
Biomarkers and Mechanisms of PrP Misfolding, Mutation, and Deficiency
This project looks for signals in blood and spinal fluid and explains how the PrP protein goes wrong in people at risk for prion disease so treatments that lower PrP can be timed and monitored earlier.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Broad Institute, INC. NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project ID | NIH-11295424 on NIH RePORTER |
What this research studies
From a patient point of view, researchers will collect blood and cerebrospinal fluid from people who carry genetic risk for prion disease as well as from animal models infected before symptoms appear. They will use sensitive laboratory tests to find molecules that show when PrP starts to misfold, when PrP levels are too low, and when specific mutations change PrP biology. The team will compare human samples with pre-symptomatic rat and hamster samples to map how these markers change over time before symptoms start. Results will be used to interpret biomarker changes during early risk, and to help guide timing and safety monitoring for PrP-lowering treatments.
Who could benefit from this research
Good fit: Ideal candidates are people with known PRNP mutations or healthy relatives at genetic risk who can provide blood and/or cerebrospinal fluid before symptoms begin.
Not a fit: People without PrP-related risk (for example those with other unrelated neurological diseases) or those already far into symptomatic prion disease may not directly benefit from these early-stage biomarker findings.
Why it matters
Potential benefit: If successful, this work could let clinicians detect prion-related changes earlier and show whether PrP-lowering therapies are having the intended effect.
How similar studies have performed: Lowering PrP with antisense oligonucleotides has shown promise in preclinical work and is moving toward clinical testing, but highly sensitive biomarkers for the very earliest stages of prion disease remain largely unproven.
Where this research is happening
Cambridge, United States
- Broad Institute, INC. — Cambridge, United States (Active)
Researchers
- Principal investigator: Minikel, Eric Vallabh — Broad Institute, INC.
- Study coordinator: Minikel, Eric Vallabh
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.