Finding which genetic changes affect heart and blood health using precise CRISPR editing
Comprehensive characterization of variants underlying heart and blood diseases with CRISPR base editing
['FUNDING_OTHER'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11092153
Using precise CRISPR base editing, the team will change thousands of gene variants in human blood and heart-related cells to find which variants change cell behavior for people with heart and blood conditions.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11092153 on ClinicalTrials.gov |
What this research studies
If you take part, researchers will use CRISPR base editors to 'write' specific genetic variants into donated blood or heart-related cells and then measure how those changes affect chromatin, gene expression, and cell function. They plan to test about 72,000 variants linked to cardiovascular and blood traits, using samples and genetic data from people of diverse ancestries. High-content lab tests and advanced computer analyses will identify which genetic changes actually alter cell behavior. The results aim to point to biological mechanisms that could eventually lead to better diagnostics or new treatments.
Who could benefit from this research
Good fit: Ideal participants are people with heart or blood disorders, as well as healthy volunteers from diverse ancestral backgrounds, willing to donate blood or tissue samples for lab analysis.
Not a fit: People seeking immediate treatment or symptom relief should not expect direct benefit, since this is lab-based research focused on understanding disease mechanisms.
Why it matters
Potential benefit: If successful, this work could reveal which genetic variants actually cause heart and blood problems, guiding future diagnostics and therapies.
How similar studies have performed: Smaller CRISPR editing studies have linked specific variants to cellular changes, but applying base editing at the scale of 72,000 variants in primary human cells is largely new.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PINELLO, LUCA — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: PINELLO, LUCA
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: Blood Diseases