Testing gene changes in the cells that make platelets
Evaluation of genetic variants affecting platelet function with CRISPR HDR in human megakaryocytes
['FUNDING_R01'] · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · NIH-11124846
Researchers use precise gene editing in the cells that produce platelets to find which inherited gene changes cause platelet bleeding problems in adults.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH (nih funded) |
| Locations | 1 site (SALT LAKE CITY, UNITED STATES) |
| Trial ID | NIH-11124846 on ClinicalTrials.gov |
What this research studies
If you or a donor provide blood-forming stem cells, researchers will turn those cells into megakaryocytes, the cells that make platelets. They will use a non-viral CRISPR/Cas9 homology-directed repair method to introduce specific genetic changes without selection. The team will create dozens of variants in the platelet gene ITGA2B and measure platelet-like responses from the engineered megakaryocytes. Results will help reclassify uncertain genetic variants and explain how specific mutations lead to bleeding problems.
Who could benefit from this research
Good fit: Ideal candidates are adults (or donors) with a suspected inherited platelet disorder, especially people who have a variant of unknown significance in the ITGA2B gene.
Not a fit: People with bleeding due to non-genetic causes or with variants in unrelated genes are unlikely to benefit from this specific project.
Why it matters
Potential benefit: This work could clarify whether a person’s genetic variant causes a platelet disorder, improving diagnosis and guiding future care decisions.
How similar studies have performed: Preliminary lab data show this CRISPR HDR method can precisely create ITGA2B mutations and reproduce patient-like platelet defects, so the approach has promising early success though it is novel in human megakaryocytes.
Where this research is happening
SALT LAKE CITY, UNITED STATES
- UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH — SALT LAKE CITY, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ROWLEY, JESSE — UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH
- Study coordinator: ROWLEY, JESSE
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 Coagulation Disorders, Blood Platelet Disorders