Understanding how specific genetic mutations affect heart cell function
Functional implications of CPVT1-associated RyR2 mutations in human cardiomyocytes
['FUNDING_R01'] · UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA · NIH-10897254
This study is looking at how certain genetic changes in heart cells affect their function in people with a heart condition called CPVT1, using a special technique to better understand how calcium signaling works, which could help improve treatments for this condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA (nih funded) |
| Locations | 1 site (COLUMBIA, UNITED STATES) |
| Trial ID | NIH-10897254 on ClinicalTrials.gov |
What this research studies
This research investigates the impact of genetic mutations in the ryanodine receptor (RyR2) on heart cell function, particularly in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT1). Using advanced CRISPR technology, researchers will introduce these mutations into human heart cells derived from induced pluripotent stem cells. The study aims to uncover the molecular mechanisms that regulate calcium signaling in these cells, which is crucial for proper heart function. By comparing the effects of these mutations, the research seeks to provide insights that could lead to better treatments for heart conditions associated with these genetic changes.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with CPVT1 or related cardiac arrhythmias, particularly those under 21 years old.
Not a fit: Patients without RyR2 mutations or those with unrelated heart conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with heart conditions caused by RyR2 mutations.
How similar studies have performed: Previous research has shown promise in using CRISPR technology to study genetic mutations in heart cells, suggesting that this approach could yield valuable insights.
Where this research is happening
COLUMBIA, UNITED STATES
- UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA — COLUMBIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MORAD, MARTIN — UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA
- Study coordinator: MORAD, MARTIN
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.