Investigating a genetic cause of sudden cardiac events in young people
Calcium Release Channel Deficiency Syndrome
This study is looking at a genetic condition called calcium release channel deficiency syndrome (CRCDS) that can cause sudden heart problems in young people, especially in the Amish community, to better understand how certain gene changes affect heart health and help find ways to keep those at risk safe.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project ID | NIH-11097191 on NIH RePORTER |
What this research studies
This research focuses on a genetic condition known as calcium release channel deficiency syndrome (CRCDS), which is linked to sudden unexplained cardiac events in young individuals, particularly in the Amish community. The study aims to understand how specific genetic variations in the RYR2 gene affect heart function and lead to dangerous arrhythmias. By analyzing genetic data and cardiac responses, researchers hope to identify individuals at risk and improve diagnostic methods. The ultimate goal is to enhance patient care and prevention strategies for those with this condition.
Who could benefit from this research
Good fit: Ideal candidates for this research include young individuals, particularly from the Amish community, who may have a family history of unexplained cardiac events or arrhythmias.
Not a fit: Patients without a family history of cardiac issues or those who do not belong to the populations affected by this genetic condition may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better identification and management of individuals at risk for sudden cardiac arrest due to genetic factors.
How similar studies have performed: Previous research has successfully identified genetic causes of cardiac arrhythmias, suggesting that this approach may yield valuable insights into CRCDS.
Where this research is happening
Rochester, United States
- Mayo Clinic Rochester — Rochester, United States (Active)
Researchers
- Principal investigator: Ackerman, Michael John — Mayo Clinic Rochester
- Study coordinator: Ackerman, Michael John
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.