Understanding Genetic Heart Conditions
Genetic Studies of Sarcomere-based Cardiac Diseases
This project aims to better understand the genetic causes of a common heart condition called dilated cardiomyopathy and find new ways to treat it.
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-11091425 on NIH RePORTER |
What this research studies
Many people with dilated cardiomyopathy, a serious heart condition, have changes in a gene called TTN. However, it's often hard to tell which of these genetic changes are truly harmful and which are not. This project uses zebrafish, a type of fish, as a model to help us understand why some TTN gene changes cause disease and others don't. Researchers are also looking for specific pathways in the body that go wrong when these genetic changes cause heart problems. The goal is to discover new ways to develop effective treatments for this condition.
Who could benefit from this research
Good fit: Patients with dilated cardiomyopathy, especially those with known TTN gene variants, could potentially benefit from future therapies developed from this research.
Not a fit: Patients whose dilated cardiomyopathy is not linked to TTN gene variants may not directly benefit from the specific findings of this particular genetic research.
Why it matters
Potential benefit: If successful, this work could lead to more accurate diagnoses and new treatment options for individuals with dilated cardiomyopathy caused by TTN gene changes.
How similar studies have performed: This project builds on existing knowledge about TTN gene variants in dilated cardiomyopathy and uses a novel zebrafish model to address the challenge of allelic heterogeneity.
Where this research is happening
Rochester, United States
- Mayo Clinic Rochester — Rochester, United States (Active)
Researchers
- Principal investigator: Xu, Xiaolei — Mayo Clinic Rochester
- Study coordinator: Xu, Xiaolei
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.