Understanding heart muscle problems caused by a specific genetic mutation.
Official title: Mechanisms of cardiomyocyte dysfunction due to the E258K-MYBPC3 mutation modeled in patient-derived cardiomyocytes
Funded at University of Washington · NIH-10897895 · Data updated 2026-11-12
This study is looking at how a specific gene change affects heart muscle function in people with hypertrophic cardiomyopathy (HCM) by using stem cells from patients, which could help find new treatments for the condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | September 30, 2022 |
| Project end | September 29, 2025 |
| Funding year | 2024 |
| Award (this year) | $46,956 |
| NIH project number | 5F31HL164060-03 |
| Project ID | NIH-10897895 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with hypertrophic cardiomyopathy, particularly those with the E258K mutation in the MYBPC3 gene.
✕Less likely to help
Patients without the E258K mutation or those with other forms of heart disease may not benefit from this research.
What this research studies
This research investigates how a specific mutation in the cardiac myosin binding protein-C gene leads to heart muscle dysfunction in patients with hypertrophic cardiomyopathy (HCM). By using patient-derived stem cells, the study aims to explore the underlying mechanisms of this mutation and its effects on heart cells. The researchers will utilize advanced techniques, including CRISPR/Cas9, to create isogenic cell lines for comparison, allowing for a deeper understanding of the disease at a cellular level. This approach could pave the way for developing targeted therapies for HCM.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that specifically target the underlying causes of hypertrophic cardiomyopathy.
How similar studies have gone: Previous research has shown promise in using patient-derived stem cells to study genetic heart diseases, indicating that this approach could yield valuable insights.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Steczina, Sonette — University of Washington
- Study coordinator: Steczina, Sonette
Related research
Other NIH-funded projects on the same topics.
-
Making genetic testing more accessible to the public
This study is all about making it easier for people at risk of certain cancers, like breast, ovarian, and colon cancers, to get genetic testing, so we can find out what helps them access these important services and understand how they can benefit from them.
-
Breast cancer diagnosis in low-resource settings using millifluidics and fast digital imaging in Ghana
A new project will test a fast, low-cost way to diagnose breast cancer at the point of care in Ghana using small-batch fluidics and direct digital imaging.
-
Binaural Hearing and Speech in Noise in Children
This project explores how children hear speech in noisy classrooms using how the two ears work together to see if binaural processing differences explain why some kids struggle more than others.
-
Neural circuits that control pain aversion in the brain
Researchers are exploring how a specific brain area helps people feel and avoid pain, with potential to lead to better pain treatments.
-
United World Antiviral Research Network (UWARN)
A collaborative, international effort is testing new virus surveillance and evolution ideas to help people living with HIV and communities in LMICs stay safer from current and emerging viruses.
-
HF endotypes in heart failure using ethical multi-modal AI and molecular data
A patient-friendly project that uses advanced AI and multiple kinds of health data to identify distinct heart failure subtypes that could guide personalized care.
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.