Understanding the role of CLIC2 in heart and brain conditions
Characterization of CLIC2
This study is looking at how changes in the CLIC2 protein can affect heart health and brain development, especially for people with certain genetic conditions, by using human stem cells to learn more about these effects and find better treatments.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ohio State University NIH-funded |
| Lab location | 1 site (Columbus, UNITED STATES) |
| Project ID | NIH-11139100 on NIH RePORTER |
What this research studies
This research investigates the physiological characteristics of the CLIC2 protein, which is linked to serious health issues such as hypertrophic cardiomyopathy and X-linked intellectual disability. The study aims to understand how mutations in the CLIC2 gene affect heart cell development and function, particularly in patients with specific genetic conditions. By examining how these mutations impact the protein's behavior, researchers hope to uncover new insights that could lead to better treatments for affected individuals. The approach involves using human stem cells to model the effects of CLIC2 mutations on heart cells.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with mutations in the CLIC2 gene, particularly those diagnosed with hypertrophic cardiomyopathy or X-linked intellectual disability.
Not a fit: Patients without CLIC2 mutations or those with unrelated cardiac or neurological 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 and intellectual disabilities linked to CLIC2 mutations.
How similar studies have performed: While CLIC2 has been studied in relation to certain conditions, this specific investigation into its physiological roles and biophysical properties is relatively novel.
Where this research is happening
Columbus, UNITED STATES
- Ohio State University — Columbus, United States (Active)
Researchers
- Principal investigator: Singh, Harpreet — Ohio State University
- Study coordinator: Singh, Harpreet
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.