Understanding how a specific protein affects gene activation in development and disease
5-methylcytosine oxidation in development and disease
This study is looking at how a protein called SMCHD1 affects gene activity related to development and diseases like facioscapulohumeral muscular dystrophy (FSHD), using mouse and human stem cells to understand what happens when this protein is missing.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Van Andel Research Institute NIH-funded |
| Lab location | 1 site (Grand Rapids, United States) |
| Project ID | NIH-11061906 on NIH RePORTER |
What this research studies
This research investigates the role of a protein called SMCHD1 in regulating the oxidation of 5-methylcytosine, a process that can activate genes involved in embryonic development and diseases like facioscapulohumeral muscular dystrophy (FSHD). By using mouse embryonic stem cells and human induced pluripotent stem cells, the researchers aim to uncover how the absence of SMCHD1 alters gene activity and contributes to disease. The study will explore the mechanisms behind TET proteins, which are crucial for gene activation, and how they are influenced by SMCHD1. This research could provide insights into the fundamental processes of gene regulation and its implications for various health conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals affected by facioscapulohumeral muscular dystrophy or related genetic conditions.
Not a fit: Patients with conditions unrelated to gene activation or those not affected by FSHD may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for diseases linked to gene activation, such as FSHD.
How similar studies have performed: Previous research has shown promising results in understanding gene regulation through similar mechanisms, indicating potential for success in this area.
Where this research is happening
Grand Rapids, United States
- Van Andel Research Institute — Grand Rapids, United States (Active)
Researchers
- Principal investigator: Pfeifer, Gerd P — Van Andel Research Institute
- Study coordinator: Pfeifer, Gerd P
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.