Developing a new mouse model to study diseases linked to GBA1 mutations
A new mouse model to study GBA1 mutation-associated diseases with multiple organs involvement
This study is creating a new mouse model to help understand diseases linked to the GBA1 gene, which can affect the brain and liver, so researchers can find better treatments for people with conditions like Gaucher disease and those at risk for Parkinson's disease.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project ID | NIH-10651885 on NIH RePORTER |
What this research studies
This research focuses on creating a new mouse model to investigate diseases caused by mutations in the GBA1 gene, which affects multiple organs including the brain and liver. The GBA1 gene is crucial for producing an enzyme that breaks down certain fats, and mutations can lead to conditions like Gaucher disease and increase the risk of Parkinson's disease. By studying these models, researchers aim to better understand the disease processes and test potential therapies that could address both visceral and central nervous system symptoms. This approach is essential for developing effective treatments for patients suffering from these complex conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with GBA1 mutations or those diagnosed with Gaucher disease, especially those experiencing neurological symptoms.
Not a fit: Patients without GBA1 mutations or those with unrelated conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved therapies for patients with Gaucher disease and related conditions, particularly those affecting the brain.
How similar studies have performed: Other research has shown success in using animal models to study genetic diseases, making this approach promising for understanding GBA1 mutation-associated diseases.
Where this research is happening
Cincinnati, United States
- Cincinnati Childrens Hosp Med Ctr — Cincinnati, United States (Active)
Researchers
- Principal investigator: Sun, Ying — Cincinnati Childrens Hosp Med Ctr
- Study coordinator: Sun, Ying
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.