Understanding a rare genetic disorder related to 2-Hydroxyglutaric aciduria
A novel murine model of 2-Hydroxyglutaric aciduria
This study is looking into a rare genetic disorder linked to the SLC25A1 gene, using a special mouse model to understand how the condition affects development and to find new ways to help those who have it.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Georgetown University NIH-funded |
| Lab location | 1 site (Washington, United States) |
| Project ID | NIH-10976832 on NIH RePORTER |
What this research studies
This research investigates a rare genetic disorder caused by mutations in the SLC25A1 gene, leading to the accumulation of neurotoxic substances in the body. By developing a novel mouse model that mimics the human condition, researchers aim to explore the underlying mechanisms of the disease and its effects on development. The study employs advanced techniques such as biochemical analysis, metabolomics, and transcriptomic profiling to gain insights into the disorder. This could help identify potential therapeutic strategies to improve patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with combined D/L-2-Hydroxyglutaric Aciduria or related genetic disorders.
Not a fit: Patients with unrelated genetic disorders or those not affected by 2-Hydroxyglutaric aciduria may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for patients with 2-Hydroxyglutaric aciduria.
How similar studies have performed: While research on 2-Hydroxyglutaric aciduria is limited, the development of murine models for genetic disorders has shown promise in understanding similar conditions.
Where this research is happening
Washington, United States
- Georgetown University — Washington, United States (Active)
Researchers
- Principal investigator: Avantaggiati, Maria L — Georgetown University
- Study coordinator: Avantaggiati, Maria L
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.