Investigating how changes in polyamine metabolism can help treat genetic disorders.
Official title: Leveraging modulation of polyamine metabolism for therapeutic advantage in genetic disorders
Funded at Michigan State University · NIH-11031306 · Data updated 2026-11-12
This study is looking at how changes in certain genes can cause conditions like Bachmann-Bupp Syndrome and Snyder-Robinson Syndrome, and it aims to find out if treatments can help balance important substances in the body to improve symptoms for those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Michigan State University NIH-funded |
| Lab location | 1 site (East Lansing, United States) |
| Project start | February 1, 2023 |
| Project end | January 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $671,409 |
| NIH project number | 5R01HD110500-03 |
| Project ID | NIH-11031306 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Bachmann-Bupp Syndrome or Snyder-Robinson Syndrome, particularly those with identified mutations in the relevant genes.
✕Less likely to help
Patients with neurodevelopmental disorders not linked to polyamine metabolism may not benefit from this research.
What this research studies
This research focuses on understanding how mutations in genes related to polyamine metabolism can lead to neurodevelopmental disorders, specifically Bachmann-Bupp Syndrome and Snyder-Robinson Syndrome. The researchers aim to explore the biochemical pathways affected by these mutations and how they can be targeted for therapeutic intervention. By using a combination of in vitro studies, animal models, and clinical data, they will investigate whether pharmacological treatments can normalize polyamine levels and alleviate symptoms in affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly improve the quality of life for patients with specific genetic disorders.
How similar studies have gone: Previous research has shown promising results in targeting polyamine metabolism for therapeutic benefits in related conditions, suggesting potential for success in this approach.
Where this research is happening
-
Michigan State University
East Lansing, United States Active
Researchers
- Principal investigator: Bachmann, Andre S — Michigan State University
- Study coordinator: Bachmann, Andre S
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.