Understanding a genetic cause of severe congenital neutropenia
Pathobiology of VPS45 severe congenital neutropenia
This study is looking at how changes in a protein called VPS45 can cause severe congenital neutropenia, a condition that makes it hard for your body to fight infections, and it's for anyone interested in understanding more about this disease and finding new ways to help.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project ID | NIH-10767281 on NIH RePORTER |
What this research studies
This research investigates how mutations in the VPS45 protein lead to severe congenital neutropenia, a condition where the body does not produce enough neutrophils, which are crucial for fighting infections. The researchers are using both laboratory and animal models to study the biochemical processes affected by these mutations, focusing on how they disrupt the normal functioning of neutrophils and platelets. By analyzing these processes, the team aims to uncover the underlying mechanisms of the disease and potentially identify new therapeutic targets.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with severe congenital neutropenia, particularly those with VPS45 mutations.
Not a fit: Patients with neutropenia caused by factors unrelated to VPS45 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for patients with severe congenital neutropenia, enhancing their ability to fight infections.
How similar studies have performed: Previous research has shown promising results in understanding similar genetic causes of congenital disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Newburger, Peter E — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Newburger, Peter E
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.