Understanding the Septin6 Gene in Blood Cell Development
The role of Septin6 Group in Murine and Human Hematopoiesis
This research explores how changes in a gene called Septin6 affect the making of blood cells, especially in newborns with a severe blood condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11098537 on NIH RePORTER |
What this research studies
We are learning about a specific gene, Septin6, which helps cells function properly. Recently, we found that a new change in this gene can cause severe neutropenia, a condition where newborns have very few infection-fighting white blood cells. Our work involves studying how this gene change impacts the development of blood cells, using both laboratory models and cells from patients. By understanding how Septin6 works and what happens when it's altered, we hope to uncover the root cause of this serious blood disorder. This knowledge could lead to better ways to diagnose and treat affected babies.
Who could benefit from this research
Good fit: This research is most relevant to newborns diagnosed with severe neutropenia, especially those with identified mutations in the Septin6 gene.
Not a fit: Patients with blood disorders not linked to the Septin6 gene or severe neutropenia are unlikely to directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to new diagnostic tools and targeted treatments for newborns suffering from severe neutropenia caused by Septin6 gene changes.
How similar studies have performed: This approach is based on recent discoveries of novel Septin6 mutations in patients, with preliminary lab data supporting the link to blood cell problems.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Williams, David a — Boston Children's Hospital
- Study coordinator: Williams, David a
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.