How mutations in blood cell genes affect the body's ability to fight infections
MDS-Associated Spliceosome Mutations Regulate Host Defense
['FUNDING_R01'] · NATIONAL JEWISH HEALTH · NIH-11040345
This study is looking at how certain changes in a part of our cells called the spliceosome affect the immune system in people with Myelodysplastic Syndrome (MDS), to help us understand why these patients might get infections more easily.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | NATIONAL JEWISH HEALTH (nih funded) |
| Locations | 1 site (DENVER, UNITED STATES) |
| Trial ID | NIH-11040345 on ClinicalTrials.gov |
What this research studies
This research investigates how specific mutations in the spliceosome, a complex involved in gene expression, impact the immune system in patients with Myelodysplastic Syndrome (MDS). By analyzing blood cells from MDS patients, the study aims to understand how these mutations lead to defects in myeloid cells, which are crucial for fighting infections. The research employs advanced techniques, including ex vivo studies with both mouse and human blood cells, to explore the relationship between these mutations and immune dysfunction. The ultimate goal is to identify why MDS patients with these mutations are more susceptible to infections.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Myelodysplastic Syndrome who have spliceosome mutations.
Not a fit: Patients without Myelodysplastic Syndrome or those whose conditions do not involve spliceosome mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved strategies for preventing and treating infections in MDS patients.
How similar studies have performed: Previous research has shown that understanding genetic mutations can significantly impact treatment approaches, suggesting potential success for this study's novel focus.
Where this research is happening
DENVER, UNITED STATES
- NATIONAL JEWISH HEALTH — DENVER, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ALPER, SCOTT — NATIONAL JEWISH HEALTH
- Study coordinator: ALPER, SCOTT
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.
Conditions: bacteria infection, bacterial disease, Bacterial Infections