Understanding genetic causes of bone marrow failure to find new treatments
Insights from somatic genomics lead to novel therapeutic targets in inherited bone marrow failure syndromes: Shwachman-Diamond Syndrome as a model
This study is looking into Shwachman-Diamond Syndrome, a condition that affects how your bone marrow works, to better understand the genetic changes that cause it and find new ways to improve treatment for patients like you.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | St. Jude Children's Research Hospital NIH-funded |
| Lab location | 1 site (Memphis, United States) |
| Project ID | NIH-11123459 on NIH RePORTER |
What this research studies
This research investigates inherited bone marrow failure syndromes, particularly focusing on Shwachman-Diamond Syndrome (SDS). It aims to uncover the genetic mechanisms that lead to these conditions and how specific mutations can affect blood cell formation. By studying the SBDS gene and its role in ribosome maturation, the research seeks to identify new therapeutic targets that could improve treatment outcomes for patients. The approach includes analyzing somatic mutations in patients' bone marrow to understand their impact on disease progression and treatment response.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Shwachman-Diamond Syndrome or other inherited bone marrow failure syndromes.
Not a fit: Patients with bone marrow failure syndromes not related to genetic mutations or those who do not have a diagnosis of SDS may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to novel therapies that improve the management and outcomes of patients with inherited bone marrow failure syndromes.
How similar studies have performed: Previous research has shown promise in targeting genetic mutations in similar conditions, suggesting that this approach could yield significant advancements.
Where this research is happening
Memphis, United States
- St. Jude Children's Research Hospital — Memphis, United States (Active)
Researchers
- Principal investigator: Kennedy, Alyssa — St. Jude Children's Research Hospital
- Study coordinator: Kennedy, Alyssa
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.