Genetic clues to why some people with RPSA variants develop congenital asplenia while others don’t
Official title: Genetic basis of incomplete penetrance of RPSA haploinsufficiency for congenital asplenia
Funded at Ut Southwestern Medical Center · NIH-11577357 · Data updated 2026-11-12
A small study will look at why certain people with RPSA gene changes develop congenital asplenia while others with the same changes do not.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | September 1, 2026 |
| Project end | June 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $302,975 |
| NIH project number | 7R21AI186048-02 |
| Project ID | NIH-11577357 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with congenital asplenia or a family history suggesting RPSA-related ICA may be eligible for related genetic studies or future follow-up.
✕Less likely to help
This study is primarily discovery and may not directly benefit every participant.
What this research studies
This project focuses on a rare condition called isolated congenital asplenia, where people are born without a spleen and are at higher risk for serious infections. Researchers will explore how the normal RPSA gene is turned on in cells and why some variants lead to disease only part of the time. They will analyze existing data to find factors that influence how much the healthy copy of RPSA is expressed, and test ideas about other genes that might contribute to the condition. The work involves genetic analyses and interpretation of how protein production affects spleen development, aiming to reveal why penetrance is incomplete.
Why it matters
Potential benefit: Understanding why ICA occurs in some people with RPSA changes could lead to better risk assessment and future therapies to prevent or manage infections.
How similar studies have gone: Previous work has linked RPSA to ICA in about half of studied families, with incomplete penetrance remaining unexplained, making this approach timely and potentially impactful.
Where this research is happening
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Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Boisson, Bertrand — Ut Southwestern Medical Center
- Study coordinator: Boisson, Bertrand
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.