Understanding genetic factors behind congenital asplenia
Official title: A Genetic Dissection of the Incomplete Penetrance of RPSA Variants for Isolated Congenital Asplenia
Funded at Weill Medical Coll of Cornell Univ · NIH-11165488 · Data updated 2026-11-12
This study is looking into the genetic reasons why some people are born without a spleen, a condition called isolated congenital asplenia, and it aims to understand how certain changes in a specific gene might affect spleen development, helping us learn why not everyone with these changes ends up with this condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Weill Medical Coll of Cornell Univ NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | May 1, 2025 |
| Project end | April 30, 2029 |
| Funding year | 2025 |
| Award (this year) | $54,538 |
| NIH project number | 1F30HD116571-01A1 |
| Project ID | NIH-11165488 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with isolated congenital asplenia or those with family members affected by this condition.
✕Less likely to help
Patients with congenital asplenia caused by factors unrelated to RPSA genetic variants may not benefit from this research.
What this research studies
This research investigates the genetic causes of isolated congenital asplenia (ICA), a condition where individuals are born without a spleen, making them vulnerable to severe bacterial infections. The team will explore how specific genetic variants in the RPSA gene affect the expression of a protein crucial for spleen development and function. By analyzing the impact of these variants on protein translation, the researchers aim to uncover why some individuals with these genetic changes do not develop ICA. This study employs advanced techniques like ribosome profiling and mRNA analysis to gain insights into the genetic mechanisms at play.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of congenital asplenia, potentially improving patient outcomes and treatment strategies.
How similar studies have gone: Previous research has identified genetic variants associated with congenital asplenia, but this specific approach to understanding incomplete penetrance is novel.
Where this research is happening
-
Weill Medical Coll of Cornell Univ
New York, United States Active
Researchers
- Principal investigator: Mourelatos, Haralambos — Weill Medical Coll of Cornell Univ
- Study coordinator: Mourelatos, Haralambos
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.