Understanding how genetic variants affect cellular function in a specific genetic disorder.
Official title: Cellular Phenotypes of Genetic Variants in Mucopolysaccharidosis
Funded at Washington University · NIH-11056725 · Data updated 2026-11-12
This study is looking at how certain genetic changes affect cells in people with Hunter syndrome, using new technology to help doctors understand if these changes are harmless or linked to the disease, which could lead to better diagnoses and treatment options for patients.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | April 1, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $450,047 |
| NIH project number | 5R01NS132057-03 |
| Project ID | NIH-11056725 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Hunter syndrome or those with genetic variants of uncertain significance related to this condition.
✕Less likely to help
Patients with well-defined genetic disorders that are already understood and classified will likely not benefit from this research.
What this research studies
This research investigates the impact of genetic variants on cellular function, particularly focusing on Hunter syndrome. By utilizing a novel cell-based platform and machine learning, the study aims to evaluate the morphological characteristics of cells affected by these variants. This approach seeks to provide clearer insights into whether certain genetic changes are benign or disease-causing, which can help guide clinical decisions. Patients will benefit from improved diagnostic accuracy and better management strategies based on the functional assessment of their genetic variants.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and personalized treatment plans for patients with genetic disorders.
How similar studies have gone: Other research has shown promise in using cell-based assays and machine learning to assess genetic variants, indicating that this approach could be effective.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Dickson, Patricia I — Washington University
- Study coordinator: Dickson, Patricia I
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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.