How changes in the IDS gene affect cells in Hunter syndrome
Cellular Phenotypes of Genetic Variants in Mucopolysaccharidosis
This project uses a cell-based test and machine learning to tell whether specific changes in the IDS gene are likely to cause Hunter syndrome for people with unclear genetic test results.
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 ID | NIH-11325066 on NIH RePORTER |
What this research studies
If you or a family member has an uncertain change in the IDS gene, researchers will grow cells that carry those changes and take detailed, single-cell images to capture how the cells look and behave. They will use a high-throughput RaftSeq pipeline to test many variants in a library and apply machine learning to find patterns of cell morphology that match disease-causing or benign changes. The team will compare this cell-based readout to standard biochemical tests to see which gives clearer information about disease risk. The work is done in the lab at Washington University and aims to turn unclear genetic results into more useful clinical information.
Who could benefit from this research
Good fit: People who carry or have been told they have a variant of uncertain significance (VUS) in the IDS gene, or who have had genetic testing for Hunter syndrome with unclear results.
Not a fit: People without IDS gene variants or those whose diagnosis is already definitive by current tests are unlikely to directly benefit from this project.
Why it matters
Potential benefit: If successful, this could help people with unclear IDS test results by clarifying whether a variant is likely harmful and guiding diagnosis and care.
How similar studies have performed: Related approaches using cell-based assays and machine learning have shown promise for interpreting variants in other genes, but applying this exact morphological pipeline to IDS/Hunter syndrome is relatively new.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Dickson, Patricia I — Washington University
- Study coordinator: Dickson, Patricia I
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.