How SBDS and EIF6 cause problems in Shwachman‑Diamond syndrome
Genetic Dissection of Stress Responses in Shwachman-Diamond Syndrome
Researchers are figuring out how loss of the SBDS protein and buildup of EIF6 lead to cell damage, growth problems, and tissue loss in people with Shwachman‑Diamond syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cleveland Clinic Lerner Com-Cwru NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project ID | NIH-11126066 on NIH RePORTER |
What this research studies
If you take part, researchers will combine experiments in zebrafish models, laboratory cell lines, and samples from patients to trace the chain of events that follows loss of SBDS. They will study how EIF6 accumulation changes cell metabolism and triggers growth arrest, cell death, and tissue atrophy. The team will also examine how TP53 changes over time and whether initially helpful responses later become harmful. Work uses genetic knockouts in fish, biochemical measurements, and analysis of patient‑derived tissues to link molecular changes to symptoms.
Who could benefit from this research
Good fit: Adults with a diagnosis of Shwachman‑Diamond syndrome or known SBDS mutations, and those willing to provide clinical information or tissue/blood samples, would be ideal candidates.
Not a fit: People without SDS, children under 21, or patients not willing to provide samples or travel for evaluations are unlikely to benefit directly from this project.
Why it matters
Potential benefit: This work could point to new molecular targets to prevent cell loss and improve organ function in people with Shwachman‑Diamond syndrome.
How similar studies have performed: Prior basic and model‑system studies have linked SBDS, EIF6, and TP53 to ribosome defects and symptoms of SDS, but combining zebrafish knockouts with patient tissues to trace metabolic stress responses is a relatively new and targeted approach.
Where this research is happening
Cleveland, United States
- Cleveland Clinic Lerner Com-Cwru — Cleveland, United States (Active)
Researchers
- Principal investigator: Corey, Seth Joel — Cleveland Clinic Lerner Com-Cwru
- Study coordinator: Corey, Seth Joel
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.