Understanding Cystinosis at the Molecular and Cellular Level
Molecular and Cellular Mechanisms of the Lysosomal Storage Disease Cystinosis
This research aims to better understand how cystinosis affects cells and tissues, especially in the kidneys and brain, to find new ways to help patients.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Scripps Research Institute, the NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11161465 on NIH RePORTER |
What this research studies
Our cells rely on tiny compartments called lysosomes to clean up waste and keep things running smoothly. In cystinosis, a genetic problem causes a specific transporter to malfunction, leading to a harmful buildup of a substance called cystine inside these lysosomes. This buildup causes cells to work improperly and can lead to their death, particularly affecting the kidneys and brain over time. We are exploring how this cystine accumulation, along with other newly discovered cellular defects, contributes to the progressive damage seen in patients, even with current treatments. By uncovering these detailed cellular problems, we hope to identify new targets for more effective therapies.
Who could benefit from this research
Good fit: This foundational research is relevant to patients, particularly children aged 0-11, who are living with nephropathic cystinosis.
Not a fit: Patients without cystinosis or those whose condition is fully managed by existing treatments may not directly benefit from this specific basic science work.
Why it matters
Potential benefit: If successful, this research could lead to a deeper understanding of cystinosis, paving the way for new treatments that address the disease more comprehensively than current therapies.
How similar studies have performed: This work builds upon recent discoveries, including our own, that have identified new cellular defects beyond cystine accumulation in cystinosis.
Where this research is happening
La Jolla, United States
- Scripps Research Institute, the — La Jolla, United States (Active)
Researchers
- Principal investigator: Catz, Sergio Daniel — Scripps Research Institute, the
- Study coordinator: Catz, Sergio Daniel
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.