Investigating a lysosomal transporter linked to blood disorders
SLC29A3 lysosomal transporter in hematopoietic homeostasis and disease
['FUNDING_R01'] · OHIO STATE UNIVERSITY · NIH-11031344
This study is looking at a gene called SLC29A3 that helps keep blood cells healthy, and it's for people with genetic disorders that cause symptoms like anemia and enlarged organs; researchers want to understand how changes in this gene affect health and find new ways to help manage these conditions.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | OHIO STATE UNIVERSITY (nih funded) |
| Locations | 1 site (Columbus, UNITED STATES) |
| Trial ID | NIH-11031344 on ClinicalTrials.gov |
What this research studies
This research focuses on the SLC29A3 gene, which is responsible for a lysosomal transporter that plays a crucial role in maintaining blood cell health. The study aims to understand how mutations in this gene lead to various genetic disorders characterized by symptoms like anemia and enlarged organs. By using animal models, the researchers will explore the underlying mechanisms of these disorders and test potential treatments that could alleviate the symptoms. Patients may benefit from insights gained about new therapeutic approaches targeting these genetic conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with genetic disorders linked to SLC29A3 mutations, such as H syndrome or RDD syndrome.
Not a fit: Patients without SLC29A3-related genetic disorders or those with unrelated blood conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for genetic blood disorders caused by SLC29A3 mutations.
How similar studies have performed: Previous research has shown promise in targeting lysosomal transport mechanisms for treating genetic disorders, suggesting potential success for this approach.
Where this research is happening
Columbus, UNITED STATES
- OHIO STATE UNIVERSITY — Columbus, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: GOVINDARAJAN, RAJGOPAL — OHIO STATE UNIVERSITY
- Study coordinator: GOVINDARAJAN, RAJGOPAL
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.