Understanding how genetic changes in nephrin affect kidney diseases
Discovering the Consequences of Genetic Variation in Nephrin on Kidney Diseases and Traits in Biobank Populations
This study is looking at how certain genetic changes in the nephrin gene might affect kidney diseases like nephrotic syndrome, especially in young people, to help doctors better understand and treat these conditions.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10998554 on NIH RePORTER |
What this research studies
This research investigates the role of genetic variations in the nephrin gene and their impact on kidney diseases, particularly nephrotic syndrome, which can lead to end-stage kidney disease in young individuals. By analyzing biobank populations, the study aims to identify how these genetic factors influence disease severity and treatment responses. The goal is to enhance clinical management and develop targeted therapies for patients suffering from nephrotic syndrome. This research builds on previous findings that suggest carriers of certain genetic mutations may have a higher risk of kidney disease.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with nephrotic syndrome, particularly those with steroid-resistant forms of the disease.
Not a fit: Patients with kidney diseases unrelated to genetic variations in nephrin may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more effective treatments and management strategies for patients with nephrotic syndrome and related kidney diseases.
How similar studies have performed: Previous research has shown promising results in understanding genetic factors related to nephrotic syndrome, indicating that this approach has potential for success.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Banerji, Adrian Olaf — Boston Children's Hospital
- Study coordinator: Banerji, Adrian Olaf
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.