Understanding how specific gene mutations cause kidney disease in children.
Delineation of pathogenic mechanisms of NOS1AP and TRIM8 mutations in monogenic SRNS/FSGS.
This study is looking into the genetic reasons why some kids with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis don’t respond to treatment, focusing on specific gene mutations, to help find better ways to support their kidney health.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11058473 on NIH RePORTER |
What this research studies
This research investigates the genetic causes of steroid-resistant nephrotic syndrome (SRNS) and focal segmental glomerulosclerosis (FSGS) in children, focusing on mutations in the NOS1AP and TRIM8 genes. By utilizing advanced cell biology techniques, proteomics, and mouse models, the study aims to uncover how these mutations disrupt kidney function at a cellular level. The findings could lead to better understanding and potential new treatments for affected children.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old diagnosed with steroid-resistant nephrotic syndrome or focal segmental glomerulosclerosis.
Not a fit: Patients with kidney diseases not related to genetic mutations or those over the age of 11 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatment options for children suffering from severe kidney diseases caused by genetic mutations.
How similar studies have performed: Previous research has shown success in identifying genetic causes of kidney diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Majmundar, Amar J — Boston Children's Hospital
- Study coordinator: Majmundar, Amar J
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.