Investigating genetic causes of nephrotic syndrome
Whole Genome Sequencing for Nephrotic Syndrome Discovery
This study is looking at the genes that might cause primary nephrotic syndrome, a kidney condition that makes you lose a lot of protein in your urine, to help find better ways to understand and treat it for patients like you.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10696083 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic factors that contribute to primary nephrotic syndrome, a rare kidney disorder that leads to significant protein loss in urine. By utilizing whole genome sequencing and RNA sequencing, the study aims to identify genetic variants associated with the disease and their clinical implications. Patients with nephrotic syndrome will be analyzed to uncover molecular mechanisms that could lead to better classification and treatment options. The goal is to enhance patient care through a deeper understanding of the disease's underlying biology.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with primary nephrotic syndrome.
Not a fit: Patients with nephrotic syndrome caused by secondary factors or those without a genetic component may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more precise diagnoses and targeted treatments for patients with nephrotic syndrome.
How similar studies have performed: Previous research has shown promise in using genetic studies to improve understanding and treatment of nephrotic syndrome, indicating that this approach is both relevant and potentially impactful.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Sampson, Matthew Gordon — Boston Children's Hospital
- Study coordinator: Sampson, Matthew Gordon
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.