Whole genome sequencing to uncover molecular causes in nephrotic syndrome
Official title: Whole Genome Sequencing for Nephrotic Syndrome Discovery
Funded at Boston Children's Hospital · NIH-11447299 · Data updated 2026-11-12
A study to map the genetic and molecular factors behind nephrotic syndrome and related kidney diseases to help diagnose and guide future treatments for patients.
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 start | September 18, 2019 |
| Project end | May 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $892,646 |
| NIH project number | 2R01DK119380-07A1 |
| Project ID | NIH-11447299 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with nephrotic syndrome or related proteinuric kidney diseases, including both pediatric and adult patients, whose kidney tissue and genomic data are available for study.
✕Less likely to help
Patients without access to genomic or kidney tissue data or those not meeting study criteria may not benefit directly.
What this research studies
This project uses whole genome sequencing and kidney tissue RNA data from people with proteinuric kidney diseases to build a detailed map of how these conditions arise at the molecular level. Researchers integrate genetic information with other patient data to identify the specific pathways that drive disease, aiming to point toward more precise and effective therapies. The work builds on prior findings about immune and kidney dysfunction in these conditions and looks for genetic signals that explain differences between patients. If successful, the results could lead to better diagnostics and targeted treatments for individuals with NS.
Why it matters
Potential benefit: New molecular insights may enable earlier and more accurate diagnosis and guide development of targeted therapies for nephrotic syndrome.
How similar studies have gone: Previous work has shown that integrating genomic and transcriptomic data can reveal disease mechanisms, supporting the potential of this approach.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Sampson, Matthew Gordon — Boston Children's Hospital
- Study coordinator: Sampson, Matthew Gordon
Related research
Other NIH-funded projects on the same topics.
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Sodium-related edema in nephrotic syndrome and ANGPTL4
A physician-scientist group is studying how a protein called ANGPTL4 may drive skin edema in nephrotic syndrome, with experiments in rodents and tests on human ANGPTL4 fragments.
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Immune-driven tubulointerstitial injury in pediatric nephrotic syndrome
A physician-scientist aims to understand how immune processes cause kidney tissue damage in children with difficult-to-treat nephrotic syndrome.
-
Hodgkin lymphoma–linked nephrotic syndrome and kidney injury
This project looks at how Hodgkin lymphoma may cause nephrotic syndrome by changing a kidney gene and exposing kidney cells to lymphoma-related substances.
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Targeting calcineurin regulators for better diagnostics and treatments for nephrotic syndrome
This work looks at whether proteins that control calcineurin can be used to make better tests and more precise treatments for people with nephrotic syndrome.
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Investigating the role of a specific protein in childhood kidney disease
This study is looking at how a protein called CD93 might affect kidney health in children with Idiopathic Nephrotic Syndrome, and by examining blood and urine samples, researchers hope to find clues that could help doctors better understand and treat this condition.
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Improving how we measure symptoms for nephrotic syndrome
This project aims to create better ways to measure how patients with nephrotic syndrome experience symptoms like fluid overload, making it easier to understand how new treatments are working.
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.