APOL1-related kidney disease in Black and African American people
APOL1 - associated nephropathy from human-derived, intrarenal perspective
Researchers are using human kidney tissue and genomic tools to understand how APOL1 gene variants cause severe kidney damage in Black Americans with nephrotic syndrome.
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-11049314 on NIH RePORTER |
What this research studies
If you or a family member has nephrotic syndrome or focal segmental glomerulosclerosis and are of African ancestry, this project looks at cells taken from human kidneys to see how APOL1 risk variants change gene activity and cell function. The team applies advanced genomic methods, including ATAC-seq, to intrarenal (within-kidney) samples to map which genes are turned on or off in affected tissue. By linking genetic risk with the actual molecular changes inside human kidneys rather than relying only on animal models, researchers hope to pinpoint the steps that lead to scarring and protein loss. Those findings could guide future tests and treatments tailored to APOL1-driven disease.
Who could benefit from this research
Good fit: Ideal candidates are Black or African American people with nephrotic syndrome or focal segmental glomerulosclerosis, especially those known or likely to carry two APOL1 risk variants.
Not a fit: People whose kidney disease is caused by other genes or non-APOL1 conditions and those without APOL1 risk variants may not directly benefit from this work.
Why it matters
Potential benefit: If successful, this work could lead to better tests to predict APOL1-related risk and to therapies that target the specific kidney changes caused by APOL1 variants.
How similar studies have performed: Prior genetic studies have firmly linked APOL1 to FSGS, but using human intrarenal genomic profiling to trace mechanisms is relatively new and not yet translated into widespread treatments.
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.