Understanding how Lamin B1 affects a rare neurological disease
Official title: Elucidating Regulatory Mechanisms of Lamin B1 Expression in Autosomal Dominant Leukodystrophy
Funded at University of Pittsburgh at Pittsburgh · NIH-11005021 · Data updated 2026-11-12
This study is looking into Autosomal Dominant Leukodystrophy (ADLD), a serious brain condition, to understand how changes in a gene called Lamin B1 affect the disease, with the hope of finding new ways to help manage or treat it for those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project start | January 1, 2023 |
| Project end | December 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $418,896 |
| NIH project number | 5R01NS126193-03 |
| Project ID | NIH-11005021 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Autosomal Dominant Leukodystrophy, particularly those with known mutations in the Lamin B1 gene.
✕Less likely to help
Patients without a diagnosis of Autosomal Dominant Leukodystrophy or those with different neurological conditions may not benefit from this research.
What this research studies
This research investigates Autosomal Dominant Leukodystrophy (ADLD), a severe neurological condition that leads to the loss of myelin in the central nervous system. The study focuses on the Lamin B1 gene, which is linked to this disease due to specific genetic mutations. By analyzing patient data and using advanced cell models, researchers aim to uncover the regulatory mechanisms that control Lamin B1 expression and how these contribute to the disease. The goal is to identify potential therapeutic targets that could help manage or treat ADLD.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that slow down or prevent the progression of ADLD.
How similar studies have gone: While the specific approach of this research is novel, similar studies have successfully identified genetic mechanisms in other neurological disorders.
Where this research is happening
-
University of Pittsburgh at Pittsburgh
Pittsburgh, United States Active
Researchers
- Principal investigator: Padiath, Quasar S — University of Pittsburgh at Pittsburgh
- Study coordinator: Padiath, Quasar S
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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.