Predicting how genetic variants affect drug repurposing for rare diseases
Official title: Variant impact prediction on Common Fund data sets towards drug repurposing for rare genetic diseases
Funded at Icahn School of Medicine at Mount Sinai · NIH-10988576 · Data updated 2026-11-12
This study is looking at how certain gene changes might help us find new treatments for rare diseases, so if you or someone you know has one of these conditions, this research could lead to better options for managing it.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 5, 2024 |
| Project end | September 4, 2025 |
| Funding year | 2024 |
| Award (this year) | $338,000 |
| NIH project number | 1R03OD038386-01 |
| Project ID | NIH-10988576 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old who have been diagnosed with rare genetic diseases.
✕Less likely to help
Patients with common genetic diseases or those over the age of 11 may not receive benefits from this research.
What this research studies
This research investigates the impact of genetic variants on rare diseases, focusing on how certain changes in genes can lead to new treatment options through drug repurposing. By analyzing large genomic data sets, the researchers aim to identify gain-of-function variants that may be more common in these diseases than previously thought. The study will utilize advanced computational methods to predict which genetic variants are associated with these conditions, potentially leading to new therapeutic strategies. Patients may benefit from this research as it seeks to expand the understanding of rare genetic diseases and improve treatment options.
Why it matters
Potential benefit: If successful, this research could lead to new drug treatments for rare genetic diseases that currently lack targeted therapies.
How similar studies have gone: Previous research has shown promise in using computational methods to identify genetic variants associated with diseases, indicating that this approach may yield valuable insights.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Pejaver, Vikas Rao — Icahn School of Medicine at Mount Sinai
- Study coordinator: Pejaver, Vikas Rao
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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.