Predicting how genetic variants affect drug repurposing for rare diseases
Variant impact prediction on Common Fund data sets towards drug repurposing for rare genetic diseases
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 ID | NIH-10988576 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old who have been diagnosed with rare genetic diseases.
Not a fit: Patients with common genetic diseases or those over the age of 11 may not receive benefits from this research.
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 performed: 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
New York, United States
- 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
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.