AI-powered mapping of shelterin mutations to cancer risk
Official title: Integrating AI and Deep Mutational Scanning to Predict the Cancer-Promoting Effect of Shelterin Mutations
Funded at University of California Berkeley · NIH-11450161 · Data updated 2026-11-12
A research project will use artificial intelligence and deep mutational scanning to predict how shelterin mutations affect cancer risk and telomere biology in human cells.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Berkeley NIH-funded |
| Lab location | 1 site (Berkeley, United States) |
| Project start | September 18, 2026 |
| Project end | August 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $2,197,943 |
| NIH project number | 1R01CA307971-01A1 |
| Project ID | NIH-11450161 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with suspected shelterin-related disorders or cancer predisposition who have variants in POT1, TPP1, TIN2, or related shelterin components.
✕Less likely to help
individuals without shelterin-related variants or those not undergoing genetic testing for telomere biology.
What this research studies
Researchers will combine deep mutational scanning with AI models to classify thousands of shelterin gene variants (like POT1, TIN2, TPP1) to understand which mutations promote cancer or cause tissue failure. They will leverage a novel loHAPs-based human cell platform and advanced language models to predict functional effects of variants. The goal is to create robust, interpretable models that can help clinicians interpret patient variants and guide personalized interventions.
Why it matters
Potential benefit: If successful, the work could improve how doctors interpret genetic variants in telomere biology and guide precision decisions for patients with related disorders.
How similar studies have gone: Prior studies show that combining deep mutational scanning with AI can illuminate variant effects, though this is a novel application to shelterin genes.
Where this research is happening
-
University of California Berkeley
Berkeley, United States Active
Researchers
- Principal investigator: Hockemeyer, Dirk — University of California Berkeley
- Study coordinator: Hockemeyer, Dirk
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.