Personalized disease risk for people with rare genetic variants
Predicting individual disease risk for individuals harboring monogenic risk alleles with deep learning
This project uses advanced computer learning on health and genetic data to estimate which people with rare gene changes are likely to develop disease.
Quick facts
| Grant type | R01 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-11314475 on NIH RePORTER |
What this research studies
Researchers will combine genetic test results with health records and other health data to teach deep-learning models how context and non-genetic factors change risk for people with rare variants. The team will use large datasets (including national resources) to find patterns that predict when a genetic risk allele actually leads to disease. The methods will transform those patterns into biologically meaningful signatures that may explain why some people get sick and others do not. Findings will be used to improve how genetic results are interpreted and to guide future clinical tests and counseling.
Who could benefit from this research
Good fit: Ideal candidates are people who have had genetic testing and carry a rare disease-linked variant and who can share their medical records or other health data for research.
Not a fit: People without identified monogenic risk variants or those unable to share health or genetic data are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could make genetic test results more useful by giving people clearer, personalized risk estimates and guidance.
How similar studies have performed: Related deep-learning work has shown promise for filling missing health data and improving risk predictions, but applying these methods specifically to rare monogenic variants is relatively new.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Jordan, Daniel Michael — Icahn School of Medicine at Mount Sinai
- Study coordinator: Jordan, Daniel Michael
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.