Machine learning to understand how noncoding DNA variants affect heart development
Official title: Machine learning discovery of variants that alter gene regulation in cardiovascular development and disease
Funded at J. David Gladstone Institutes · NIH-11424782 · Data updated 2026-11-12
A new AI-based tool is being developed to predict how noncoding genetic changes influence heart development and contribute to congenital heart disease in children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | J. David Gladstone Institutes NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project start | August 1, 2026 |
| Project end | April 30, 2030 |
| Funding year | 2026 |
| Award (this year) | $925,796 |
| NIH project number | 1R01HL187295-01 |
| Project ID | NIH-11424782 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children with congenital heart disease whose genomes contain noncoding variants will be most directly affected.
✕Less likely to help
Siblings or healthy individuals without CHD are unlikely to benefit from this specific study.
What this research studies
This project aims to build deep learning models that predict how noncoding DNA changes impact heart development by altering chromatin structure and gene regulation. Researchers will apply these models to real genetic variants found in children with congenital heart disease to understand which changes might cause disease. The work combines patient-derived data with advanced machine learning to connect noncoding variants to their biological effects in heart cells. If successful, the toolkit could help identify disease-causing variants beyond protein-coding regions and guide future experiments or therapies.
Why it matters
Potential benefit: It could help identify genetic explanations for CHD in more children and guide personalized follow-up or treatment options.
How similar studies have gone: Previous work shows that machine learning can predict regulatory effects, but applying it specifically to CHD-associated noncoding variants is still emerging.
Where this research is happening
-
J. David Gladstone Institutes
San Francisco, United States Active
Researchers
- Principal investigator: Pollard, Katherine S. — J. David Gladstone Institutes
- Study coordinator: Pollard, Katherine S.
Related research
Other NIH-funded projects on the same topics.
-
HOPE: a new approach to silencing HIV and preventing rebound
A large NIH grant is testing a combination strategy to turn off HIV genes in people on treatment so the virus stays gone and health improves.
-
Undo HIV: Understanding and targeting the active HIV reservoir
Aims to map and ultimately eliminate the HIV cells that stay active despite therapy to improve long-term control of HIV in people living with HIV.
-
TREM2 and TYROBP in Alzheimer's brain network changes
This grant looks at how microglial proteins TREM2 and TYROBP influence brain network excitability in people with Alzheimer's disease and related dementias.
-
Commensal respiratory viruses and how they interact with the human airway
A small NIH grant is exploring how the normal viruses living in our airways interact with our cells to stay harmless and support healthy breathing.
-
Targeted delivery systems to edit blood stem cells
Aims to safely deliver genome-editing tools to blood stem cells to treat diseases like acute myeloid leukemia.
-
Regionally Specific Transplants to Restore Breathing After Cervical Spine Injury
A patient-focused look at a study that aims to repair breathing circuits after cervical spinal cord injury using stem-cell–derived nerve cells and targeted neuromodulation.
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.