Using mobile technology to diagnose genetic conditions in low-resource areas
Official title: Mobile Diagnosis of Congenital Genetic Conditions: A Model for Screening and Surveillance in Low-Resource Settings
Funded at University of California-Irvine · NIH-11012899 · Data updated 2026-11-12
This study is working on creating easy-to-use mobile health tools that help doctors in places like the Democratic Republic of the Congo quickly identify genetic conditions, starting with Down syndrome, so they can provide better care for children who need it.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project start | February 1, 2024 |
| Project end | January 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $300,417 |
| NIH project number | 5R33HD102988-03 |
| Project ID | NIH-11012899 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants and young children under 11 years old, particularly those in low-resource settings who may be at risk for congenital genetic conditions.
✕Less likely to help
Patients with congenital conditions who are already diagnosed or those living in high-resource settings may not benefit from this research.
What this research studies
This research aims to develop and implement mobile health tools to accurately diagnose congenital genetic conditions, particularly in low-resource settings like the Democratic Republic of the Congo. By utilizing AI-guided smartphone technology, the project will screen for syndromic conditions, starting with Down syndrome and expanding to other genetic disorders. The approach includes training local healthcare workers to use these tools effectively, thereby enhancing diagnostic capabilities and improving health outcomes for affected children. The project also seeks to establish a registry to monitor health outcomes and inform public health strategies.
Why it matters
Potential benefit: If successful, this research could significantly improve early diagnosis and management of congenital genetic conditions in underserved populations, potentially reducing morbidity and mortality.
How similar studies have gone: Other research has shown promise in using mobile technology for health diagnostics, indicating that this approach could be effective in similar contexts.
Where this research is happening
-
University of California-Irvine
Irvine, United States Active
Researchers
- Principal investigator: Vilain, Eric J. — University of California-Irvine
- Study coordinator: Vilain, Eric J.
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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.