Phone-based screening for genetic birth conditions in babies and young children
Mobile Diagnosis of Congenital Genetic Conditions: A Model for Screening and Surveillance in Low-Resource Settings
This project uses smartphone AI plus low-cost genetic tests to spot genetic birth conditions in newborns and young children in low-resource settings.
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 ID | NIH-11257670 on NIH RePORTER |
What this research studies
If your child takes part, clinicians will use a smartphone tool that analyzes physical signs to flag possible genetic syndromes. Children flagged by the tool may then receive a quick, low-cost genetic test that can be run locally in clinics in the Democratic Republic of the Congo. The team plans to expand the approach beyond Down syndrome to detect other chromosomal changes and genetic variants. They will also create a registry to follow children’s health outcomes over time so care and public health planning can improve.
Who could benefit from this research
Good fit: Ideal candidates are newborns and children up to about 11 years old in participating low-resource clinics (for example, sites in the Democratic Republic of the Congo) who have features of a congenital anomaly or whose caregivers consent to screening.
Not a fit: Children without congenital or suspected genetic conditions, adults, or people outside the trial locations likely would not benefit from this project.
Why it matters
Potential benefit: Faster, cheaper diagnoses could allow children to get earlier medical care, monitoring, and support services.
How similar studies have performed: AI facial-analysis tools for genetic syndromes have shown promise in research settings, but combining smartphone screening with on-site low-cost genetic testing and a follow-up registry is a newer, less-tested approach.
Where this research is happening
Irvine, United States
- University of California-Irvine — Irvine, United States (Active)
Researchers
- Principal investigator: Vilain, Eric J. — University of California-Irvine
- Study coordinator: Vilain, Eric J.
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.