Finding genetic causes of childhood developmental disabilities in Africa
Official title: Advancing discovery for developmental disorders - expanded analysis of the DDD-Africa resource
Funded at Wits Health Consortium (Pty), LTD · NIH-11176994 · Data updated 2026-11-12
Using DNA data, methylation patterns, and AI tools to uncover genetic causes of developmental disabilities in African children.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Wits Health Consortium (Pty), LTD NIH-funded |
| Lab location | 1 site (Parktown, South Africa) |
| Project start | September 1, 2023 |
| Project end | August 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $214,499 |
| NIH project number | 5U01HD114537-03 |
| Project ID | NIH-11176994 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children from Africa with developmental disorders or intellectual disability who have not yet received a genetic diagnosis and whose families can provide clinical information and DNA samples are the best candidates.
✕Less likely to help
People whose conditions are caused by non-genetic factors, who cannot provide DNA or clinical records, or whose genetic cause lies outside what exome or methylation testing can detect may not benefit.
What this research studies
Researchers will use clinical records, DNA samples, and genetic data already collected by the DDD-Africa project to look for hidden genetic changes. They will run multiple computer tools on exome data to find structural DNA variants and search genome-wide methylation patterns that can point to specific diagnoses. A phenotype-aware AI program will match medical features with genetic findings to improve how well a genetic change explains a child's condition. The team aims to increase the number of African children who receive a genetic diagnosis and to make the data more useful for future discoveries.
Why it matters
Potential benefit: If successful, this work could give more African families clear genetic diagnoses that guide medical care, surveillance, and family planning.
How similar studies have gone: Related efforts like the UK Deciphering Developmental Disorders program have improved diagnostic rates using exome sequencing, CNV calling, methylation signatures, and phenotype-matching tools, but these methods have been less widely applied in African populations.
Where this research is happening
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Wits Health Consortium (Pty), LTD
Parktown, South Africa Active
Researchers
- Principal investigator: Lombard, Zane — Wits Health Consortium (Pty), LTD
- Study coordinator: Lombard, Zane
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.