Finding genetic causes of childhood developmental disorders in Africa
Official title: Advancing discovery for developmental disorders - expanded analysis of the DDD-Africa resource
Funded at Wits Health Consortium (Pty), LTD · NIH-11394170 · Data updated 2026-11-12
Researchers will use clinical information, DNA data, and computer-based tools to find genetic changes that help diagnose African children with developmental delays and intellectual disability.
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) | $32,200 |
| NIH project number | 3U01HD114537-03S1 |
| Project ID | NIH-11394170 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children in African settings with unexplained developmental delays or intellectual disability and families willing to share clinical information and DNA samples are the ideal participants.
✕Less likely to help
People without developmental disorders or those whose condition already has a confirmed non-genetic cause are unlikely to benefit directly from this project.
What this research studies
If your child has unexplained developmental delays or intellectual disability, this project uses existing clinical records and DNA samples collected through DDD-Africa to look for genetic causes. Scientists will combine several DNA analysis methods to find structural gene changes, look for genome-wide DNA methylation patterns, and apply AI that links medical features with genetic findings. The team aims to increase the number of children who receive a clear genetic diagnosis and to make those diagnoses more accurate for African patients. Results could help families get better genetic counseling and guide medical care.
Why it matters
Potential benefit: If successful, the work could increase the number of African children who receive a genetic diagnosis and improve guidance for care and family planning.
How similar studies have gone: Related DDD projects in Europe and elsewhere have raised diagnostic rates using genetic and computational methods, but applying combined CNV, methylation, and AI approaches to African data is relatively new.
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.