Exploring genetic causes of 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-10915648 · Data updated 2026-11-12
This study is looking at the genetic causes of developmental disorders in African communities to help doctors better understand and diagnose these conditions, using advanced technology and data to find answers that have been missed before.
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 | 2024 |
| Award (this year) | $250,000 |
| NIH project number | 5U01HD114537-02 |
| Project ID | NIH-10915648 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals in Africa diagnosed with developmental disorders or those exhibiting symptoms of such disorders.
✕Less likely to help
Patients with developmental disorders outside of Africa or those whose conditions are not genetically based may not benefit from this research.
What this research studies
This research focuses on understanding the genetic factors contributing to developmental disorders (DD) in African populations, which are often overlooked due to the prevalence of infectious diseases. By utilizing clinical information, genetic data, and DNA resources from the Deciphering Developmental Disorders in Africa (DDD-Africa) study, the research aims to identify disease-causing genetic variants and improve diagnostic methods. The study will employ advanced data science techniques, including artificial intelligence, to enhance the correlation between genetic and clinical data. Ultimately, this research seeks to increase the diagnostic yield for patients with developmental disorders in Africa.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and understanding of developmental disorders in African patients, potentially reducing morbidity and mortality.
How similar studies have gone: Previous research has shown promise in using genetic and data science approaches to improve diagnosis of rare diseases, indicating that this study builds on established methodologies.
Where this research is happening
-
Wits Health Consortium (Pty), LTD
Parktown, South Africa Active
Researchers
- Principal investigator: Lombard, Zane — Wits Health Consortium (Pty), LTD
- Study coordinator: Lombard, Zane
Related research
Other NIH-funded projects on the same topics.
-
Heat-related health risk data science solutions in Africa to protect patients
A US-South Africa research center is using data science and AI to understand how extreme heat affects health and use lessons to protect people in the United States.
-
MADIVA: Using digital tools to study multimorbidity in Africa
A hosted research program in Africa is building advanced data resources and language-model based tools to study how multiple diseases and aging affect people in rural South Africa and urban Kenya.
-
Early heart and metabolic risk prediction in Africa
This project combines genetic information, blood-based signals, and lifestyle details to improve prediction of heart and metabolic disease risk for people in African communities.
-
Protecting people in Africa from harmful heat
This project builds data tools to help communities and health teams prevent heat-related illness, with special focus on pregnant women and newborns in sub-Saharan Africa.
-
Using data science to reduce heat-related health harms in Africa
This project links health, weather, and location data to find ways to protect pregnant people, newborns, and other vulnerable communities in sub‑Saharan Africa from heat-related illness.
-
Setshaba center for HIV and TB prevention and care
A South African clinical research center offers studies of new ways to prevent and treat HIV and tuberculosis for people living in high‑risk communities, including mothers and children.
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.