Rare genetic diseases remain massively underdiagnosed in Africa, This is due to the lack of newborn screening, the shortage of medical genetics specialists, and the inaccessibility of molecular testing. A pioneering initiative is changing this reality.
A groundbreaking pilot project in West Africa
Since 2021, a collaboration between the Dr. Pedro Rodriguez Cruz (clinical neurologist), the’Cheikh Anta Diop University of Dakar and the National Center for Genomic Analysis of Spain This has enabled the launch of an unprecedented pilot project on the continent. Its three objectives:
- 🧬 Offering free genetic tests to patients in Senegal, Gambia and West Africa
- 📊 To constitute a African genetic database useful for global research
- 🎓 To train and raise awareness local healthcare professionals in clinical genetics
Concrete results — 1,300 patients and families
The project has already recruited 1,300 patients and families. Clinical cases illustrate the direct impact on patient prognosis:
- ✅ Riboflavin deficiency — diagnosis made and effectively treated with vitamin B2
- ✅ Duchenne dystrophy — detected early, allowing for treatment with corticosteroids
- ✅ Glutaric acidemia — Metabolic disease diagnosed in a child, preventing severe neurological complications
A model to be generalized
This project demonstrates that a tailored, contextualized, and collaborative genomic approach is possible on the African continent—with a direct impact on patient outcomes. Genomic medicine should not remain a luxury reserved for developed countries.
For healthcare professionals, this advancement underscores the importance of genetic testing in the investigation of any unexplained pathology. It should be closely monitored and actively supported to build a genuine African capacity in clinical genetics.
— The AFCRA SMO Team
🌐 www.afcra-smo.org | 📩 Contact us
Tags: #MecineGenomics | #RechercheCliniqueAfrique | #GenétiqueMéthodesMéthodesRares | #DéstageNeonatal | #AFCRA