0
0
In many parts of Africa, rare diseases often go undiagnosed and untreated due to limited medical resources, lack of genetic data, and insufficient newborn screening programs. However, a pioneering project led by neurologist Dr. Pedro Rodriguez Cruz at Fann Hospital in Dakar, Senegal, is striving to change this narrative by connecting patients with genetic testing and specialized care while building a vital genetic database for the continent.
The Human Face of Rare Diseases
Ndeye Lam’s story is a poignant example. Her daughter Mariama, who likely suffered from SELENON-related myopathy-a rare muscular dystrophy-passed away after a prolonged struggle with muscle weakness and respiratory failure. Mariama’s condition went undiagnosed for years, a common plight for many African families facing rare genetic disorders.
Similarly, Fatoumata Binta Sané cares for her daughter Aissata, who has glutaric acidemia type I, a metabolic disorder that severely limits mobility and development. Unlike in the U.S., where newborns are routinely screened for such conditions, children in Senegal often remain undiagnosed until irreversible damage occurs. Early diagnosis can mean the difference between life and death, as treatments like strict diets and supplements can prevent severe complications.
Bridging the Gap with Genetic Testing and Global Collaboration
Dr. Rodriguez’s project involves collecting blood samples from patients across West Africa and sending extracted DNA to the National Center for Genomic Analysis in Barcelona for sequencing. This collaboration has enrolled nearly 1,300 participants, helping identify novel gene variants and rare diseases previously undocumented in African populations.
The initiative also includes training young African physicians, such as Dr. Henriette Senghor, to recognize and manage rare diseases, ensuring sustainable medical expertise within the continent. Patients like Woly Diene, diagnosed with riboflavin transporter deficiency, have seen remarkable improvements after receiving appropriate treatment like high-dose vitamin B2.
Challenges and the Road Ahead
Despite promising progress, challenges remain. Lifelong treatment costs are often prohibitive without government or external support. Additionally, funding limitations and the need to strengthen local healthcare infrastructure pose ongoing hurdles.
Prof. Moustapha Ndiaye, head of neurology at Fann, emphasizes the importance of regional collaboration and education, noting that students from across Africa come to Dakar to study rare diseases. The project’s success underscores the critical role of data collection in raising awareness, influencing policy, and driving drug development.
A Message of Hope
Families like Fatou Samba’s, whose sons in The Gambia live with Duchenne muscular dystrophy, express hope that continued research and medical advances will one day lead to cures. For now, access to corticosteroids and supportive care offers some relief.
Dr. Rodriguez and his colleagues remain optimistic. “The need is there,” says Professor Rokhaya Ndiaye of the University of Dakar. “And we have a lot of hope.”
Disclaimer
This article is based on information reported by The Associated Press and published on MedicalXpress on April 27, 2025. While every effort has been made to ensure accuracy, the situation regarding rare diseases and healthcare infrastructure in Africa is complex and evolving. Readers are encouraged to consult original sources and healthcare professionals for detailed information.
Citations:
