A medical research project is helping people with rare diseases in West Africa receive early diagnosis and possible treatment. The study, led by neurologist Dr. Pedro Rodriguez Cruz, started in 2021 and is based at Fann Hospital in Dakar, Senegal. A partnership was created between Cheikh Anta Diop University and the National Center for Genomic Analysis in Spain. The project collects blood samples from patients and families. These samples are sent to Barcelona, where scientists extract DNA and examine it for disease-causing mutations. The study has already enrolled around 1,300 participants from Senegal and other West African countries. The goal is to address the lack of genetic data in African populations, where many rare diseases remain undetected due to limited healthcare resources and testing options.

The research has helped doctors identify conditions such as Duchenne muscular dystrophy, glutaric acidemia type I, and riboflavin transporter deficiency. These diseases often affect muscle strength, speech, movement, and breathing. In some cases, early treatment has improved patients’ quality of life. For example, one woman who lost the ability to walk and hear began recovering after starting high-dose vitamin B2. Some children have shown progress with corticosteroid medication. The initiative is supported by international organizations, including the La Caixa Foundation and the National Ataxia Foundation. Medical experts have emphasized that collecting genetic data is fundamental for advancing treatment, developing policies, and ensuring equitable healthcare. Educating local doctors and strengthening infrastructure remain key challenges. However, researchers have expressed optimism that scientific collaboration will lead to long-term solutions for rare disease patients in the region.