Initiative Aims to Address Undiagnosed Rare Diseases in Africa

In various regions of Africa, rare diseases frequently remain undiagnosed or untreated, prompting a new initiative designed to transform this scenario. The project focuses on connecting patients with genetic testing and medical support while compiling essential data from affected individuals and their families.

Globally, over 350 million people are afflicted by rare diseases, many stemming from genetic anomalies. While some conditions can be identified early and treated effectively, a lack of resources and demographic data in parts of Africa often leads to numerous individuals remaining undiagnosed. This initiative, spearheaded by dedicated neurologists and researchers, aims to bridge that gap.

Dr. Pedro Rodriguez Cruz, a neurologist in Dakar, Senegal, is at the forefront of this effort. He emphasizes that much of the existing data on rare diseases has been collected predominantly from individuals of European descent. As a result, there is a significant lack of understanding regarding the prevalence and characteristics of these diseases in Africa.

With funding from various organizations, including the La Caixa Foundation in Spain and the National Ataxia Foundation in the United States, Rodriguez is collaborating with global scientists to document rare diseases and their associated genetic variants. His research is contributing to a growing library of genetic data that can benefit both patients in Senegal and the broader scientific community.

One illustrative case involves a young girl named Mariama, who suffered from a condition suspected to be SELENON-related myopathy. Despite receiving medical attention, including lung capacity measurements at Fann hospital, it was too late for effective intervention as her condition had already progressed significantly.

Another patient, Fatoumata Binta Sané's daughter Aissata, struggles with glutaric acidemia type I, a genetic disorder that impedes the body's ability to process certain proteins. Aissata's condition has left her unable to walk or perform basic functions, highlighting the urgent need for early diagnosis and treatment. Unlike in the U.S., where newborns are routinely screened for treatable genetic conditions, such practices are not standard in Senegal, resulting in many infants going undiagnosed.

Sané is currently awaiting genetic test results for her younger daughter, Aminata, who may share a similar condition. The costs associated with treatment pose additional challenges for families, as lifelong management often requires significant financial resources.

Dr. Moustapha Ndiaye, head of the neurology department at Fann Hospital, is optimistic about the future of rare disease management in Africa. He envisions a new generation of physicians trained to handle such cases, thus improving healthcare outcomes across the continent.

The initiative has also seen international collaboration, with a partnership established between Cheikh Anta Diop University in Dakar and the National Center for Genomic Analysis in Barcelona. This partnership enables the collection of blood samples from patients, which are then analyzed for genetic sequencing, contributing valuable data to the global understanding of rare diseases.

In the Gambia, Fatou Samba is navigating the challenges of raising two sons, both diagnosed with genetic disorders. Early diagnosis has allowed them to begin treatment with corticosteroids, which can significantly slow disease progression. Samba expresses gratitude for the timely medical attention, emphasizing the critical nature of early intervention.

As patients and their families seek answers across borders, the importance of collecting comprehensive data cannot be overstated. This data is crucial for ongoing research, policy formulation, and the development of effective treatments for rare diseases. The collaboration among researchers, clinicians, and families is paving the way for a brighter future, one where rare diseases are no longer overlooked in Africa.