Improving diagnostics, treatment and care in people living with early-onset epilepsy in Rwanda

September 2022 to August 2024
epilepsy genetics
genetic testing
primary healthcare providers
accessible genetic services
accurate diagnosis
University of Rwanda (Rwanda)
Research fields
Medicine and Health Sciences

Epilepsy is one of the most common chronic neurological disorders affecting 70 million people worldwide of whom 85% live in low- and middle-income countries. The epilepsy treatment gap, which includes the diagnosis gap, amounts to 80% in sub-Saharan Africa (SSA). The prevalence in Rwanda is amongst the highest of SSA, estimated at 4.9%, with an epilepsy treatment gap of 91.5% due to diagnostic and therapeutic limitations in rural areas. However, causes underlying the high prevalence in Rwanda have never thoroughly been identified. In Africa, epilepsy is often secondary to perinatal insults, early-life trauma or central nervous system infections. Nonetheless, the cause of epilepsy in over 60% of African children is unknown, suggesting a possible genetic origin. Early-onset epilepsies (EOE) are an important cause for childhood morbidity in the African continent since in 80% of people living with epilepsy in SSA, the first seizure appears before 18 years of age. Thus, the relevance of knowledge on epilepsy genetics in EOE to patient care is evident, especially as early genetic testing can confirm the diagnosis and direct treatment, potentially improving prognosis and quality of life. However, access to human genomic testing is non-existent in Rwanda. Therefore, this project will 1) strengthen the research capacity on EOE by establishing an interdisciplinary research group supporting neurologists, geneticists, residents and PhD students in driving research on the genetic causes of EOE in Rwanda, and 2) improve capacity for accurate diagnosis, treatment and comprehensive care in people with EOE by a) the implementation of genetic testing, b) the educative training of community and primary healthcare providers, and c) the improvement of access to community-based  rehabilitation in remote areas. The goal is to create capacity for accessible genetic services for epilepsy in Rwanda, and beyond, that will improve diagnostics, treatment and quality of comprehensive care provided to patients living with epilepsy by using a community-based approach.