Clinical and genetic studies of hereditary neurological disorders in Mali

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Summary Despite the vast diversity of its populations, genetic studies in Africa have been limited. African populations, Malians in particular, have a high rate of intra-ethnic and consanguineous marriage, resulting in increased prevalence of autosomal recessive diseases. Family-based genetic studies can be limited in developed countries due to small sib ships. The average fertility rate in Mali is over 6 births per woman, offering a unique opportunity to find new disease genes or mutations that can then be studied in other populations. Neurological disorders present public health challenges globally with total disability- adjusted life years (DALYs) greater than some infectious diseases. These challenges are even greater when considering hereditary neurological diseases that cause premature death, severe disability and loss of productivity, resulting in high health care costs. Although most are currently untreatable, increasing awareness and community engagement about hereditary neurological disorders can reduce this burden. With previous awards, we have established the molecular defects in several families and identified variants in novel genes for which functional experiments are still underway. Through genetic counseling and community engagement session, patients and families as well as their communities have gained knowledge regarding the cause of these diseases; lifting in part the psychosocial burden, and orienting their partner choice. However, several families haven’t received their results due to covid-19-related issues or incomplete genetic and functional analyses. In addition, community engagement activities were not completed, especially in areas with high consanguinity. The creation of rare disease patients’ association is an asset to accomplish this objective. Sequencing data analysis in several other families has been inconclusive, necessitating reanalysis or genotyping of additional family members to come to a diagnosis. The infrastructures built with the previous award have created a suitable environment to perform state-of-art research and train the next generation African scientists. However, students and fellows haven’t finished their in- or out of country training due to delays. To keep research current in Africa, there is a need to complete the training of these next-generation scientists.