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. Our previous studies have established the molecular defects in a good number of families and identified variants in novel genes. 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, more work is needed for a full understanding of the mechanism of these diseases. Despite the increased number of trained physicians and students in the characterization of these diseases and the basics in genetics, many other families haven’t gotten access to medical genetic services. Standard genetic testing in several other families has been inconclusive, confirming our premise that Malians have specific phenotypic variants of hereditary neurological disorders that may be due to novel mutations or to mutations in as yet undiscovered genes. 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. To ensure sustainability, African government should be fully engaged to empower genetic training and research funding. With this support, African scientists and clinicians would be ready to meet emerging medical genetics and genomic challenges. With the commitment of some African leaders and philanthropists, there is a hope that Africans will soon fund a big part of the research in Africa.