Clinical and genetic studies of hereditary neurological disorders in Mali

总结 尽管非洲人口多样性巨大，但非洲的遗传学研究一直是 有限公司非洲人口，特别是马里人，种族内和 近亲结婚，导致常染色体隐性遗传的患病率增加 疾病在发达国家，以家庭为基础的遗传学研究可能受到限制， 小型船。马里的平均生育率为每名妇女生育6胎以上， 这是一个独特的机会来发现新的疾病基因或突变，然后可以 在其他人群中进行研究。 神经系统疾病在全球范围内对公共卫生构成挑战，导致完全残疾- 调整生命年（DIFE）大于某些传染病。这些 当考虑到遗传性神经疾病时， 造成过早死亡、严重残疾和生产力丧失， 医疗保健费用。虽然目前大多数是无法治愈的，但越来越多的人意识到， 而社区对遗传性神经系统疾病的参与可以减少这一点， 负担 与以前的奖项，我们已经建立了几个家庭的分子缺陷 并确定了新基因的变体，这些基因的功能实验仍在进行中。 正在进行中通过遗传咨询和社区参与会议， 患者和家属以及他们的社区已经获得了关于 这些疾病的原因;解除部分心理负担， 伴侣的选择。然而，一些家庭还没有收到结果， 新冠病毒相关问题或不完整的遗传和功能分析。此外，本发明还提供了一种方法， 社区参与活动没有完成，特别是在人口稠密地区 血缘关系创建罕见病患者协会是一项资产， 实现这一目标。 其他几个家族的测序数据分析还没有定论， 需要对额外的家庭成员进行重新分析或基因分型， 诊断. 与前一个奖项建立的基础设施已经创造了一个合适的 环境进行最先进的研究和培训下一代非洲人 科学家然而，学生和研究员还没有完成他们的国内或国外 由于延误，培训。为了使非洲的研究保持在最新水平，需要 完成对下一代科学家的培训。

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.