Clinical and genetic studies of hereditary neurological disorders in Mali

描述(申请人提供)：尽管非洲人口的多样性很大，但非洲的基因研究一直有限。非洲人口，特别是马里人，种族内和血缘婚姻的比率很高，导致常染色体隐性遗传病的流行增加。在发达国家，以家庭为基础的基因研究可能会受到限制，因为兄弟姐妹的数量很少。马里的平均生育率超过每名妇女6个孩子，这为发现新的疾病基因或突变提供了独特的机会，然后可以在其他人口中进行研究。遗传性神经疾病是非常令人衰弱的疾病，发展中国家，特别是非洲国家，在残疾调整生命年方面付出了高昂的代价。尽管大多数目前无法治愈，但提高人们对遗传性神经疾病的认识可以减轻这一负担。这项研究将有助于识别和表征马里新的遗传性神经疾病基因。这些基因可能对神经系统的正常功能很重要，并对非洲和其他人口具有重要的病理生理学意义。这项研究还将在神经退行性疾病的特征以及基因技术和分子生物学方面培训医生和学生，并建立一个合适的研究环境来留住他们。

DESCRIPTION (provided by applicant): Despite the vast diversity of its populations, genetic studies in Africa have been limited. African populations, Malians in particular, have a high rate o 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. Hereditary neurological diseases are very debilitating diseases, and developing countries, particularly in Africa, pay a high price in terms of disability-adjusted life years. Although most are currently untreatable, increasing awareness about hereditary neurological disorders can reduce this burden. This study will help to identify and characterize novel hereditary neurological disease genes in Mali. These genes are likely to be important in the normal function of the nervous system and to have important pathophysiological implications for African and other populations. This study will also train physicians and students in the characterization of neurodegenerative diseases as well as in genetic technology and molecular biology, and build a suitable research environment that will retain them.