{"id":8901,"date":"2020-09-22T21:52:29","date_gmt":"2020-09-22T19:52:29","guid":{"rendered":"https:\/\/h3africa.org\/?page_id=8901"},"modified":"2021-05-18T20:59:03","modified_gmt":"2021-05-18T18:59:03","slug":"clinical-and-genetic-studies-of-hereditary-neurological-disorders-in-mali","status":"publish","type":"page","link":"https:\/\/h3africa.org\/index.php\/clinical-and-genetic-studies-of-hereditary-neurological-disorders-in-mali\/","title":{"rendered":"Clinical and Genetic Studies of Hereditary Neurological Disorders in Mali"},"content":{"rendered":"[vc_row css_animation=”fadeInDown”][vc_column][vc_column_text css_animation=”none” css=”.vc_custom_1590657817569{margin-top: 36px !important;}”]\n
H3Africa Research Project<\/em><\/a><\/h6>\n

Clinical and Genetic Studies of Hereditary Neurological Disorders in Mali<\/h1>\n

The Goal: to identify African patients\/families with hereditary neurological disorders and to identify their underlying genetic defects.<\/h4>\n
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Project Leads<\/h3>\n[\/vc_column_text][vc_row_inner][vc_column_inner width=”1\/3″]
\"landoure\"<\/div><\/div>

Dr. Guida Landoure<\/h4>

University of Sciences, Techniques and Technology of Bamako <\/p>

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The Problem<\/h3>\n

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. Additionally, to understand the mechanism of all genetic disorders and come to therapeutics, there is a need to discover all disease-causing genes.<\/p>\n

Project Strategy<\/h3>\n
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  1. Enroll families with and without hereditary neurological disorders; collect demographical data and perform routine clinical and laboratory testing to accurately assess the condition of patients.<\/li>\n
  2. Perform genetic sequencing to identify genes associated with neurological disorders.<\/li>\n
  3. Community engagement activities and conferences in high schools are held to explain our protocol and some basic genetic principles and expose and interest the young generation to science.<\/li>\n<\/ol>\n

    Successes and Potential Impact<\/h3>\n

    To date, the project
    \u2022 Enrolled 327 families totaling 1179 participants (neurology, rheumatology, and pediatrics)
    \u2022 Identified novel genetic variants (some of the diseases haven\u2019t been previously described in Africa).
    \u2022 Identified three putative novel genes, and families with negative testing for clinically relevant genes.
    \u2022 Trained over 10 students and three postdoctoral fellows in genetics and molecular biology.
    \u2022 Is developing a Master program in medical genetics and post-university training in genetic topics.
    \u2022 Reinforced the Malian Societies of Human Genetics and Neurosciences<\/p>\n

    This project is mitigating disparities in genetic health care delivery between developing and developed and had a significant impact by facilitating the training of students and faculty members in genetics and molecular biology. In addition, incentives and resources have been developed to retain and bring back Malian scientists from abroad. This impact will likely be felt for generations to come.<\/p>\n

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    Project Sites<\/h3>\n

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    A: Mali<\/strong>
    University of Sciences, Techniques and Technology of Bamako, National Institute of Public Health Research, Centre Hospitalier Universitaire de Gabriel Toure, Department of Health<\/p>\n

    Non-African Collaborators:<\/strong>
    USA:<\/strong> NIH, Uniformed Services University of the Health Sciences, Yale University

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    Funding<\/h3>\n
    This work is supported by the U.S. National Institutes of Health (NIH), Office of the Director (OD), the National Institute of Neurological Diseases and Stroke (NINDS), and the National Human Genome Research Institute (NHGRI) grant number U01HG007044.<\/div>\n<\/div>[\/vc_column_text][vc_column_text]\n

    Additional Resources<\/h3>\n[\/vc_column_text][vc_row_inner][vc_column_inner width=”1\/3″][vc_btn title=”Project Publications (PubMed)” style=”custom” custom_background=”#c12000″ custom_text=”#ffffff” shape=”round” align=”center” link=”url:https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F%3Fterm%3DHG007044%255BGrant%2BNumber%255D|title:Mali%20PubMed%20Search|target:%20_blank|”][\/vc_column_inner][vc_column_inner width=”1\/3″][vc_btn title=”Scientific Description and Aims (NIH RePORT)” style=”custom” custom_background=”#c12000″ custom_text=”#ffffff” shape=”round” align=”center” link=”url:https%3A%2F%2Fprojectreporter.nih.gov%2Fproject_info_description.cfm%3Faid%3D9968305%26icde%3D51815437%26ddparam%3D%26ddvalue%3D%26ddsub%3D%26cr%3D1%26csb%3Ddefault%26cs%3DASC%26pball%3D|title:Mali%20NIH%20RePORT|target:%20_blank|”][\/vc_column_inner][vc_column_inner width=”1\/3″][vc_btn title=”Download a PDF of this page” style=”custom” custom_background=”#c12000″ custom_text=”#ffffff” shape=”round” align=”center” link=”url:https%3A%2F%2Fh3africa.org%2Fwp-content%2Fuploads%2F2021%2F05%2FLandoure_H3ACommDoc_v2.pdf|title:Mali%20Comm%20Doc|target:%20_blank|”][\/vc_column_inner][\/vc_row_inner][vc_column_text]\n

    Return to H3A Projects Page<\/a><\/em><\/p>\n[\/vc_column_text][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"

    Hereditary neurological disorders are very disabling diseases that are under-studied in Africa. Our first aim is to clinically characterize these disorders in the Malian population in order to establish a comprehensive clinical description of the diseases in this region. Our second aim is to identify gene mutations related to neurological diseases, and to explore their effects in cell culture models to further our understanding of their function and interactions and our knowledge of <\/p>\n","protected":false},"author":16,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","footnotes":""},"categories":[7,4],"tags":[77],"class_list":["post-8901","page","type-page","status-publish","hentry","category-consortium-documents","category-projects","tag-nih-projects-research"],"_links":{"self":[{"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/pages\/8901","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/users\/16"}],"replies":[{"embeddable":true,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/comments?post=8901"}],"version-history":[{"count":7,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/pages\/8901\/revisions"}],"predecessor-version":[{"id":10499,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/pages\/8901\/revisions\/10499"}],"wp:attachment":[{"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/media?parent=8901"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/categories?post=8901"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/tags?post=8901"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}