Clinical and Genetic Studies of Hereditary Neurological Disorders in Mali

Principal Investigator: Guida Landoure
 
Institute: University of Bamako, Mali

Lay Description: 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 common disease mechanisms. Our third aim is to provide training and post-training incentives for Malian physicians and students in order to maintain them locally and insure that research is current.

Aims:

Specific aim 1. To characterize families with hereditary neurological diseases by evaluating patients with a neurodegenerative disease and a family history of the disease. Based on our previous studies, we hypothesize that hereditary neurological disorders are not uncommon in Mali, and that novel clinical entities are present in the Malian population. We will continue characterizing families with hereditary neurological disorders in order to establish their spectrum in this region. We will also enhance our developed awareness strategies and community engagement to reach more people, especially vulnerable populations.

Specific aim 2. To identify gene mutations related to neurological diseases, and to explore their effects in cell culture models. We hypothesize that we will identify more novel genetic variants and disease genes in the Malian population and other populations from West Africa, with implications for other populations abroad. We will use exome sequencing of larger numbers of affected and unaffected individuals will efficiently lead to identification of novel sequence variants.

Specific aim 3. To provide training for Malian physicians and students using newly acquired infrastructure and expose the general population to the basic concepts of genetic diseases. We will create a suitable training environment for genetic health practitioners who will inform, raise awareness, and educate Malians about basic genetic concepts and their implications in diseases. We believe this study will help expand medical genetic services in Mali and in neighboring countries.