Review of Studies of African Genome in the Rare Diseases Causes: Disease Burden, Barrier and Challenges, Current Practice and Future Approaches.

Abstract

People living with rare diseases face significant challenges during their lifetimes. These challenges include delayed diagnosis, unavailable treatments and the poor quality of life associated with the chronic illnesses. These health inequalities are more common in Africa. Most diseases are genetic in origin. The hereditary nature of the rare diseases makes them cluster in families thereby intensifying the burden for those affected. The study of genetics can help come up with solutions for people living with rare diseases. Genomics can help reduce the time taken for diagnosis, identify new rare diseases and pave the way for new treatments through genetic manipulation. This literature review noted the burden and challenges of rare diseases in Africa and available resources and funding models. It was noted that the African genome was unique and diverse. The challenges noted were paucity of data, financial constraints, cultural barriers, historical exploitation, poor infrastructure and limited expertise. Significant progress has been made in addressing the health inequalities with the formation of patient advocacy groups and genomic programs such as national genomic reference databases.

Keywords: Rare diseases, African Genome, Health inequalities, Disease burden