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Washing Dishes


little is known about rare diseaes in Senegal

Rare diseases in Senegal

According to research studies, it is estimated that up to 1,000,000 people could be affected by a rare disease in Senegal [1]. However, very limited information is available on the number of people in Senegal living with rare diseases or the type of rare diseases they suffer from. The fact that there is no recognised definition of rare disease in the country hinders efforts to map rare diseases and develop a nationwide understanding of the impact of these conditions. As a result, policies and coordinated efforts to promote access to health, education and other services for people with rare diseases are suboptimal.
Rare diseases in Africa

Senegal is no exception in sub-Saharan Africa, where information on rare diseases is generally limited. The lack of public policies and the reduced capacity of the public and private sectors to facilitate access to genetic testing have a detrimental effect on the diagnosis and medical care of patients with rare diseases. Furthermore, genetic studies of human diseases are predominantly based on populations of European ancestry people [2], which leaves people of African ancestry under-represented in genetic databases worldwide [3]. The lack of diversity in human genetic research hinders our ability to understand the genetic architecture of human diseases but also, it can lead to a widening health gap in the future  [4]. Here is summary to illustrate the current scenario [5, 6].



1. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020 Feb;28(2):165-173. 

2. Popejoy AB, Fullerton SM. Genomics is failing on diversity. Nature. 2016 Oct 13;538(7624):161-164. 

3. Sirugo G, Williams SM, Tishkoff SA. The Missing Diversity in Human Genetic Studies. Cell. 2019 Mar 21;177(1):26-31.

4. Fatumo S. The opportunity in African genome resource for precision medicine. EBioMedicine. 2020 Apr;54:102721.

5. Taylor-Robinson SD, Spearman CW, Suliman AAA. Why is there a paucity of clinical trials in Africa? QJM. 2021 Oct 7;114(6):357-358. 

6. Gurdasani D, Carstensen T, Tekola-Ayele F et al. The African Genome Variation Project shapes medical genetics in Africa. Nature. 2015 Jan 15;517(7534):327-32.

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