It is well known that African populations harbour greater genetic diversity, a characteristic that could potentially shape the epidemiological landscape of hereditary diseases in the continent. However, studies on the association between genetic diversity and its impact on the prevalence of genetic diseases have been limited. Here, we focus on Charcot-Marie-Tooth type 1A (CMT1A), the most common genetic neuropathy in Europeans (40-50% of all CMTs) but under-reported in individuals of African genetic ancestry.

While the under-reporting of CMT1A may be attributed to the limited access to diagnostic tools and the scarcity of neurologists in Africa, our hypothesis is that differences in the genetic architecture of the CMT1A locus between African and European populations could influence disease susceptibility. We will use bioinformatics and population genomic datasets to study the landscape of genetic variation in African individuals and identify genomic patterns that could predispose (or protect) against CMT1A.


In CNAG, as the leading partner in this project, we leverage our expertise in genomic research and bioinformatics to identify patterns of genetic variation associated with Charcot-Marie-Tooth type 1A. By integrating comprehensive genomic analysis techniques with clinical insights, we ensure a multidisciplinary approach that will enable us to uncover the underlying genetic variation responsible for the differences in the prevalence of CMT1A between populations.

This project is funded by AFM-Telethon.