Fragile X syndrome in Ricaurte, Colombia

This book tells how Ricaurte is a genetic cluster of Fragile X syndrome (FXS) with the highest prevalence in the world through a research project co-funded by the Universidad del Valle and the MIND Institute of the University of California at Davis. SXF is described in depth, from genomics, through the genotype and phenotype of SXF to treatment in experimentation. In addition, the characteristics of Ricaurte, a township in the municipality of Bolivar in Valle del Cauca, are shown, including its foundation, social contextualization, its regional visualization marked by a religious and national context by the book El Divino by the writer Gustavo Alvarez Gardeazabal, which describes the intellectual disability of a significant number of its inhabitants who are masterfully described in that book. It also describes the project “Population medical genetics in a Colombian township with high prevalence of Fragile X syndrome”, which was an ambitious proposal, which in addition to establishing the prevalence of allelic variants gray zone, permutation and complete mutation of the FMR1 gene and its comparison with the accepted global prevalence, a public health intervention with genetic and reproductive counseling to those who could have children affected by FXS or suffer from associated diseases, such as FXTAS or FXPOI, was achieved. With the methodology of reaching the homes and all the inhabitants, requesting informed consent, taking blood samples, delivering results, establishing inter-family relationships through specialized software and doing genetic and reproductive counseling, it shows how the researchers were integrated with the community on a daily basis and understood the reality of the country in poor families with several members with intellectual disabilities or the fears of those who might have affected children; It was possible to demonstrate that Ricaurte is a genetic conglomerate of SXF with the highest prevalence in the world, where there is the family with the highest number of affected members reported in the literature and where an intervention was made that will impact with the decrease in the number of new cases in order to prevent the perpetuation of the genetic and secondary social problem.