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Aurora magazine

Discovered where a rare genetic disease is transmitted

Chronic intestinal atrial dysrhythmia syndrome is a rare disease that affects the heart and the digestive system. A team of Canadian scientists has studied geology in Quebec, so as to understand where it develops the most. To do this, they used a software called ISGen that analyzed the DNA of more than 3.4 million people of European origin. In this way they found the roots of the disease in the first French immigrants, who arrived in Canada around the seventeenth century.

Beyond the historical interest of the discovery, the software has identified the regions of Quebec most subject to the disease. ISGen has simulated the different modes of transmission of the rare allele. In relation to the inheritance patterns of alleles, he considered the possible genotypes present in the database. Furthermore, he took into account the frequency of ancestral alleles and observed the genotypes of certain individuals within the genealogy.

Overall, the researchers analyzed genealogical data of about 3.4 million individuals, spread over 17 generations. Geographic information was also available for 2.7 million individuals. The analyzes also used data from the genotypes obtained from a regional project, obtained using the Illumina technology. Thanks to this approach, they traced the allele responsible for the disease.

The scientists followed the path of the offending allele, arriving at two original families. The first carriers of the disease were no more than 5. Today in Quebec the syndrome of chronic intestinal atrial dysrhythmia manifests itself in an individual every 24,025. According to the authors of the study, it is therefore important to concentrate genetic screening in this area.