This interview was published in “Le Cha\u00eenon – la revue des associations de patients et de proches” of the LUSS, N\u00b0 52 in September 2020.<\/p>\n
Le Cha\u00eenon (LC) : Romain, together with Ludivine Verboogen, you created the 101 Genomes Foundation (F101G) to promote genomic research into rare diseases. Why did you set up this foundation?<\/em><\/strong><\/p>\n Romain Alderweireldt (RA): We created this foundation because my son suffers from a neonatal form of Marfan syndrome. The statistical life expectancy of the few known cases of this form of the disease is barely 16 months.<\/p>\n It was in this difficult context that I became interested in genomic research and that F101G was created.<\/p>\n LC: What have you learned?<\/em><\/strong><\/p>\n RA: By examining a genetic database of “healthy” individuals who serve as research controls, I discovered that it contained numerous variants on the FBN1 gene considered to be “pathogenic” variants at the origin of Marfan syndrome.<\/p>\n LC: Professor Guillaume Smits, what does this observation imply?<\/em><\/strong><\/p>\n Guillaume Smits (GS): The discovery of apparently healthy individuals (or individuals with such low disease penetrance that they are unaware of their illness) carrying pathogenic variants raises the possibility that they may be genetically protected from even the most severe forms of Marfan syndrome, thanks to the action of a so-called protective gene capable of counteracting the failure of the FBN1 gene that causes the disease.<\/p>\n LC: Could identifying this mechanism lead to the development of new treatments?<\/em><\/strong><\/p>\n GS: Potentially, yes. But we still have to identify it within the genome, which is no mean feat! And before that, we need to check that the identified mutations are not the result of classification errors.<\/p>\n LC: How do I go about it?<\/em><\/strong><\/p>\n GS: With (ib)\u00b2, we have developed an algorithm for checking every conceivable mutation in the FBN1 gene, using artificial intelligence. This bioinformatics tool confirmed that several of the mutations identified by Romain are pathogenic.<\/p>\n LC: What next?<\/em><\/strong><\/p>\n GS: The tool already in place could be improved to help diagnose Marfan syndrome. If we could gain access to the genomic data of people with pathogenic mutations in whom the penetrance of the disease is low, we could use the bioinformatics tools developed with Professor Tom Lenaerts to identify a possible protective gene.<\/p>\n This gene could lead to new therapeutic avenues that replicate its protective effects.<\/p>\n RA: The possibility that some people’s genomes might hold the key to curing children suffering from rare diseases led to the creation of the 101 Genomes Foundation, whose mission is to facilitate scientists’ access to the genomes of patients suffering from rare diseases.<\/p>\n By Romain ALDERWEIRELDT, father of a little boy with Marfan syndrome, representative of the Belgian Marfan Syndrome Association to VASCERN and founder of the 101 Genomes Foundation, and Professor Guillaume SMITS, geneticist, Director of the ULB Human Genetics Center and founding member of the Brussels Interuniversity Bioinformatics Institute (ib)\u00b2.<\/strong><\/p>\n <\/p>\n","protected":false},"excerpt":{"rendered":" This interview was published in “Le Cha\u00eenon – la revue des associations de patients et de proches” of the LUSS, …<\/p>\n","protected":false},"author":3,"featured_media":3255,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":false,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2}},"categories":[62],"tags":[],"class_list":["post-4284","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-gemvap-en"],"acf":[],"yoast_head":"\n
\n For more information: <\/em>
\n<\/strong>101 Genomes Foundation: f101g.org<\/a> | (ib)\u00b2 : https:\/\/ibsquare.be\/<\/a><\/p>\n