{"id":30088,"date":"2025-02-19T08:37:35","date_gmt":"2025-02-19T13:37:35","guid":{"rendered":"https:\/\/genomequebec.wp.vortexdev.com\/?page_id=30088"},"modified":"2025-11-06T18:04:08","modified_gmt":"2025-11-06T23:04:08","slug":"rare-diseases","status":"publish","type":"page","link":"https:\/\/genomequebec.wp.vortexdev.com\/en\/genomics\/societal-challenges\/rare-diseases\/","title":{"rendered":"Rare Diseases"},"content":{"rendered":"\n<h3 class=\"wp-block-heading has-blue-600-color has-text-color has-link-color wp-elements-e45ddc0a84edb154507f381caa5bc00e\">Rare diseases: genomics at the service of patients<\/h3>\n\n\n\n<div class=\"wp-block-media-text has-media-on-the-right is-stacked-on-mobile is-vertically-aligned-center\" style=\"grid-template-columns:auto 66%\"><div class=\"wp-block-media-text__content\">\n<h5 class=\"wp-block-heading has-text-align-left\" style=\"margin-top:0;margin-bottom:0;padding-left:var(--wp--preset--spacing--80)\">Rare diseases affect almost <strong>700,000 people. <\/strong>Of these, 30% of young patients die before the age of 5.<\/h5>\n<\/div><figure class=\"wp-block-media-text__media\"><img decoding=\"async\" width=\"1024\" height=\"546\" src=\"https:\/\/genomequebec.wp.vortexdev.com\/wp-content\/uploads\/2025\/11\/Retombees_maladies-rares_EN-1024x546.png\" alt=\"\" class=\"wp-image-33297 size-full\" srcset=\"https:\/\/genomequebec.wp.vortexdev.com\/wp-content\/uploads\/2025\/11\/Retombees_maladies-rares_EN-1024x546.png 1024w, https:\/\/genomequebec.wp.vortexdev.com\/wp-content\/uploads\/2025\/11\/Retombees_maladies-rares_EN-300x160.png 300w, https:\/\/genomequebec.wp.vortexdev.com\/wp-content\/uploads\/2025\/11\/Retombees_maladies-rares_EN-768x409.png 768w, https:\/\/genomequebec.wp.vortexdev.com\/wp-content\/uploads\/2025\/11\/Retombees_maladies-rares_EN.png 1420w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure><\/div>\n\n\n\n<h5 class=\"wp-block-heading has-secondary-color has-text-color has-link-color wp-elements-9a99da263212325ffb97cbb4006a9c88\">To find out more, here&#8217;s a short, highly instructive video on the subject!<\/h5>\n\n\n\n<figure class=\"wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe title=\"Le casse-t\u00eate des maladies rares\" width=\"422\" height=\"750\" src=\"https:\/\/www.youtube.com\/embed\/A9dTgAB3GKQ?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>\n<\/div><\/figure>\n\n\n\n<div style=\"height:45px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h5 class=\"wp-block-heading has-secondary-color has-text-color has-link-color wp-elements-a74a38c7bfe1e04aec98550de4e971d6\">G\u00e9nome Qu\u00e9bec&#8217;s commitment<\/h5>\n\n\n\n<p>Over the past 25 years, G\u00e9nome Qu\u00e9bec has managed <strong>35 rare disease projects<\/strong>, representing a total investment of more than<strong> $55 million in research<\/strong>, including $17.3 million funded by the Minist\u00e8re de l&#8217;\u00c9conomie, de l&#8217;Innovation et de l&#8217;\u00c9nergie (MEIE) through G\u00e9nome Qu\u00e9bec.<\/p>\n\n\n\n<div class=\"block-accordions-group theme-block theme-block--innerblock aligndefault\">\n    <span class=\"theme-block__label\">Accordions<\/span>\n  \n    \n<div class=\"block-accordion  theme-block theme-block--innerblock aligndefault\">\n    <span class=\"theme-block__label\">Accordion<\/span>\n    <h3 class=\"block-accordion__title\">Here is the list of rare disease research projects:<\/h3>\n    \n\n<ul class=\"wp-block-list\">\n<li>Nancy Braverman:\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/central-nervous-system-directed-gene-therapy-to-improve-ataxia-and-neurodegeneration-in-a-pex16-mouse-model\/\" target=\"_blank\" rel=\"noreferrer noopener\">Central nervous system-directed gene therapy to improve ataxia and neurodegeneration in a Pex16 mouse model<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/mrna-therapy-to-prevent-liver-disease-progression-in-zellweger-spectrum-disorder\/\" target=\"_blank\" rel=\"noreferrer noopener\">mRNA Therapy to Prevent Liver Disease Progression in Zellweger Spectrum Disorder<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Jacques L. Michaud : \n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/rapid-whole-genome-sequencing-in-acute-care-neonates-and-infants\/\" target=\"_blank\" rel=\"noreferrer noopener\">Rapid whole genome sequencing in acute care neonates and infants<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u00c9ric L\u00e9cuyer et Pascal Chartrand :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/determining-the-repertoires-and-therapeutic-potential-of-rna-binding-proteins-that-undergo-sequestration-by-toxic-repeat-rna-in-spinocerebellar-ataxias\/\" target=\"_blank\" rel=\"noreferrer noopener\">Determining the repertoires and therapeutic potential of RNA binding proteins that undergo sequestration by toxic repeat RNA in spinocerebellar ataxias<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u00c9ric Samarut et Martine T\u00e9treault :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/dissecting-the-pathogenic-mechanisms-of-canvas-to-develop-further-therapeutic-strategies\/\" target=\"_blank\" rel=\"noreferrer noopener\">Dissecting the pathogenic mechanisms of CANVAS to develop further therapeutic strategies<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Paul Goodyer : \n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/an-mrna-strategy-to-restore-ctns-expression-in-cystinosis\/\" target=\"_blank\" rel=\"noreferrer noopener\">An mRNA strategy to restore CTNS expression in Cystinosis<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/novel-aminoglycoside-readthrough-therapy-for-nonsense-mutations\/\" target=\"_blank\" rel=\"noreferrer noopener\">Novel Aminoglycoside Readthrough Therapy for Nonsense Mutations<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/cell-therapy-of-cystinosis\/\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/cell-therapy-of-cystinosis\/\" target=\"_blank\" rel=\"noreferrer noopener\">Cell therapy of cystinosis<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Jo Anne Stratton :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/rna-therapies-for-the-treatment-of-a-rare-leukodystrophy\/\" data-type=\"link\" data-id=\"https:\/\/genomequebec.wp.vortexdev.com\/projets-finances\/therapies-a-base-darn-pour-le-traitement-dune-rare-leucodystrophie\/\">RNA therapies for the treatment of a rare leukodystrophy<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/rna-therapies-for-the-treatment-of-neurofibromatosis-type\/\" target=\"_blank\" rel=\"noreferrer noopener\">RNA therapies for the treatment of Neurofibromatosis type<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Ma\u2019n Zawati : \n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/all-for-one-policy-toolkit\/\" data-type=\"link\" data-id=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/all-for-one-policy-toolkit\/\">All for One Policy Toolkit<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Fran\u00e7ois Rousseau : \n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/non-invasive-early-prenatal-screening-for-fetal-aneuploidy\/\" target=\"_blank\" data-type=\"link\" data-id=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/non-invasive-early-prenatal-screening-for-fetal-aneuploidy\/\" rel=\"noreferrer noopener\">Non-Invasive Early Prenatal Screening for Fetal Aneuploidy<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/personnalisation-par-la-genomique-du-depistage-des-aneuploidies-dans-le-sang-maternel-pegase\/\" target=\"_blank\" rel=\"noreferrer noopener\">PEGASUS: Personalized Genomics for Prenatal Aneuploidy Screening Using Maternal Blood<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/PEGASUS-2: Personalized Genomics for Prenatal Abnormalities Screening Using Maternal Blood: Towards first-tier screening and beyond\" target=\"_blank\" rel=\"noreferrer noopener\">P\u00c9GASE-2 : Personnalisation par la g\u00e9nomique du d\u00e9pistage pr\u00e9natal d&#8217;anomalies chromosomiques dans le Sang maternel : vers un d\u00e9pistage de premi\u00e8re ligne<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Rafik Tadros :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/integrating-polygenic-scores-in-clinical-cardiogenetic\/\" target=\"_blank\" rel=\"noreferrer noopener\">Integrating Polygenic Scores in Clinical Cardiogenetic<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Karine Tremblay :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/personalization-of-treatment-for-inflammatory-bowel-diseases\/\" target=\"_blank\" rel=\"noreferrer noopener\">Personalization of Treatment for Inflammatory Bowel Diseases<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Julie Gauthier :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/genome-sequencing-and-biological-signature-for-the-diagnosis-of-hereditary-angioedema-with-normal-c1-inhibitor\/\" data-type=\"link\" data-id=\"https:\/\/genomequebec.wp.vortexdev.com\/projets-finances\/sequencage-du-genome-et-signature-biologique-pour-le-diagnostic-de-langiooedeme-hereditaire-c1-inh-normal\/\">Genome sequencing and biological signature for the diagnosis of hereditary angioedema with normal C1 inhibitor<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Felix Ratjen et Bartha Maria Knoppers :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/mapping-and-isolation-of-genes-influencing-severity-of-disease-in-cystic-fibrosis\/\" target=\"_blank\" data-type=\"link\" data-id=\"https:\/\/genomequebec.wp.vortexdev.com\/projets-finances\/sequencer-et-isoler-les-genes-ayant-une-influence-sur-la-gravite-de-la-fibrose-kystique\/\" rel=\"noreferrer noopener\">Mapping and Isolation of Genes Influencing Severity of Disease in Cystic Fibrosis<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Kym Boycott et Jacques L. Michaud :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomecanada.ca\/project\/defining-a-canadian-data-solution-that-will-deliver-precision-health-for-rare-genetic-disease\/\" target=\"_blank\" rel=\"noreferrer noopener\">Defining a Canadian data solution that will deliver precision health for rare genetic disease<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/genomecanada.ca\/fr\/project\/amelioration-des-soins-pour-les-maladies-genetiques-rares-au-canada\/\" target=\"_blank\" rel=\"noreferrer noopener\">Enhanced <\/a><a href=\"https:\/\/genomecanada.ca\/project\/enhanced-care-rare-genetic-diseases-canada\/\" target=\"_blank\" rel=\"noreferrer noopener\">CARE for RARE Genetic Diseases in Canada<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/genomecanada.ca\/project\/finding-rare-disease-genes-canada-forge-canada\/\" target=\"_blank\" data-type=\"link\" data-id=\"https:\/\/genomequebec.wp.vortexdev.com\/projets-finances\/decouverte-de-genes-a-lorigine-des-maladies-rares-au-canada-forge-canada\/\" rel=\"noreferrer noopener\">Finding of Rare Disease Genes in Canada (FORGE Canada)<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/expanding-the-use-of-genomics-to-unravel-rare-diseases-care4rare-expand\/\" target=\"_blank\" rel=\"noreferrer noopener\">Expanding the Use of Genomics to Unravel Rare Diseases: Care4Rare EXPAND<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Kym Boycott et Bartha Maria Knoppers :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomecanada.ca\/project\/care4rare-canada-harnessing-multi-omics-deliver-innovative-diagnostic-care-rare-genetic-diseases\/\" target=\"_blank\" data-type=\"link\" data-id=\"https:\/\/genomecanada.ca\/fr\/project\/care4rare-canada-mobiliser-plusieurs-sciences-en-omique-pour-offrir-des-soins-diagnostiques\/\" rel=\"noreferrer noopener\">Care4Rare Canada: Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada (C4R-SOLVE)<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Alex Parker :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/improving-the-efficiency-of-drug-discovery-for-rare-genetic-diseases-by-combining-omics-data-and-machine-learning\/\" target=\"_blank\" data-type=\"link\" data-id=\"https:\/\/genomequebec.wp.vortexdev.com\/projets-finances\/ameliorer-lefficacite-de-la-decouverte-de-medicaments-pour-les-maladies-genetiques-rares-en-combinant-les-donnees-omiques-et-lapprentissage-automatique-2\/\" rel=\"noreferrer noopener\">Improving the efficiency of drug discovery for rare genetic diseases by combining omics data and machine learning<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Donald Vinh et Vincent Ferretti :\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/rare-qc-pillar-1-database-and-biobank\/\" target=\"_blank\" data-type=\"link\" data-id=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/financed-project\/rare-qc-pillar-1-database-and-biobank\/\" rel=\"noreferrer noopener\">RARE.QC : Pillar 1 \u2013 Database and biobank<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Luigi Bouchard\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/free-easy-and-targeted-access-to-genetic-testing-for-people-from-saguenay-lac-saint-jean-charlevoix-and-haute-cote-nord\/\" target=\"_blank\" rel=\"noreferrer noopener\">Precision genetic screening for populations: A proof of concept applied to people from the Saguenay-Lac-Saint-Jean, Charlevoix and Haute-C\u00f4te-Nord<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Beno\u00eet Gentil\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/conversion-of-a-gene-therapy-into-an-rna-therapy-using-a-novel-nanoparticle-system\/\" target=\"_blank\" rel=\"noreferrer noopener\">Conversion of a gene therapy into an RNA therapy using a novel nanoparticle system<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>John Hanrahan\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/long-term-correction-of-6211gt-in-cystic-fibrosis-airways\/\" target=\"_blank\" rel=\"noreferrer noopener\">Long term correction of 621+1G&gt;T in Cystic Fibrosis airways<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Larry Lands and Jacques P. Tremblay\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/leave-no-one-behind-development-of-a-genetic-therapy-for-people-living-with-cystic-fibrosis-who-do-not-respond-to-available-modulators\/\" target=\"_blank\" rel=\"noreferrer noopener\">Leave No One Behind: development of a genetic therapy for people living with Cystic Fibrosis who do not respond to available modulators<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Simon Girard\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/pre-diagnostic-genetic-and-genealogical-analysis-of-rare-diseases-in-the-saguenay-lac-saint-jean-region\/\" target=\"_blank\" rel=\"noreferrer noopener\">Pre-diagnostic genetic and genealogical analysis of rare diseases in the Saguenay\u2013Lac-Saint-Jean region<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Steven Kembel et Nicolas Pilon\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/using-genomics-to-identify-microbes-that-improve-treatment-efficacy-for-hirschsprung-disease\/\" target=\"_blank\" rel=\"noreferrer noopener\">Using genomics to identify microbes that improve treatment efficacy for Hirschsprung disease<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>S\u00e9bastien L\u00e9vesque\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/non-invasive-prenatal-genomic-test-nipgt-for-severe-monogenic-diseases-in-the-fetus\/\" target=\"_blank\" rel=\"noreferrer noopener\">Non-Invasive Prenatal Genomic Test (NIPGT) for Severe Monogenic Diseases in the Fetus<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Thomas Durcan\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/integration-of-patient-transcriptomic-data-into-an-in-silico-model-for-the-discovery-of-therapies-for-amyotrophic-lateral-sclerosis\/\" target=\"_blank\" rel=\"noreferrer noopener\">Integration of patient transcriptomic data into an in silico model for the discovery of therapies for amyotrophic lateral sclerosis<\/a>&nbsp;<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Natalie Matthews\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/argus-study-a-comprehensive-multilayer-approach-to-investigate-genetic-causes-of-inherited-hemostatic-and-thrombotic-disorders\/\" target=\"_blank\" rel=\"noreferrer noopener\">ARGUS Study: A Comprehensive Multilayer Approach to Investigate Genetic Causes of Inherited Hemostatic and Thrombotic Disorders<\/a>&nbsp;<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n<\/div>\n\n                    \n\n\n<\/div>\n\n\n\n<p>Thanks to new genomic technologies, we can now make a genetic diagnosis for 36% of children with rare diseases in just 28 days (on average). This breakthrough means that we can:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Adaptation of clinical management in 60% of cases<\/li>\n\n\n\n<li>Support for families in 31% of cases<\/li>\n<\/ul>\n\n\n\n<p>By investing in research and working with its collaborators, G\u00e9nome Qu\u00e9bec supports all aspects of research, from population screening to diagnosis and the discovery of new treatments.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h5 class=\"wp-block-heading has-secondary-color has-text-color has-link-color wp-elements-d3a6a9123fccc3d93735a23e33f1c61f\">A network of strategic partnerships to accelerate research<\/h5>\n\n\n\n<p>G\u00e9nome Qu\u00e9bec works closely with several organisations and institutions to support innovation in genomics and accelerate the development of therapies for rare diseases. Recent initiatives include:<\/p>\n\n\n\n<p><strong>Tackle rare cystic fibrosis mutations: Partnership with Cystic Fibrosis Canada<\/strong><\/p>\n\n\n\n<p><span style=\"text-decoration: underline;\">Joint investment of $1.2 million<\/span><\/p>\n\n\n\n<p>In March 2025, G\u00e9nome Qu\u00e9bec and <strong>Cystic Fibrosis Canada<\/strong> announced a research investment in two projects focusing on rare genetic mutations that are linked to cystic fibrosis and that do not respond to current treatments. The projects have the long-term goal of developing new adapted therapies.&nbsp;<\/p>\n\n\n\n<p>To learn more about this research investment: <a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/news-and-publications\/genome-quebec-and-cystic-fibrosis-canada-invest-1-2-million-in-research-tackling-rare-orphan-cftr-mutations\/\" target=\"_blank\" rel=\"noreferrer noopener\">G\u00e9nome Qu\u00e9bec and Cystic Fibrosis Canada invest $1.2 million in research tackling rare, orphan CFTR mutations<\/a>&nbsp;<\/p>\n\n\n\n<p><strong>Support for the network to advance research on rare diseases in Qu\u00e9bec (RARE.Qc)<\/strong><\/p>\n\n\n\n<p><span style=\"text-decoration: underline;\">Total investment of over $750,000<\/span><\/p>\n\n\n\n<p>In February 2025, G\u00e9nome Qu\u00e9bec, in collaboration with <strong>RARE.Qc<\/strong>, the <strong>CHU Sainte-Justine<\/strong>, and the <strong>Fonds de recherche du Qu\u00e9bec \u2013 Sant\u00e9 (FRQS)<\/strong>, adapted the <strong>Centre qu\u00e9b\u00e9cois de donn\u00e9es g\u00e9nomiques (CQDG)<\/strong>. Together, they are creating a world-class infrastructure for data sharing, accelerating diagnostics and treatments for rare diseases.<\/p>\n\n\n\n<p>Learn more: <a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/news-and-publications\/genome-quebec-invests-over-750000-to-support-the-rare-qc-networks-activities\/?utm_source=chatgpt.com\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/news-and-publications\/genome-quebec-invests-over-750000-to-support-the-rare-qc-networks-activities\/\" target=\"_blank\" rel=\"noreferrer noopener\">G\u00e9nome Qu\u00e9bec invests over $750,000 to support the RARE.Qc network&#8217;s activities<\/a><\/p>\n\n\n\n<p><strong>Innovative Therapies for Hereditary Ataxias: Partnership with Ataxia Canada and Muscular Dystrophy Canada<\/strong><\/p>\n\n\n\n<p><span style=\"text-decoration: underline;\">Total investment of over $850,000&nbsp;<\/span><\/p>\n\n\n\n<p>In March 2024, G\u00e9nome Qu\u00e9bec, in collaboration with <strong>Ataxia Canada<\/strong> and <strong>Muscular Dystrophy Canada<\/strong>, funded several projects aimed at developing innovative therapies for hereditary ataxias. This competition is part of Axis 3 of the plan d&#8217;action qu\u00e9b\u00e9cois sur les maladies rares, which focuses on promoting research and innovation.&nbsp;<\/p>\n\n\n\n<p>To find out more about the latest results of this partnership: <a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/news-and-publications\/funding-innovative-projects-to-counter-hereditary-ataxias\/\" target=\"_blank\" rel=\"noreferrer noopener\">Funding innovative projects to counter hereditary ataxias<\/a><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h5 class=\"wp-block-heading has-secondary-color has-text-color has-link-color wp-elements-dc83558ef8ea27754aca77ba0c58cc11\">PRAGMaTIQ: an example of a revolutionary advance in the diagnosis of rare diseases in all children under the age of 18 in Qu\u00e9bec<\/h5>\n\n\n\n<p>One of the flagship projects supported by G\u00e9nome Qu\u00e9bec is <strong><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/rapid-whole-genome-sequencing-in-acute-care-neonates-and-infants\/\" target=\"_blank\" rel=\"noreferrer noopener\">PRAGMaTIQ,<\/a><\/strong> directed by <strong>Jacques Michaud<\/strong>. This project is tackling one of the major challenges of diagnosing rare genetic diseases in seriously ill newborns and children.<\/p>\n\n\n\n<p><strong>Why is this project so important?<\/strong><\/p>\n\n\n\n<p>The precise diagnosis of rare genetic diseases in toddlers is often very difficult, because their symptoms are:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Non-specific<\/li>\n\n\n\n<li>Different from those observed in older patients<\/li>\n<\/ul>\n\n\n\n<div class=\"wp-block-media-text has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 58%\"><div class=\"wp-block-media-text__content\">\n<p><strong><a href=\"https:\/\/genomequebec.wp.vortexdev.com\/en\/funded-projects\/rapid-whole-genome-sequencing-in-acute-care-neonates-and-infants\/\" target=\"_blank\" rel=\"noreferrer noopener\">PRAGMaTIQ<\/a><\/strong> <strong>project goals<\/strong>:<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Development of a rapid clinical whole genome sequencing program<\/strong>, available to all seriously ill newborns and children in hospital care in the province.<\/li>\n\n\n\n<li><strong>Implementation of this program in the Qu\u00e9bec healthcare system<\/strong>, to improve access to early genetic diagnosis.<\/li>\n<\/ol>\n\n\n\n<p>Thanks to this innovative project, Qu\u00e9bec could become a leader in the integration of rapid genomic sequencing in paediatrics for all children suspected of having a rare disease, facilitating informed clinical decisions and appropriate management from the very first days of life.<\/p>\n<\/div><figure class=\"wp-block-media-text__media\"><img decoding=\"async\" width=\"5760\" height=\"3840\" src=\"https:\/\/genomequebec.wp.vortexdev.com\/wp-content\/uploads\/2025\/02\/image_main-de-bebe.jpg\" alt=\"\" class=\"wp-image-30302 size-full\"\/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h5 class=\"wp-block-heading has-secondary-color has-text-color has-link-color wp-elements-d5414d1b725dec0c326659f402e3080c\">A structuring policy framework<\/h5>\n\n\n\n<p>The <a href=\"https:\/\/publications.msss.gouv.qc.ca\/msss\/fichiers\/2023\/23-916-02W.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">Plan d\u2019action qu\u00e9b\u00e9cois sur les maladies rares 2023-2027<\/a>, wich stems from <a href=\"https:\/\/publications.msss.gouv.qc.ca\/msss\/fichiers\/2022\/22-916-01W.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">Politique qu\u00e9b\u00e9coise pour les maladies rares (2022)<\/a>, aims to :<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Improving access to diagnosis and care thanks to advances in genomics<\/li>\n\n\n\n<li>Improving training and awareness among healthcare professionals<\/li>\n\n\n\n<li>Promoting research and innovation to accelerate the development of new therapies<\/li>\n<\/ul>\n\n\n\n<p>These initiatives will enable better coordination of efforts between the various players in the R\u00e9seau qu\u00e9b\u00e9cois de diagnostic mol\u00e9culaire and encourage the development of specialist reference centres.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h4 class=\"wp-block-heading has-secondary-color has-text-color has-link-color wp-elements-d51da780e5c54d2c433909589ad73bac\">In the media<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.lapresse.ca\/actualites\/sciences\/2025-02-27\/le-depistage-des-maladies-rares-bientot-elargi.php\" target=\"_blank\" rel=\"noopener\">Le d\u00e9pistage des maladies rares bient\u00f4t \u00e9largi | La Presse<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/ici.radio-canada.ca\/nouvelle\/2143978\/tests-porteurs-recherche-patients\" target=\"_blank\" rel=\"noopener\">Maladies rares&nbsp;: G\u00e9nome Qu\u00e9bec accorde plus de 800&nbsp;000&nbsp;$ \u00e0 deux chercheurs | Radio-Canada<\/a><\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h4 class=\"wp-block-heading has-secondary-color has-text-color has-link-color wp-elements-b129ffc608e0f72b1ad711a9751a3e33\">Regional initiative<\/h4>\n\n\n\n<div class=\"block-accordions-group theme-block theme-block--innerblock aligndefault\">\n    <span class=\"theme-block__label\">Accordions<\/span>\n  \n    \n<div class=\"block-accordion  theme-block theme-block--innerblock aligndefault\">\n    <span class=\"theme-block__label\">Accordion<\/span>\n    <h3 class=\"block-accordion__title\">CORAMH<\/h3>\n    \n\n<p><strong>About CORAMH<\/strong>: The <a href=\"https:\/\/coramh.org\/\" target=\"_blank\" data-type=\"link\" data-id=\"https:\/\/coramh.org\/\" rel=\"noreferrer noopener\">Corporation for Research and Action on Hereditary Diseases (CORAMH)<\/a> is a regional non-profit organization that has been working in the field of hereditary diseases in the Saguenay-Lac-Saint-Jean region (Quebec, Canada) since 1980.<\/p>\n\n\n\n<p><strong>Goal<\/strong>: [\u2026] To provide the region (of Saguenay-Lac-Saint-Jean) with an independent organisation whose objective would be to find solutions to the health problems linked to the presence of hereditary diseases in the region.<\/p>\n\n\n<\/div>\n\n                    \n\n\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Rare diseases: genomics at the service of patients Rare diseases affect almost 700,000 people. Of these, 30% of young patients die before the age of 5. To find out more,&hellip;<\/p>\n","protected":false},"author":2,"featured_media":30288,"parent":23709,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"16517,16483,16638,16701,16591,16689","_relevanssi_noindex_reason":"","footnotes":""},"class_list":["post-30088","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/genomequebec.wp.vortexdev.com\/en\/wp-json\/wp\/v2\/pages\/30088","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genomequebec.wp.vortexdev.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/genomequebec.wp.vortexdev.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/genomequebec.wp.vortexdev.com\/en\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/genomequebec.wp.vortexdev.com\/en\/wp-json\/wp\/v2\/comments?post=30088"}],"version-history":[{"count":7,"href":"https:\/\/genomequebec.wp.vortexdev.com\/en\/wp-json\/wp\/v2\/pages\/30088\/revisions"}],"predecessor-version":[{"id":33300,"href":"https:\/\/genomequebec.wp.vortexdev.com\/en\/wp-json\/wp\/v2\/pages\/30088\/revisions\/33300"}],"up":[{"embeddable":true,"href":"https:\/\/genomequebec.wp.vortexdev.com\/en\/wp-json\/wp\/v2\/pages\/23709"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/genomequebec.wp.vortexdev.com\/en\/wp-json\/wp\/v2\/media\/30288"}],"wp:attachment":[{"href":"https:\/\/genomequebec.wp.vortexdev.com\/en\/wp-json\/wp\/v2\/media?parent=30088"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}