La schizophr\u00e9nie et l\u2019autisme sont des maladies graves du cerveau qui entra\u00eenent d\u2019\u00e9normes souffrances humaines et des co\u00fbts de sant\u00e9 \u00e9lev\u00e9s. Malgr\u00e9 des d\u00e9cennies de recherche, les causes de ces maladies demeurent encore en grande partie inconnues. On croit cependant que ces deux maladies sont li\u00e9es \u00e0 des facteurs g\u00e9n\u00e9tiques (h\u00e9r\u00e9ditaires) et peuvent par cons\u00e9quent \u00eatre \u00e9tudi\u00e9es \u00e0 l\u2019aide de la g\u00e9nomique.<\/p>\n
M. Guy A. Rouleau, autorit\u00e9 en mati\u00e8re de fondement g\u00e9n\u00e9tique des tumeurs c\u00e9r\u00e9brales humaines, des maladies neurod\u00e9g\u00e9n\u00e9ratives humaines et des maladies psychiatriques \u00e0 l\u2019Universit\u00e9 McGill, et M. Pierre Drapeau, directeur du Centre de recherche en neurosciences de McGill sont les directeurs du projet Identification et caract\u00e9risation des g\u00e8nes impliqu\u00e9s dans les maladies c\u00e9r\u00e9brales courantes du d\u00e9veloppement. MM. Rouleau et Drapeau croient que les g\u00e8nes qui causent la schizophr\u00e9nie et l\u2019autisme subissent de nombreuses mutations et tendent \u00e0 \u00eatre situ\u00e9s dans les synapses, les jonctions entre les cellules nerveuses (et les autres cellules) dans le cerveau o\u00f9 l\u2019information est communiqu\u00e9e et trait\u00e9e. Autrement dit, des mutations dans des g\u00e8nes pr\u00e9cis des synapses peuvent provoquer ces maladies.<\/p>\n
En se fondant sur un ensemble de 5000 \u00e9chantillons sanguins recueillis aupr\u00e8s d\u2019individus atteints de schizophr\u00e9nie et d\u2019autisme (et des membres de leur famille), l\u2019\u00e9quipe de recherche analysera 1000 g\u00e8nes synaptiques de 276 patients. Cette analyse permettra d\u2019effectuer le premier examen chimique direct des g\u00e8nes dans le codage humain de synapses particuliers et, par la suite, de valider les effets biologiques des mutations li\u00e9es aux maladies de ces g\u00e8nes synaptiques dans diff\u00e9rents syst\u00e8mes de mod\u00e8les animaux.<\/p>\n
L\u2019\u00e9quipe du projet pr\u00e9voit identifier de 10 \u00e0 20 g\u00e8nes qui causent directement la schizophr\u00e9nie ou l\u2019autisme ou accroissent la susceptibilit\u00e9 \u00e0 ces maladies. Ces r\u00e9sultats ouvriront ensuite la voie \u00e0 l\u2019\u00e9laboration de nouveaux tests diagnostiques, \u00e0 de nouveaux traitements et \u00e0 une meilleure gestion clinique des patients, ce qui servira \u00e0 la fois aux d\u00e9cideurs en sant\u00e9 et aux communaut\u00e9s de recherche en g\u00e9n\u00e9tique et en neurosciences partout dans le monde.<\/p>\n
(En anglais seulement)<\/p>\n
Integrated GE3<\/sup>LS Research: <\/strong>Considerations of providing individual genetic research results to participants: An Ethical Analysis This integrated GE3<\/sup>LS research study aims to conduct a benefit-to-risk assessment in order to balance the potential positive vs negative consequences to participants, while maintaining the integrity and feasibility of conducting genetic research studies. To do this, researchers will carry out a review and analysis of (inter)national guidelines, as well as an empirical study of the attitudes and needs of study participants. Findings of these analyses may help inform the development of an ethical framework to assist investigators in providing research participants with the results of neurogenetics studies. <\/p>\n We expect to find major challenges in this context, given both the high expectations surrounding genetic research and the vulnerable state of some patients\/research participants. We also expect that healthcare costs will constitute an important contextual issue, especially in the context of public healthcare systems where issues of resource allocation figure prominently in the delivery of innovative care in neurodevelopmental diseases.<\/p>\n <\/p>\n <\/p>\n","protected":false},"excerpt":{"rendered":" La schizophr\u00e9nie et l\u2019autisme sont des maladies graves du cerveau qui entra\u00eenent d\u2019\u00e9normes souffrances humaines et des co\u00fbts de sant\u00e9 \u00e9lev\u00e9s. Malgr\u00e9 des d\u00e9cennies de recherche, les causes de ces maladies demeurent encore en grande partie inconnues. On croit cependant que ces deux maladies sont li\u00e9es \u00e0 des facteurs g\u00e9n\u00e9tiques (h\u00e9r\u00e9ditaires) et peuvent par cons\u00e9quent […]<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}}},"project-categories":[93],"genome-competitions":[238],"project-sector":[],"genome_centres":[104],"class_list":["post-10542","project","type-project","status-publish","hentry","project-categories-large-scale-science-fr","genome-competitions-concours-iii","genome_centres-genome-quebec-fr"],"acf":[],"yoast_head":"\n
\nGE3<\/sup>LS Project Leaders: <\/strong>B\u00e9atrice Godard and B\u00e9atrice Launay Universit\u00e9 de Montr\u00e9al
\nSummary<\/u>
\nGenetics studies are becoming increasingly prevalent, leading to a growing body of information on disease susceptibility with the potential to improve health care. Much of these data are characterized as exploratory, with little or no clinical utility. However, there is an international trend for research participants to be permitted access to their personal data if they so choose. Stakeholders are consequently confronting the issue of whether and how research participants might receive their individual results. Yet, few empirical data exist on the attitudes and needs of research participants in the context of research on neurodevelopmental diseases.<\/p>\n