{"id":12076,"date":"2015-12-26T10:04:00","date_gmt":"2015-12-26T10:04:00","guid":{"rendered":"https:\/\/genomecanada.ca\/drupal\/news_release\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/"},"modified":"2015-12-26T10:04:00","modified_gmt":"2015-12-26T10:04:00","slug":"sickkids-researchers-make-great-strides-towards-cracking-autism-code-2","status":"publish","type":"post","link":"https:\/\/genomecanada.ca\/fr\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/","title":{"rendered":"SickKids researchers make great strides towards cracking the autism code"},"content":{"rendered":"<p>Recent&nbsp;advances&nbsp;in&nbsp;genome&nbsp;sequencing&nbsp;technology&nbsp;havefacilitated&nbsp;rapid&nbsp;identification&nbsp;of&nbsp;genetic&nbsp;alterations&nbsp;in&nbsp;genes&nbsp;associated&nbsp;withAutism&nbsp;Spectrum&nbsp;Disorder&nbsp;(ASD).&nbsp;The&nbsp;universal&nbsp;challenge&nbsp;in&nbsp;the&nbsp;field&nbsp;ofgenetics has&nbsp;been&nbsp;to&nbsp;determine&nbsp;whether&nbsp;these&nbsp;mutations&nbsp;will&nbsp;result&nbsp;in&nbsp;autism.<\/p>\n<p>In&nbsp;a&nbsp;study&nbsp;to&nbsp;be&nbsp;published&nbsp;in&nbsp;the&nbsp;May&nbsp;25th&nbsp;advanced&nbsp;online&nbsp;edition&nbsp;NatureGenetics,&nbsp;researchers&nbsp;at&nbsp;The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children&nbsp;(SickKids)&nbsp;andUniversity&nbsp;of&nbsp;Toronto&nbsp;have&nbsp;essentially unraveled&nbsp;the&nbsp;autism&nbsp;code,&nbsp;by&nbsp;creating&nbsp;a\u201cgenetic&nbsp;formula\u201d&nbsp;that&nbsp;will&nbsp;enable&nbsp;clinicians to&nbsp;identify genetic&nbsp;mutations&nbsp;thathave&nbsp;the&nbsp;highest&nbsp;and&nbsp;lowest&nbsp;likelihood&nbsp;of&nbsp;causing&nbsp;ASD.<\/p>\n<p>ASD,&nbsp;which&nbsp;has&nbsp;recently&nbsp;been&nbsp;reported&nbsp;to&nbsp;affect&nbsp;one&nbsp;in&nbsp;every&nbsp;68&nbsp;children,&nbsp;is aneurodevelopmental&nbsp;disorder&nbsp;characterized&nbsp;by&nbsp;impairments&nbsp;in&nbsp;socialinteraction&nbsp;and&nbsp;communication,&nbsp;as well&nbsp;as&nbsp;repetitive&nbsp;and&nbsp;restrictive&nbsp;behaviors.It&nbsp;is well&nbsp;established&nbsp;that&nbsp;genetics&nbsp;has a&nbsp;major&nbsp;role&nbsp;in&nbsp;the&nbsp;development&nbsp;ofautism,&nbsp;which&nbsp;in&nbsp;itself&nbsp;represents a&nbsp;collection&nbsp;of&nbsp;clinically&nbsp;similar&nbsp;disorders.<\/p>\n<p>\u201cThere&nbsp;has been&nbsp;incredible&nbsp;progress&nbsp;finding&nbsp;genetic&nbsp;answers,&nbsp;but&nbsp;these&nbsp;areoften&nbsp;accompanied&nbsp;by puzzling&nbsp;clinical&nbsp;observations.&nbsp;Previous&nbsp;research&nbsp;hasrevealed&nbsp;many&nbsp;conundrums&nbsp;such&nbsp;as&nbsp;mutation&nbsp;carriers&nbsp;who&nbsp;do&nbsp;not&nbsp;exhibitsymptoms&nbsp;of&nbsp;autism,\u201d&nbsp;says Dr.&nbsp;Stephen&nbsp;Scherer,&nbsp;principal&nbsp;author&nbsp;of&nbsp;the&nbsp;studyand&nbsp;senior&nbsp;scientist&nbsp;and&nbsp;director&nbsp;of&nbsp;The&nbsp;Centre&nbsp;for&nbsp;Applied&nbsp;Genomics&nbsp;atSickKids&nbsp;and&nbsp;the&nbsp;University&nbsp;of&nbsp;Toronto&nbsp;McLaughlin&nbsp;Centre.&nbsp;\u201cIn&nbsp;our&nbsp;new&nbsp;studywe\u2019ve&nbsp;finally&nbsp;discovered&nbsp;a&nbsp;unifying&nbsp;set&nbsp;of&nbsp;characteristics&nbsp;in&nbsp;the&nbsp;DNA&nbsp;that&nbsp;we&nbsp;canweave&nbsp;into&nbsp;a&nbsp;\u2018genetic&nbsp;formula\u2019&nbsp;that&nbsp;helps us&nbsp;calculate&nbsp;which&nbsp;genetic&nbsp;mutationshave&nbsp;the&nbsp;highest&nbsp;probability&nbsp;of&nbsp;causing&nbsp;autism,&nbsp;and&nbsp;equally&nbsp;important,&nbsp;whichalterations do&nbsp;not&nbsp;have&nbsp;a&nbsp;role.\u201d<\/p>\n<p>Dr.&nbsp;Mohammed&nbsp;Uddin,&nbsp;a&nbsp;postdoctoral&nbsp;fellow&nbsp;on&nbsp;Scherer\u2019s&nbsp;team&nbsp;determinedthat&nbsp;the&nbsp;key&nbsp;to&nbsp;solving&nbsp;the&nbsp;enigma&nbsp;of&nbsp;the&nbsp;autism&nbsp;mutation&nbsp;code,&nbsp;resides&nbsp;inrecognizing&nbsp;small&nbsp;segments&nbsp;(called exons)&nbsp;of&nbsp;genes&nbsp;that&nbsp;are&nbsp;both&nbsp;\u201chighlyconserved\u201d&nbsp;in&nbsp;human&nbsp;evolution&nbsp;and&nbsp;\u201cturned&nbsp;on\u201d&nbsp;&nbsp;during&nbsp;early&nbsp;braindevelopment.<\/p>\n<p>\u201cThe&nbsp;timing&nbsp;of&nbsp;this gene&nbsp;activation&nbsp;is&nbsp;an&nbsp;important&nbsp;finding.&nbsp;The&nbsp;fact&nbsp;that&nbsp;thesegenes&nbsp;could&nbsp;be&nbsp;turned&nbsp;on&nbsp;prenatally,&nbsp;gives us a&nbsp;clue&nbsp;as to&nbsp;when&nbsp;autism&nbsp;couldstart&nbsp;to&nbsp;develop,\u201d&nbsp;says&nbsp;Scherer.<\/p>\n<p>Metaphorically,&nbsp;genes&nbsp;are&nbsp;often&nbsp;compared&nbsp;to&nbsp;an&nbsp;orchestra,&nbsp;with&nbsp;the&nbsp;mostimportant&nbsp;exons&nbsp;representing&nbsp;instruments&nbsp;like&nbsp;the&nbsp;violin&nbsp;that&nbsp;crescendo&nbsp;(turnon,&nbsp;or&nbsp;express)&nbsp;at&nbsp;critical&nbsp;times&nbsp;in&nbsp;the developmental&nbsp;symphony.<\/p>\n<p>The&nbsp;Toronto&nbsp;team&nbsp;identified&nbsp;almost&nbsp;four&nbsp;thousand&nbsp;such&nbsp;brain&nbsp;exons&nbsp;in&nbsp;morethan&nbsp;seventeen&nbsp;hundred&nbsp;different&nbsp;genes.&nbsp;In&nbsp;addition,&nbsp;the&nbsp;one&nbsp;hundred&nbsp;or&nbsp;soknown&nbsp;autism&nbsp;susceptibility&nbsp;genes&nbsp;already&nbsp;used&nbsp;for&nbsp;diagnostic&nbsp;testing&nbsp;werefurther&nbsp;validated&nbsp;by&nbsp;the&nbsp;new&nbsp;approach,&nbsp;as were&nbsp;genes&nbsp;involved&nbsp;in&nbsp;otherneurodevelopmental&nbsp;conditions&nbsp;such&nbsp;as&nbsp;intellectual&nbsp;disability,&nbsp;which&nbsp;is&nbsp;often&nbsp;afeature&nbsp;of&nbsp;ASD.<\/p>\n<p>Scherer&nbsp;predicts&nbsp;that&nbsp;&nbsp;many&nbsp;of&nbsp;the&nbsp;novel&nbsp;genes&nbsp;discovered&nbsp;by&nbsp;his group&nbsp;thatbear&nbsp;these&nbsp;newly defined&nbsp;unique&nbsp;characteristics,&nbsp;will&nbsp;eventually&nbsp;be&nbsp;proven&nbsp;byother&nbsp;means to&nbsp;be&nbsp;involved&nbsp;in&nbsp;autism&nbsp;or&nbsp;intellectual&nbsp;disability,&nbsp;or&nbsp;other&nbsp;relatedmedical&nbsp;conditions&nbsp;associated&nbsp;with&nbsp;brain&nbsp;development&nbsp;or&nbsp;cognition.<\/p>\n<p>\u201cThis groundbreaking&nbsp;work&nbsp;will&nbsp;have&nbsp;immediate&nbsp;impact&nbsp;on&nbsp;efforts&nbsp;to&nbsp;developmore&nbsp;accurate genetic&nbsp;diagnostic&nbsp;tests&nbsp;aimed&nbsp;at&nbsp;improving&nbsp;earlier&nbsp;detectionand&nbsp;clinical&nbsp;decisions to&nbsp;begin&nbsp;intervention\u201d&nbsp;says Dr.&nbsp;Robert&nbsp;Ring,&nbsp;ChiefScientific&nbsp;Officer&nbsp;of&nbsp;Autism&nbsp;Speaks.&nbsp;\u201cImprovements&nbsp;in&nbsp;our&nbsp;understanding&nbsp;ofmechanisms&nbsp;involved&nbsp;in&nbsp;brain&nbsp;expression&nbsp;of&nbsp;disease&nbsp;mutations&nbsp;will&nbsp;also&nbsp;helpto&nbsp;reveal&nbsp;new&nbsp;biological&nbsp;space&nbsp;worth&nbsp;targeting&nbsp;for&nbsp;the&nbsp;development&nbsp;ofmedicines&nbsp;that&nbsp;benefit&nbsp;individuals&nbsp;with&nbsp;autism&nbsp;and&nbsp;related&nbsp;neurodevelopmentaldisorders.\u201d<\/p>\n<p>This&nbsp;research&nbsp;was&nbsp;supported&nbsp;by&nbsp;grants&nbsp;from&nbsp;the&nbsp;University&nbsp;of&nbsp;TorontoMcLaughlin&nbsp;Centre, NeuroDevNet, Genome&nbsp;Canada&nbsp;and&nbsp;the&nbsp;OntarioGenomics&nbsp;Institute,&nbsp;the&nbsp;Canadian&nbsp;Institutes&nbsp;for Health&nbsp;Research&nbsp;(CIHR),&nbsp;theCanadian&nbsp;Institute&nbsp;for&nbsp;Advanced&nbsp;Research,&nbsp;the&nbsp;Canada&nbsp;Foundation&nbsp;forInnovation,&nbsp;the&nbsp;government&nbsp;of&nbsp;Ontario,&nbsp;the&nbsp;Ontario&nbsp;Brain&nbsp;Institute,&nbsp;AutismSpeaks&nbsp;and&nbsp;SickKids&nbsp;Foundation.<\/p>\n<p>This&nbsp;research&nbsp;has&nbsp;been&nbsp;developed&nbsp;in&nbsp;close&nbsp;collaboration&nbsp;with&nbsp;the&nbsp;IndustryPartnerships&nbsp;and&nbsp;Commercialization&nbsp;Office&nbsp;at&nbsp;SickKids.&nbsp;The&nbsp;technologymentioned&nbsp;above&nbsp;is&nbsp;available&nbsp;for licensing.<\/p>\n<p>About&nbsp;The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children<\/p>\n<p>The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children&nbsp;(SickKids)&nbsp;is&nbsp;recognized&nbsp;as&nbsp;one&nbsp;of&nbsp;the&nbsp;world\u2019sforemost paediatric&nbsp;health-care&nbsp;institutions&nbsp;and&nbsp;is&nbsp;Canada\u2019s&nbsp;leading&nbsp;centrededicated&nbsp;to&nbsp;advancing&nbsp;children\u2019s health&nbsp;through&nbsp;the&nbsp;integration&nbsp;of&nbsp;patient&nbsp;care,research&nbsp;and&nbsp;education.&nbsp;Founded&nbsp;in&nbsp;1875&nbsp;and&nbsp;affiliated&nbsp;with&nbsp;the&nbsp;University&nbsp;ofToronto,&nbsp;SickKids&nbsp;is&nbsp;one&nbsp;of&nbsp;Canada\u2019s&nbsp;most&nbsp;research-&nbsp;intensive&nbsp;hospitals&nbsp;andhas generated&nbsp;discoveries that&nbsp;have&nbsp;helped&nbsp;children&nbsp;globally.&nbsp;&nbsp;Its&nbsp;mission&nbsp;is&nbsp;toprovide&nbsp;the&nbsp;best&nbsp;in&nbsp;complex&nbsp;and&nbsp;specialized&nbsp;family-centred&nbsp;care;&nbsp;pioneerscientific&nbsp;and&nbsp;clinical&nbsp;advancements;&nbsp;share&nbsp;expertise;&nbsp;foster&nbsp;an&nbsp;academicenvironment&nbsp;that&nbsp;nurtures&nbsp;health-care professionals;&nbsp;and&nbsp;champion&nbsp;anaccessible,&nbsp;comprehensive&nbsp;and&nbsp;sustainable&nbsp;child&nbsp;health&nbsp;system.&nbsp;SickKids&nbsp;is proud&nbsp;of&nbsp;its vision&nbsp;for&nbsp;Healthier&nbsp;Children.&nbsp;A&nbsp;Better&nbsp;World.&nbsp;For&nbsp;more&nbsp;information,please&nbsp;visit&nbsp;www.sickkids.ca<\/p>\n<p>For&nbsp;more&nbsp;information,&nbsp;please&nbsp;contact:<\/p>\n<p>Caitlin&nbsp;McNamee-Lamb<\/p>\n<p>The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children<\/p>\n<p>416-813-7654,&nbsp;ext. 201436<\/p>\n<p>caitlin.mcnamee-lamb@sickkids.ca<\/p>\n<p>Matet&nbsp;Nebres<\/p>\n<p>The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children<\/p>\n<p>416-813-6380<\/p>\n<p>matet.nebres@sickkids.ca<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Recent&nbsp;advances&nbsp;in&nbsp;genome&nbsp;sequencing&nbsp;technology&nbsp;havefacilitated&nbsp;rapid&nbsp;identification&nbsp;of&nbsp;genetic&nbsp;alterations&nbsp;in&nbsp;genes&nbsp;associated&nbsp;withAutism&nbsp;Spectrum&nbsp;Disorder&nbsp;(ASD).&nbsp;The&nbsp;universal&nbsp;challenge&nbsp;in&nbsp;the&nbsp;field&nbsp;ofgenetics has&nbsp;been&nbsp;to&nbsp;determine&nbsp;whether&nbsp;these&nbsp;mutations&nbsp;will&nbsp;result&nbsp;in&nbsp;autism. In&nbsp;a&nbsp;study&nbsp;to&nbsp;be&nbsp;published&nbsp;in&nbsp;the&nbsp;May&nbsp;25th&nbsp;advanced&nbsp;online&nbsp;edition&nbsp;NatureGenetics,&nbsp;researchers&nbsp;at&nbsp;The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children&nbsp;(SickKids)&nbsp;andUniversity&nbsp;of&nbsp;Toronto&nbsp;have&nbsp;essentially unraveled&nbsp;the&nbsp;autism&nbsp;code,&nbsp;by&nbsp;creating&nbsp;a\u201cgenetic&nbsp;formula\u201d&nbsp;that&nbsp;will&nbsp;enable&nbsp;clinicians to&nbsp;identify genetic&nbsp;mutations&nbsp;thathave&nbsp;the&nbsp;highest&nbsp;and&nbsp;lowest&nbsp;likelihood&nbsp;of&nbsp;causing&nbsp;ASD. ASD,&nbsp;which&nbsp;has&nbsp;recently&nbsp;been&nbsp;reported&nbsp;to&nbsp;affect&nbsp;one&nbsp;in&nbsp;every&nbsp;68&nbsp;children,&nbsp;is aneurodevelopmental&nbsp;disorder&nbsp;characterized&nbsp;by&nbsp;impairments&nbsp;in&nbsp;socialinteraction&nbsp;and&nbsp;communication,&nbsp;as well&nbsp;as&nbsp;repetitive&nbsp;and&nbsp;restrictive&nbsp;behaviors.It&nbsp;is well&nbsp;established&nbsp;that&nbsp;genetics&nbsp;has a&nbsp;major&nbsp;role&nbsp;in&nbsp;the&nbsp;development&nbsp;ofautism,&nbsp;which&nbsp;in&nbsp;itself&nbsp;represents a&nbsp;collection&nbsp;of&nbsp;clinically&nbsp;similar&nbsp;disorders. \u201cThere&nbsp;has been&nbsp;incredible&nbsp;progress&nbsp;finding&nbsp;genetic&nbsp;answers,&nbsp;but&nbsp;these&nbsp;areoften&nbsp;accompanied&nbsp;by puzzling&nbsp;clinical&nbsp;observations.&nbsp;Previous&nbsp;research&nbsp;hasrevealed&nbsp;many&nbsp;conundrums&nbsp;such&nbsp;as&nbsp;mutation&nbsp;carriers&nbsp;who&nbsp;do&nbsp;not&nbsp;exhibitsymptoms&nbsp;of&nbsp;autism,\u201d&nbsp;says Dr.&nbsp;Stephen&nbsp;Scherer,&nbsp;principal&nbsp;author&nbsp;of&nbsp;the&nbsp;studyand&nbsp;senior&nbsp;scientist&nbsp;and&nbsp;director&nbsp;of&nbsp;The&nbsp;Centre&nbsp;for&nbsp;Applied&nbsp;Genomics&nbsp;atSickKids&nbsp;and&nbsp;the&nbsp;University&nbsp;of&nbsp;Toronto&nbsp;McLaughlin&nbsp;Centre.&nbsp;\u201cIn&nbsp;our&nbsp;new&nbsp;studywe\u2019ve&nbsp;finally&nbsp;discovered&nbsp;a&nbsp;unifying&nbsp;set&nbsp;of&nbsp;characteristics&nbsp;in&nbsp;the&nbsp;DNA&nbsp;that&nbsp;we&nbsp;canweave&nbsp;into&nbsp;a&nbsp;\u2018genetic&nbsp;formula\u2019&nbsp;that&nbsp;helps us&nbsp;calculate&nbsp;which&nbsp;genetic&nbsp;mutationshave&nbsp;the&nbsp;highest&nbsp;probability&nbsp;of&nbsp;causing&nbsp;autism,&nbsp;and&nbsp;equally&nbsp;important,&nbsp;whichalterations do&nbsp;not&nbsp;have&nbsp;a&nbsp;role.\u201d Dr.&nbsp;Mohammed&nbsp;Uddin,&nbsp;a&nbsp;postdoctoral&nbsp;fellow&nbsp;on&nbsp;Scherer\u2019s&nbsp;team&nbsp;determinedthat&nbsp;the&nbsp;key&nbsp;to&nbsp;solving&nbsp;the&nbsp;enigma&nbsp;of&nbsp;the&nbsp;autism&nbsp;mutation&nbsp;code,&nbsp;resides&nbsp;inrecognizing&nbsp;small&nbsp;segments&nbsp;(called exons)&nbsp;of&nbsp;genes&nbsp;that&nbsp;are&nbsp;both&nbsp;\u201chighlyconserved\u201d&nbsp;in&nbsp;human&nbsp;evolution&nbsp;and&nbsp;\u201cturned&nbsp;on\u201d&nbsp;&nbsp;during&nbsp;early&nbsp;braindevelopment. \u201cThe&nbsp;timing&nbsp;of&nbsp;this gene&nbsp;activation&nbsp;is&nbsp;an&nbsp;important&nbsp;finding.&nbsp;The&nbsp;fact&nbsp;that&nbsp;thesegenes&nbsp;could&nbsp;be&nbsp;turned&nbsp;on&nbsp;prenatally,&nbsp;gives us a&nbsp;clue&nbsp;as to&nbsp;when&nbsp;autism&nbsp;couldstart&nbsp;to&nbsp;develop,\u201d&nbsp;says&nbsp;Scherer. Metaphorically,&nbsp;genes&nbsp;are&nbsp;often&nbsp;compared&nbsp;to&nbsp;an&nbsp;orchestra,&nbsp;with&nbsp;the&nbsp;mostimportant&nbsp;exons&nbsp;representing&nbsp;instruments&nbsp;like&nbsp;the&nbsp;violin&nbsp;that&nbsp;crescendo&nbsp;(turnon,&nbsp;or&nbsp;express)&nbsp;at&nbsp;critical&nbsp;times&nbsp;in&nbsp;the developmental&nbsp;symphony. The&nbsp;Toronto&nbsp;team&nbsp;identified&nbsp;almost&nbsp;four&nbsp;thousand&nbsp;such&nbsp;brain&nbsp;exons&nbsp;in&nbsp;morethan&nbsp;seventeen&nbsp;hundred&nbsp;different&nbsp;genes.&nbsp;In&nbsp;addition,&nbsp;the&nbsp;one&nbsp;hundred&nbsp;or&nbsp;soknown&nbsp;autism&nbsp;susceptibility&nbsp;genes&nbsp;already&nbsp;used&nbsp;for&nbsp;diagnostic&nbsp;testing&nbsp;werefurther&nbsp;validated&nbsp;by&nbsp;the&nbsp;new&nbsp;approach,&nbsp;as were&nbsp;genes&nbsp;involved&nbsp;in&nbsp;otherneurodevelopmental&nbsp;conditions&nbsp;such&nbsp;as&nbsp;intellectual&nbsp;disability,&nbsp;which&nbsp;is&nbsp;often&nbsp;afeature&nbsp;of&nbsp;ASD. Scherer&nbsp;predicts&nbsp;that&nbsp;&nbsp;many&nbsp;of&nbsp;the&nbsp;novel&nbsp;genes&nbsp;discovered&nbsp;by&nbsp;his group&nbsp;thatbear&nbsp;these&nbsp;newly defined&nbsp;unique&nbsp;characteristics,&nbsp;will&nbsp;eventually&nbsp;be&nbsp;proven&nbsp;byother&nbsp;means to&nbsp;be&nbsp;involved&nbsp;in&nbsp;autism&nbsp;or&nbsp;intellectual&nbsp;disability,&nbsp;or&nbsp;other&nbsp;relatedmedical&nbsp;conditions&nbsp;associated&nbsp;with&nbsp;brain&nbsp;development&nbsp;or&nbsp;cognition. \u201cThis groundbreaking&nbsp;work&nbsp;will&nbsp;have&nbsp;immediate&nbsp;impact&nbsp;on&nbsp;efforts&nbsp;to&nbsp;developmore&nbsp;accurate genetic&nbsp;diagnostic&nbsp;tests&nbsp;aimed&nbsp;at&nbsp;improving&nbsp;earlier&nbsp;detectionand&nbsp;clinical&nbsp;decisions to&nbsp;begin&nbsp;intervention\u201d&nbsp;says Dr.&nbsp;Robert&nbsp;Ring,&nbsp;ChiefScientific&nbsp;Officer&nbsp;of&nbsp;Autism&nbsp;Speaks.&nbsp;\u201cImprovements&nbsp;in&nbsp;our&nbsp;understanding&nbsp;ofmechanisms&nbsp;involved&nbsp;in&nbsp;brain&nbsp;expression&nbsp;of&nbsp;disease&nbsp;mutations&nbsp;will&nbsp;also&nbsp;helpto&nbsp;reveal&nbsp;new&nbsp;biological&nbsp;space&nbsp;worth&nbsp;targeting&nbsp;for&nbsp;the&nbsp;development&nbsp;ofmedicines&nbsp;that&nbsp;benefit&nbsp;individuals&nbsp;with&nbsp;autism&nbsp;and&nbsp;related&nbsp;neurodevelopmentaldisorders.\u201d This&nbsp;research&nbsp;was&nbsp;supported&nbsp;by&nbsp;grants&nbsp;from&nbsp;the&nbsp;University&nbsp;of&nbsp;TorontoMcLaughlin&nbsp;Centre, NeuroDevNet, Genome&nbsp;Canada&nbsp;and&nbsp;the&nbsp;OntarioGenomics&nbsp;Institute,&nbsp;the&nbsp;Canadian&nbsp;Institutes&nbsp;for Health&nbsp;Research&nbsp;(CIHR),&nbsp;theCanadian&nbsp;Institute&nbsp;for&nbsp;Advanced&nbsp;Research,&nbsp;the&nbsp;Canada&nbsp;Foundation&nbsp;forInnovation,&nbsp;the&nbsp;government&nbsp;of&nbsp;Ontario,&nbsp;the&nbsp;Ontario&nbsp;Brain&nbsp;Institute,&nbsp;AutismSpeaks&nbsp;and&nbsp;SickKids&nbsp;Foundation. This&nbsp;research&nbsp;has&nbsp;been&nbsp;developed&nbsp;in&nbsp;close&nbsp;collaboration&nbsp;with&nbsp;the&nbsp;IndustryPartnerships&nbsp;and&nbsp;Commercialization&nbsp;Office&nbsp;at&nbsp;SickKids.&nbsp;The&nbsp;technologymentioned&nbsp;above&nbsp;is&nbsp;available&nbsp;for licensing. About&nbsp;The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children&nbsp;(SickKids)&nbsp;is&nbsp;recognized&nbsp;as&nbsp;one&nbsp;of&nbsp;the&nbsp;world\u2019sforemost paediatric&nbsp;health-care&nbsp;institutions&nbsp;and&nbsp;is&nbsp;Canada\u2019s&nbsp;leading&nbsp;centrededicated&nbsp;to&nbsp;advancing&nbsp;children\u2019s health&nbsp;through&nbsp;the&nbsp;integration&nbsp;of&nbsp;patient&nbsp;care,research&nbsp;and&nbsp;education.&nbsp;Founded&nbsp;in&nbsp;1875&nbsp;and&nbsp;affiliated&nbsp;with&nbsp;the&nbsp;University&nbsp;ofToronto,&nbsp;SickKids&nbsp;is&nbsp;one&nbsp;of&nbsp;Canada\u2019s&nbsp;most&nbsp;research-&nbsp;intensive&nbsp;hospitals&nbsp;andhas generated&nbsp;discoveries that&nbsp;have&nbsp;helped&nbsp;children&nbsp;globally.&nbsp;&nbsp;Its&nbsp;mission&nbsp;is&nbsp;toprovide&nbsp;the&nbsp;best&nbsp;in&nbsp;complex&nbsp;and&nbsp;specialized&nbsp;family-centred&nbsp;care;&nbsp;pioneerscientific&nbsp;and&nbsp;clinical&nbsp;advancements;&nbsp;share&nbsp;expertise;&nbsp;foster&nbsp;an&nbsp;academicenvironment&nbsp;that&nbsp;nurtures&nbsp;health-care professionals;&nbsp;and&nbsp;champion&nbsp;anaccessible,&nbsp;comprehensive&nbsp;and&nbsp;sustainable&nbsp;child&nbsp;health&nbsp;system.&nbsp;SickKids&nbsp;is proud&nbsp;of&nbsp;its vision&nbsp;for&nbsp;Healthier&nbsp;Children.&nbsp;A&nbsp;Better&nbsp;World.&nbsp;For&nbsp;more&nbsp;information,please&nbsp;visit&nbsp;www.sickkids.ca For&nbsp;more&nbsp;information,&nbsp;please&nbsp;contact: Caitlin&nbsp;McNamee-Lamb [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","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":""}},"footnotes":""},"categories":[127],"tags":[],"mission-categories":[],"class_list":["post-12076","post","type-post","status-publish","format-standard","hentry","category-news-fr"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>SickKids researchers make great strides towards cracking the autism code - GenomeCanada<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/genomecanada.ca\/fr\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"SickKids researchers make great strides towards cracking the autism code - GenomeCanada\" \/>\n<meta property=\"og:description\" content=\"Recent&nbsp;advances&nbsp;in&nbsp;genome&nbsp;sequencing&nbsp;technology&nbsp;havefacilitated&nbsp;rapid&nbsp;identification&nbsp;of&nbsp;genetic&nbsp;alterations&nbsp;in&nbsp;genes&nbsp;associated&nbsp;withAutism&nbsp;Spectrum&nbsp;Disorder&nbsp;(ASD).&nbsp;The&nbsp;universal&nbsp;challenge&nbsp;in&nbsp;the&nbsp;field&nbsp;ofgenetics has&nbsp;been&nbsp;to&nbsp;determine&nbsp;whether&nbsp;these&nbsp;mutations&nbsp;will&nbsp;result&nbsp;in&nbsp;autism. In&nbsp;a&nbsp;study&nbsp;to&nbsp;be&nbsp;published&nbsp;in&nbsp;the&nbsp;May&nbsp;25th&nbsp;advanced&nbsp;online&nbsp;edition&nbsp;NatureGenetics,&nbsp;researchers&nbsp;at&nbsp;The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children&nbsp;(SickKids)&nbsp;andUniversity&nbsp;of&nbsp;Toronto&nbsp;have&nbsp;essentially unraveled&nbsp;the&nbsp;autism&nbsp;code,&nbsp;by&nbsp;creating&nbsp;a\u201cgenetic&nbsp;formula\u201d&nbsp;that&nbsp;will&nbsp;enable&nbsp;clinicians to&nbsp;identify genetic&nbsp;mutations&nbsp;thathave&nbsp;the&nbsp;highest&nbsp;and&nbsp;lowest&nbsp;likelihood&nbsp;of&nbsp;causing&nbsp;ASD. ASD,&nbsp;which&nbsp;has&nbsp;recently&nbsp;been&nbsp;reported&nbsp;to&nbsp;affect&nbsp;one&nbsp;in&nbsp;every&nbsp;68&nbsp;children,&nbsp;is aneurodevelopmental&nbsp;disorder&nbsp;characterized&nbsp;by&nbsp;impairments&nbsp;in&nbsp;socialinteraction&nbsp;and&nbsp;communication,&nbsp;as well&nbsp;as&nbsp;repetitive&nbsp;and&nbsp;restrictive&nbsp;behaviors.It&nbsp;is well&nbsp;established&nbsp;that&nbsp;genetics&nbsp;has a&nbsp;major&nbsp;role&nbsp;in&nbsp;the&nbsp;development&nbsp;ofautism,&nbsp;which&nbsp;in&nbsp;itself&nbsp;represents a&nbsp;collection&nbsp;of&nbsp;clinically&nbsp;similar&nbsp;disorders. \u201cThere&nbsp;has been&nbsp;incredible&nbsp;progress&nbsp;finding&nbsp;genetic&nbsp;answers,&nbsp;but&nbsp;these&nbsp;areoften&nbsp;accompanied&nbsp;by puzzling&nbsp;clinical&nbsp;observations.&nbsp;Previous&nbsp;research&nbsp;hasrevealed&nbsp;many&nbsp;conundrums&nbsp;such&nbsp;as&nbsp;mutation&nbsp;carriers&nbsp;who&nbsp;do&nbsp;not&nbsp;exhibitsymptoms&nbsp;of&nbsp;autism,\u201d&nbsp;says Dr.&nbsp;Stephen&nbsp;Scherer,&nbsp;principal&nbsp;author&nbsp;of&nbsp;the&nbsp;studyand&nbsp;senior&nbsp;scientist&nbsp;and&nbsp;director&nbsp;of&nbsp;The&nbsp;Centre&nbsp;for&nbsp;Applied&nbsp;Genomics&nbsp;atSickKids&nbsp;and&nbsp;the&nbsp;University&nbsp;of&nbsp;Toronto&nbsp;McLaughlin&nbsp;Centre.&nbsp;\u201cIn&nbsp;our&nbsp;new&nbsp;studywe\u2019ve&nbsp;finally&nbsp;discovered&nbsp;a&nbsp;unifying&nbsp;set&nbsp;of&nbsp;characteristics&nbsp;in&nbsp;the&nbsp;DNA&nbsp;that&nbsp;we&nbsp;canweave&nbsp;into&nbsp;a&nbsp;\u2018genetic&nbsp;formula\u2019&nbsp;that&nbsp;helps us&nbsp;calculate&nbsp;which&nbsp;genetic&nbsp;mutationshave&nbsp;the&nbsp;highest&nbsp;probability&nbsp;of&nbsp;causing&nbsp;autism,&nbsp;and&nbsp;equally&nbsp;important,&nbsp;whichalterations do&nbsp;not&nbsp;have&nbsp;a&nbsp;role.\u201d Dr.&nbsp;Mohammed&nbsp;Uddin,&nbsp;a&nbsp;postdoctoral&nbsp;fellow&nbsp;on&nbsp;Scherer\u2019s&nbsp;team&nbsp;determinedthat&nbsp;the&nbsp;key&nbsp;to&nbsp;solving&nbsp;the&nbsp;enigma&nbsp;of&nbsp;the&nbsp;autism&nbsp;mutation&nbsp;code,&nbsp;resides&nbsp;inrecognizing&nbsp;small&nbsp;segments&nbsp;(called exons)&nbsp;of&nbsp;genes&nbsp;that&nbsp;are&nbsp;both&nbsp;\u201chighlyconserved\u201d&nbsp;in&nbsp;human&nbsp;evolution&nbsp;and&nbsp;\u201cturned&nbsp;on\u201d&nbsp;&nbsp;during&nbsp;early&nbsp;braindevelopment. \u201cThe&nbsp;timing&nbsp;of&nbsp;this gene&nbsp;activation&nbsp;is&nbsp;an&nbsp;important&nbsp;finding.&nbsp;The&nbsp;fact&nbsp;that&nbsp;thesegenes&nbsp;could&nbsp;be&nbsp;turned&nbsp;on&nbsp;prenatally,&nbsp;gives us a&nbsp;clue&nbsp;as to&nbsp;when&nbsp;autism&nbsp;couldstart&nbsp;to&nbsp;develop,\u201d&nbsp;says&nbsp;Scherer. Metaphorically,&nbsp;genes&nbsp;are&nbsp;often&nbsp;compared&nbsp;to&nbsp;an&nbsp;orchestra,&nbsp;with&nbsp;the&nbsp;mostimportant&nbsp;exons&nbsp;representing&nbsp;instruments&nbsp;like&nbsp;the&nbsp;violin&nbsp;that&nbsp;crescendo&nbsp;(turnon,&nbsp;or&nbsp;express)&nbsp;at&nbsp;critical&nbsp;times&nbsp;in&nbsp;the developmental&nbsp;symphony. The&nbsp;Toronto&nbsp;team&nbsp;identified&nbsp;almost&nbsp;four&nbsp;thousand&nbsp;such&nbsp;brain&nbsp;exons&nbsp;in&nbsp;morethan&nbsp;seventeen&nbsp;hundred&nbsp;different&nbsp;genes.&nbsp;In&nbsp;addition,&nbsp;the&nbsp;one&nbsp;hundred&nbsp;or&nbsp;soknown&nbsp;autism&nbsp;susceptibility&nbsp;genes&nbsp;already&nbsp;used&nbsp;for&nbsp;diagnostic&nbsp;testing&nbsp;werefurther&nbsp;validated&nbsp;by&nbsp;the&nbsp;new&nbsp;approach,&nbsp;as were&nbsp;genes&nbsp;involved&nbsp;in&nbsp;otherneurodevelopmental&nbsp;conditions&nbsp;such&nbsp;as&nbsp;intellectual&nbsp;disability,&nbsp;which&nbsp;is&nbsp;often&nbsp;afeature&nbsp;of&nbsp;ASD. Scherer&nbsp;predicts&nbsp;that&nbsp;&nbsp;many&nbsp;of&nbsp;the&nbsp;novel&nbsp;genes&nbsp;discovered&nbsp;by&nbsp;his group&nbsp;thatbear&nbsp;these&nbsp;newly defined&nbsp;unique&nbsp;characteristics,&nbsp;will&nbsp;eventually&nbsp;be&nbsp;proven&nbsp;byother&nbsp;means to&nbsp;be&nbsp;involved&nbsp;in&nbsp;autism&nbsp;or&nbsp;intellectual&nbsp;disability,&nbsp;or&nbsp;other&nbsp;relatedmedical&nbsp;conditions&nbsp;associated&nbsp;with&nbsp;brain&nbsp;development&nbsp;or&nbsp;cognition. \u201cThis groundbreaking&nbsp;work&nbsp;will&nbsp;have&nbsp;immediate&nbsp;impact&nbsp;on&nbsp;efforts&nbsp;to&nbsp;developmore&nbsp;accurate genetic&nbsp;diagnostic&nbsp;tests&nbsp;aimed&nbsp;at&nbsp;improving&nbsp;earlier&nbsp;detectionand&nbsp;clinical&nbsp;decisions to&nbsp;begin&nbsp;intervention\u201d&nbsp;says Dr.&nbsp;Robert&nbsp;Ring,&nbsp;ChiefScientific&nbsp;Officer&nbsp;of&nbsp;Autism&nbsp;Speaks.&nbsp;\u201cImprovements&nbsp;in&nbsp;our&nbsp;understanding&nbsp;ofmechanisms&nbsp;involved&nbsp;in&nbsp;brain&nbsp;expression&nbsp;of&nbsp;disease&nbsp;mutations&nbsp;will&nbsp;also&nbsp;helpto&nbsp;reveal&nbsp;new&nbsp;biological&nbsp;space&nbsp;worth&nbsp;targeting&nbsp;for&nbsp;the&nbsp;development&nbsp;ofmedicines&nbsp;that&nbsp;benefit&nbsp;individuals&nbsp;with&nbsp;autism&nbsp;and&nbsp;related&nbsp;neurodevelopmentaldisorders.\u201d This&nbsp;research&nbsp;was&nbsp;supported&nbsp;by&nbsp;grants&nbsp;from&nbsp;the&nbsp;University&nbsp;of&nbsp;TorontoMcLaughlin&nbsp;Centre, NeuroDevNet, Genome&nbsp;Canada&nbsp;and&nbsp;the&nbsp;OntarioGenomics&nbsp;Institute,&nbsp;the&nbsp;Canadian&nbsp;Institutes&nbsp;for Health&nbsp;Research&nbsp;(CIHR),&nbsp;theCanadian&nbsp;Institute&nbsp;for&nbsp;Advanced&nbsp;Research,&nbsp;the&nbsp;Canada&nbsp;Foundation&nbsp;forInnovation,&nbsp;the&nbsp;government&nbsp;of&nbsp;Ontario,&nbsp;the&nbsp;Ontario&nbsp;Brain&nbsp;Institute,&nbsp;AutismSpeaks&nbsp;and&nbsp;SickKids&nbsp;Foundation. This&nbsp;research&nbsp;has&nbsp;been&nbsp;developed&nbsp;in&nbsp;close&nbsp;collaboration&nbsp;with&nbsp;the&nbsp;IndustryPartnerships&nbsp;and&nbsp;Commercialization&nbsp;Office&nbsp;at&nbsp;SickKids.&nbsp;The&nbsp;technologymentioned&nbsp;above&nbsp;is&nbsp;available&nbsp;for licensing. About&nbsp;The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children&nbsp;(SickKids)&nbsp;is&nbsp;recognized&nbsp;as&nbsp;one&nbsp;of&nbsp;the&nbsp;world\u2019sforemost paediatric&nbsp;health-care&nbsp;institutions&nbsp;and&nbsp;is&nbsp;Canada\u2019s&nbsp;leading&nbsp;centrededicated&nbsp;to&nbsp;advancing&nbsp;children\u2019s health&nbsp;through&nbsp;the&nbsp;integration&nbsp;of&nbsp;patient&nbsp;care,research&nbsp;and&nbsp;education.&nbsp;Founded&nbsp;in&nbsp;1875&nbsp;and&nbsp;affiliated&nbsp;with&nbsp;the&nbsp;University&nbsp;ofToronto,&nbsp;SickKids&nbsp;is&nbsp;one&nbsp;of&nbsp;Canada\u2019s&nbsp;most&nbsp;research-&nbsp;intensive&nbsp;hospitals&nbsp;andhas generated&nbsp;discoveries that&nbsp;have&nbsp;helped&nbsp;children&nbsp;globally.&nbsp;&nbsp;Its&nbsp;mission&nbsp;is&nbsp;toprovide&nbsp;the&nbsp;best&nbsp;in&nbsp;complex&nbsp;and&nbsp;specialized&nbsp;family-centred&nbsp;care;&nbsp;pioneerscientific&nbsp;and&nbsp;clinical&nbsp;advancements;&nbsp;share&nbsp;expertise;&nbsp;foster&nbsp;an&nbsp;academicenvironment&nbsp;that&nbsp;nurtures&nbsp;health-care professionals;&nbsp;and&nbsp;champion&nbsp;anaccessible,&nbsp;comprehensive&nbsp;and&nbsp;sustainable&nbsp;child&nbsp;health&nbsp;system.&nbsp;SickKids&nbsp;is proud&nbsp;of&nbsp;its vision&nbsp;for&nbsp;Healthier&nbsp;Children.&nbsp;A&nbsp;Better&nbsp;World.&nbsp;For&nbsp;more&nbsp;information,please&nbsp;visit&nbsp;www.sickkids.ca For&nbsp;more&nbsp;information,&nbsp;please&nbsp;contact: Caitlin&nbsp;McNamee-Lamb [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/genomecanada.ca\/fr\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/\" \/>\n<meta property=\"og:site_name\" content=\"GenomeCanada\" \/>\n<meta property=\"article:published_time\" content=\"2015-12-26T10:04:00+00:00\" \/>\n<meta name=\"author\" content=\"Pierre\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"\u00c9crit par\" \/>\n\t<meta name=\"twitter:data1\" content=\"Pierre\" \/>\n\t<meta name=\"twitter:label2\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data2\" content=\"7 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\\\/\"},\"author\":{\"name\":\"Pierre\",\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/#\\\/schema\\\/person\\\/9178d2ca6aca04c78924c5863c96697a\"},\"headline\":\"SickKids researchers make great strides towards cracking the autism code\",\"datePublished\":\"2015-12-26T10:04:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\\\/\"},\"wordCount\":1407,\"publisher\":{\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/#organization\"},\"articleSection\":[\"News\"],\"inLanguage\":\"fr-FR\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\\\/\",\"url\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\\\/\",\"name\":\"SickKids researchers make great strides towards cracking the autism code - 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GenomeCanada","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/genomecanada.ca\/fr\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/","og_locale":"fr_FR","og_type":"article","og_title":"SickKids researchers make great strides towards cracking the autism code - GenomeCanada","og_description":"Recent&nbsp;advances&nbsp;in&nbsp;genome&nbsp;sequencing&nbsp;technology&nbsp;havefacilitated&nbsp;rapid&nbsp;identification&nbsp;of&nbsp;genetic&nbsp;alterations&nbsp;in&nbsp;genes&nbsp;associated&nbsp;withAutism&nbsp;Spectrum&nbsp;Disorder&nbsp;(ASD).&nbsp;The&nbsp;universal&nbsp;challenge&nbsp;in&nbsp;the&nbsp;field&nbsp;ofgenetics has&nbsp;been&nbsp;to&nbsp;determine&nbsp;whether&nbsp;these&nbsp;mutations&nbsp;will&nbsp;result&nbsp;in&nbsp;autism. In&nbsp;a&nbsp;study&nbsp;to&nbsp;be&nbsp;published&nbsp;in&nbsp;the&nbsp;May&nbsp;25th&nbsp;advanced&nbsp;online&nbsp;edition&nbsp;NatureGenetics,&nbsp;researchers&nbsp;at&nbsp;The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children&nbsp;(SickKids)&nbsp;andUniversity&nbsp;of&nbsp;Toronto&nbsp;have&nbsp;essentially unraveled&nbsp;the&nbsp;autism&nbsp;code,&nbsp;by&nbsp;creating&nbsp;a\u201cgenetic&nbsp;formula\u201d&nbsp;that&nbsp;will&nbsp;enable&nbsp;clinicians to&nbsp;identify genetic&nbsp;mutations&nbsp;thathave&nbsp;the&nbsp;highest&nbsp;and&nbsp;lowest&nbsp;likelihood&nbsp;of&nbsp;causing&nbsp;ASD. ASD,&nbsp;which&nbsp;has&nbsp;recently&nbsp;been&nbsp;reported&nbsp;to&nbsp;affect&nbsp;one&nbsp;in&nbsp;every&nbsp;68&nbsp;children,&nbsp;is aneurodevelopmental&nbsp;disorder&nbsp;characterized&nbsp;by&nbsp;impairments&nbsp;in&nbsp;socialinteraction&nbsp;and&nbsp;communication,&nbsp;as well&nbsp;as&nbsp;repetitive&nbsp;and&nbsp;restrictive&nbsp;behaviors.It&nbsp;is well&nbsp;established&nbsp;that&nbsp;genetics&nbsp;has a&nbsp;major&nbsp;role&nbsp;in&nbsp;the&nbsp;development&nbsp;ofautism,&nbsp;which&nbsp;in&nbsp;itself&nbsp;represents a&nbsp;collection&nbsp;of&nbsp;clinically&nbsp;similar&nbsp;disorders. \u201cThere&nbsp;has been&nbsp;incredible&nbsp;progress&nbsp;finding&nbsp;genetic&nbsp;answers,&nbsp;but&nbsp;these&nbsp;areoften&nbsp;accompanied&nbsp;by puzzling&nbsp;clinical&nbsp;observations.&nbsp;Previous&nbsp;research&nbsp;hasrevealed&nbsp;many&nbsp;conundrums&nbsp;such&nbsp;as&nbsp;mutation&nbsp;carriers&nbsp;who&nbsp;do&nbsp;not&nbsp;exhibitsymptoms&nbsp;of&nbsp;autism,\u201d&nbsp;says Dr.&nbsp;Stephen&nbsp;Scherer,&nbsp;principal&nbsp;author&nbsp;of&nbsp;the&nbsp;studyand&nbsp;senior&nbsp;scientist&nbsp;and&nbsp;director&nbsp;of&nbsp;The&nbsp;Centre&nbsp;for&nbsp;Applied&nbsp;Genomics&nbsp;atSickKids&nbsp;and&nbsp;the&nbsp;University&nbsp;of&nbsp;Toronto&nbsp;McLaughlin&nbsp;Centre.&nbsp;\u201cIn&nbsp;our&nbsp;new&nbsp;studywe\u2019ve&nbsp;finally&nbsp;discovered&nbsp;a&nbsp;unifying&nbsp;set&nbsp;of&nbsp;characteristics&nbsp;in&nbsp;the&nbsp;DNA&nbsp;that&nbsp;we&nbsp;canweave&nbsp;into&nbsp;a&nbsp;\u2018genetic&nbsp;formula\u2019&nbsp;that&nbsp;helps us&nbsp;calculate&nbsp;which&nbsp;genetic&nbsp;mutationshave&nbsp;the&nbsp;highest&nbsp;probability&nbsp;of&nbsp;causing&nbsp;autism,&nbsp;and&nbsp;equally&nbsp;important,&nbsp;whichalterations do&nbsp;not&nbsp;have&nbsp;a&nbsp;role.\u201d Dr.&nbsp;Mohammed&nbsp;Uddin,&nbsp;a&nbsp;postdoctoral&nbsp;fellow&nbsp;on&nbsp;Scherer\u2019s&nbsp;team&nbsp;determinedthat&nbsp;the&nbsp;key&nbsp;to&nbsp;solving&nbsp;the&nbsp;enigma&nbsp;of&nbsp;the&nbsp;autism&nbsp;mutation&nbsp;code,&nbsp;resides&nbsp;inrecognizing&nbsp;small&nbsp;segments&nbsp;(called exons)&nbsp;of&nbsp;genes&nbsp;that&nbsp;are&nbsp;both&nbsp;\u201chighlyconserved\u201d&nbsp;in&nbsp;human&nbsp;evolution&nbsp;and&nbsp;\u201cturned&nbsp;on\u201d&nbsp;&nbsp;during&nbsp;early&nbsp;braindevelopment. \u201cThe&nbsp;timing&nbsp;of&nbsp;this gene&nbsp;activation&nbsp;is&nbsp;an&nbsp;important&nbsp;finding.&nbsp;The&nbsp;fact&nbsp;that&nbsp;thesegenes&nbsp;could&nbsp;be&nbsp;turned&nbsp;on&nbsp;prenatally,&nbsp;gives us a&nbsp;clue&nbsp;as to&nbsp;when&nbsp;autism&nbsp;couldstart&nbsp;to&nbsp;develop,\u201d&nbsp;says&nbsp;Scherer. Metaphorically,&nbsp;genes&nbsp;are&nbsp;often&nbsp;compared&nbsp;to&nbsp;an&nbsp;orchestra,&nbsp;with&nbsp;the&nbsp;mostimportant&nbsp;exons&nbsp;representing&nbsp;instruments&nbsp;like&nbsp;the&nbsp;violin&nbsp;that&nbsp;crescendo&nbsp;(turnon,&nbsp;or&nbsp;express)&nbsp;at&nbsp;critical&nbsp;times&nbsp;in&nbsp;the developmental&nbsp;symphony. The&nbsp;Toronto&nbsp;team&nbsp;identified&nbsp;almost&nbsp;four&nbsp;thousand&nbsp;such&nbsp;brain&nbsp;exons&nbsp;in&nbsp;morethan&nbsp;seventeen&nbsp;hundred&nbsp;different&nbsp;genes.&nbsp;In&nbsp;addition,&nbsp;the&nbsp;one&nbsp;hundred&nbsp;or&nbsp;soknown&nbsp;autism&nbsp;susceptibility&nbsp;genes&nbsp;already&nbsp;used&nbsp;for&nbsp;diagnostic&nbsp;testing&nbsp;werefurther&nbsp;validated&nbsp;by&nbsp;the&nbsp;new&nbsp;approach,&nbsp;as were&nbsp;genes&nbsp;involved&nbsp;in&nbsp;otherneurodevelopmental&nbsp;conditions&nbsp;such&nbsp;as&nbsp;intellectual&nbsp;disability,&nbsp;which&nbsp;is&nbsp;often&nbsp;afeature&nbsp;of&nbsp;ASD. Scherer&nbsp;predicts&nbsp;that&nbsp;&nbsp;many&nbsp;of&nbsp;the&nbsp;novel&nbsp;genes&nbsp;discovered&nbsp;by&nbsp;his group&nbsp;thatbear&nbsp;these&nbsp;newly defined&nbsp;unique&nbsp;characteristics,&nbsp;will&nbsp;eventually&nbsp;be&nbsp;proven&nbsp;byother&nbsp;means to&nbsp;be&nbsp;involved&nbsp;in&nbsp;autism&nbsp;or&nbsp;intellectual&nbsp;disability,&nbsp;or&nbsp;other&nbsp;relatedmedical&nbsp;conditions&nbsp;associated&nbsp;with&nbsp;brain&nbsp;development&nbsp;or&nbsp;cognition. \u201cThis groundbreaking&nbsp;work&nbsp;will&nbsp;have&nbsp;immediate&nbsp;impact&nbsp;on&nbsp;efforts&nbsp;to&nbsp;developmore&nbsp;accurate genetic&nbsp;diagnostic&nbsp;tests&nbsp;aimed&nbsp;at&nbsp;improving&nbsp;earlier&nbsp;detectionand&nbsp;clinical&nbsp;decisions to&nbsp;begin&nbsp;intervention\u201d&nbsp;says Dr.&nbsp;Robert&nbsp;Ring,&nbsp;ChiefScientific&nbsp;Officer&nbsp;of&nbsp;Autism&nbsp;Speaks.&nbsp;\u201cImprovements&nbsp;in&nbsp;our&nbsp;understanding&nbsp;ofmechanisms&nbsp;involved&nbsp;in&nbsp;brain&nbsp;expression&nbsp;of&nbsp;disease&nbsp;mutations&nbsp;will&nbsp;also&nbsp;helpto&nbsp;reveal&nbsp;new&nbsp;biological&nbsp;space&nbsp;worth&nbsp;targeting&nbsp;for&nbsp;the&nbsp;development&nbsp;ofmedicines&nbsp;that&nbsp;benefit&nbsp;individuals&nbsp;with&nbsp;autism&nbsp;and&nbsp;related&nbsp;neurodevelopmentaldisorders.\u201d This&nbsp;research&nbsp;was&nbsp;supported&nbsp;by&nbsp;grants&nbsp;from&nbsp;the&nbsp;University&nbsp;of&nbsp;TorontoMcLaughlin&nbsp;Centre, NeuroDevNet, Genome&nbsp;Canada&nbsp;and&nbsp;the&nbsp;OntarioGenomics&nbsp;Institute,&nbsp;the&nbsp;Canadian&nbsp;Institutes&nbsp;for Health&nbsp;Research&nbsp;(CIHR),&nbsp;theCanadian&nbsp;Institute&nbsp;for&nbsp;Advanced&nbsp;Research,&nbsp;the&nbsp;Canada&nbsp;Foundation&nbsp;forInnovation,&nbsp;the&nbsp;government&nbsp;of&nbsp;Ontario,&nbsp;the&nbsp;Ontario&nbsp;Brain&nbsp;Institute,&nbsp;AutismSpeaks&nbsp;and&nbsp;SickKids&nbsp;Foundation. This&nbsp;research&nbsp;has&nbsp;been&nbsp;developed&nbsp;in&nbsp;close&nbsp;collaboration&nbsp;with&nbsp;the&nbsp;IndustryPartnerships&nbsp;and&nbsp;Commercialization&nbsp;Office&nbsp;at&nbsp;SickKids.&nbsp;The&nbsp;technologymentioned&nbsp;above&nbsp;is&nbsp;available&nbsp;for licensing. About&nbsp;The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children The&nbsp;Hospital&nbsp;for&nbsp;Sick&nbsp;Children&nbsp;(SickKids)&nbsp;is&nbsp;recognized&nbsp;as&nbsp;one&nbsp;of&nbsp;the&nbsp;world\u2019sforemost paediatric&nbsp;health-care&nbsp;institutions&nbsp;and&nbsp;is&nbsp;Canada\u2019s&nbsp;leading&nbsp;centrededicated&nbsp;to&nbsp;advancing&nbsp;children\u2019s health&nbsp;through&nbsp;the&nbsp;integration&nbsp;of&nbsp;patient&nbsp;care,research&nbsp;and&nbsp;education.&nbsp;Founded&nbsp;in&nbsp;1875&nbsp;and&nbsp;affiliated&nbsp;with&nbsp;the&nbsp;University&nbsp;ofToronto,&nbsp;SickKids&nbsp;is&nbsp;one&nbsp;of&nbsp;Canada\u2019s&nbsp;most&nbsp;research-&nbsp;intensive&nbsp;hospitals&nbsp;andhas generated&nbsp;discoveries that&nbsp;have&nbsp;helped&nbsp;children&nbsp;globally.&nbsp;&nbsp;Its&nbsp;mission&nbsp;is&nbsp;toprovide&nbsp;the&nbsp;best&nbsp;in&nbsp;complex&nbsp;and&nbsp;specialized&nbsp;family-centred&nbsp;care;&nbsp;pioneerscientific&nbsp;and&nbsp;clinical&nbsp;advancements;&nbsp;share&nbsp;expertise;&nbsp;foster&nbsp;an&nbsp;academicenvironment&nbsp;that&nbsp;nurtures&nbsp;health-care professionals;&nbsp;and&nbsp;champion&nbsp;anaccessible,&nbsp;comprehensive&nbsp;and&nbsp;sustainable&nbsp;child&nbsp;health&nbsp;system.&nbsp;SickKids&nbsp;is proud&nbsp;of&nbsp;its vision&nbsp;for&nbsp;Healthier&nbsp;Children.&nbsp;A&nbsp;Better&nbsp;World.&nbsp;For&nbsp;more&nbsp;information,please&nbsp;visit&nbsp;www.sickkids.ca For&nbsp;more&nbsp;information,&nbsp;please&nbsp;contact: Caitlin&nbsp;McNamee-Lamb [&hellip;]","og_url":"https:\/\/genomecanada.ca\/fr\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/","og_site_name":"GenomeCanada","article_published_time":"2015-12-26T10:04:00+00:00","author":"Pierre","twitter_card":"summary_large_image","twitter_misc":{"\u00c9crit par":"Pierre","Dur\u00e9e de lecture estim\u00e9e":"7 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/genomecanada.ca\/fr\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/#article","isPartOf":{"@id":"https:\/\/genomecanada.ca\/fr\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/"},"author":{"name":"Pierre","@id":"https:\/\/genomecanada.ca\/fr\/#\/schema\/person\/9178d2ca6aca04c78924c5863c96697a"},"headline":"SickKids researchers make great strides towards cracking the autism code","datePublished":"2015-12-26T10:04:00+00:00","mainEntityOfPage":{"@id":"https:\/\/genomecanada.ca\/fr\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/"},"wordCount":1407,"publisher":{"@id":"https:\/\/genomecanada.ca\/fr\/#organization"},"articleSection":["News"],"inLanguage":"fr-FR"},{"@type":"WebPage","@id":"https:\/\/genomecanada.ca\/fr\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/","url":"https:\/\/genomecanada.ca\/fr\/sickkids-researchers-make-great-strides-towards-cracking-autism-code-2\/","name":"SickKids researchers make great strides towards cracking the autism code - 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