{"id":83977,"date":"2026-10-16T11:57:20","date_gmt":"2026-10-16T15:57:20","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2026\/10\/16\/nouveaux-rapports-trimestriels-octobre-2026\/"},"modified":"2026-10-16T11:57:20","modified_gmt":"2026-10-16T15:57:20","slug":"nouveaux-rapports-trimestriels-octobre-2026","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/fr\/2026\/10\/16\/nouveaux-rapports-trimestriels-octobre-2026\/","title":{"rendered":"Nouveaux rapports trimestriels \u2013 octobre 2026"},"content":{"rendered":"<h4>Nos rapports trimestriels d&#8217;octobre 2026 pr\u00e9sentent les derni\u00e8res analyses fournies par les participants au projet <span class=\"notranslate\">Simons Searchlight<\/span> issus de 94 communaut\u00e9s g\u00e9n\u00e9tiques, dont sept nouveaux groupes ! (liste compl\u00e8te ci-dessous).<\/h4>\n<h3>\u00c0 propos de ce rapport<\/h3>\n<p>D\u00e8s qu\u2019une communaut\u00e9 g\u00e9n\u00e9tique a atteint le nombre de 10 questionnaires \u00ab Ant\u00e9c\u00e9dents m\u00e9dicaux annuels \u00bb d\u00fbment remplis, <span class=\"notranslate\">Simons Searchlight<\/span> \u00e9tablit un rapport trimestriel afin de partager les enseignements tir\u00e9s des informations fournies par les familles.<\/p>\n<p><strong>Chaque rapport met en \u00e9vidence les donn\u00e9es relatives aux ant\u00e9c\u00e9dents m\u00e9dicaux dans quatre domaines cl\u00e9s :<\/strong><\/p>\n<ul>\n<li>Tranches d&#8217;\u00e2ge<\/li>\n<li>Troubles du d\u00e9veloppement et du comportement<\/li>\n<li>Troubles neurologiques<\/li>\n<li>Troubles gastro-intestinaux<\/li>\n<\/ul>\n<p>Les rapports font \u00e9galement \u00e9tat des progr\u00e8s en mati\u00e8re de participation communautaire, montrant comment les familles contribuent \u00e0 enrichir le corpus de donn\u00e9es de recherche.<\/p>\n<p><strong>\u00ab L&#8217;union fait la force \u00bb signifie que chaque contribution compte<\/strong>. En participant et en \u00e9tant prises en compte, les familles contribuent \u00e0 dresser un tableau plus pr\u00e9cis de leur communaut\u00e9 g\u00e9n\u00e9tique. \u00c0 mesure que de plus en plus de familles partagent leurs exp\u00e9riences au fil du temps, les donn\u00e9es gagnent en fiabilit\u00e9 et en utilit\u00e9 pour les chercheurs qui s&#8217;efforcent de mieux comprendre les maladies g\u00e9n\u00e9tiques rares.<\/p>\n<p>Merci \u00e0 toutes les familles qui contribuent \u00e0 enrichir ensemble ces connaissances. \ud83d\udc99<\/p>\n<h3>Consultez votre rapport<\/h3>\n<p>Votre rapport trimestriel est disponible sur votre page Web <span class=\"notranslate\">Simons Searchlight<\/span> (page d\u00e9di\u00e9e \u00e0 votre g\u00e8ne) : <a href=\"http:\/\/bit.ly\/Genes_We_Study\">bit.ly\/Genes_We_Study<\/a><\/p>\n<h3>Partagez cette ressource<\/h3>\n<p>Nous encourageons les familles \u00e0 partager ces rapports avec les professionnels de sant\u00e9, les enseignants et toute autre personne susceptible d\u2019en tirer profit.<\/p>\n<h3>Continuez \u00e0 contribuer<\/h3>\n<p>Nous remercions chaleureusement toutes les familles et tous nos partenaires de d\u00e9fense des droits des patients qui rendent ce travail possible. Vos contributions contribuent \u00e0 faire avancer la recherche et \u00e0 approfondir la compr\u00e9hension de ces maladies g\u00e9n\u00e9tiques. <span style=\"font-weight: 400;\">N\u2019oubliez pas de consulter votre<\/span><a href=\"https:\/\/bit.ly\/Simons_Searchlight_Dashboard\"> <span style=\"font-weight: 400;\">tableau de bord<\/span><\/a><span style=\"font-weight: 400;\"> r\u00e9guli\u00e8rement pour d\u00e9couvrir de nouvelles enqu\u00eates qui vous permettront de partager vos connaissances avec <span class=\"notranslate\">Simons Searchlight<\/span>.<\/span><\/p>\n<h3>Communaut\u00e9s g\u00e9n\u00e9tiques disposant de rapports :<\/h3>\n<p>* D\u00e9l\u00e9tion 15q11.2 BP1-BP2<br \/>\n* D\u00e9l\u00e9tion 15q13.3<br \/>\n* D\u00e9l\u00e9tion 16p11.2<br \/>\n* Duplication 16p11.2<br \/>\n* D\u00e9l\u00e9tion 16p12.2<br \/>\n* D\u00e9l\u00e9tion 16p13.11<br \/>\n* Duplication 17q12<br \/>\n* D\u00e9l\u00e9tion 1q21.1<br \/>\n* Duplication 1q21.1<br \/>\n* D\u00e9l\u00e9tion 2p16.3<br \/>\n* D\u00e9l\u00e9tion 5p<br \/>\n* Duplication 7q11.23<br \/>\n* ADNP<br \/>\n* ANK2<br \/>\n* ANKRD11<br \/>\n* ARID1B<br \/>\n* ASH1L<br \/>\n* ASXL3<br \/>\n* ATRX<br \/>\n* AUTS2<br \/>\n* CHAMP1<br \/>\n* CHD2<br \/>\n* CHD8<br \/>\n* CLCN4<br \/>\n* CNOT3<br \/>\n* CSDE1<br \/>\n* CSNK2A1<br \/>\n* CSNK2B<br \/>\n* CTBP1<br \/>\n* CTCF<br \/>\n* CTNNB1<br \/>\n* CUL3<br \/>\n* DDX3X<br \/>\n* DEAF1 (syndrome de Vulto-van Silfhout-de Vries)<br \/>\n* D\u00e9l\u00e9tion distale 16p11.2<br \/>\n* Duplication distale 16p11.2<br \/>\n* DLG4<br \/>\n* DYNC1H1<br \/>\n* DYRK1A<br \/>\n* EHMT1<br \/>\n* EIF3F (trouble neurod\u00e9veloppemental li\u00e9 \u00e0 EIF3F)<br \/>\n* EP300<br \/>\n* FBXO11<br \/>\n* FOXP1<br \/>\n* GRIN1<br \/>\n* GRIN2A<br \/>\n* GRIN2B<br \/>\n* HIVEP2<br \/>\n* HNRNPH2<br \/>\n* HNRNPU<br \/>\n* IQSEC2<br \/>\n* IRF2BPL<br \/>\n* KCNB1<br \/>\n* KDM6B<br \/>\n* KdVS (d\u00e9l\u00e9tion 17q21.31 et KANSL1)<br \/>\n* KMT2C<br \/>\n* KMT2E<br \/>\n* KMT5B<br \/>\n* MED13<br \/>\n* MED13L<br \/>\n* MEF2C<br \/>\n* MYT1L<br \/>\n* NAA15<br \/>\n* NBEA<br \/>\n* NEXMIF<br \/>\n* NRXN1<br \/>\n* PACS1<br \/>\n* POGZ<br \/>\n* PPP2R1A<br \/>\n* PPP2R5D<br \/>\n* PPP3CA<br \/>\n* SCN2A<br \/>\n* SETBP1<br \/>\n* SETD5<br \/>\n* SLC6A1<br \/>\n* STXBP1<br \/>\n* SYNCRIP<br \/>\n* SYNGAP1<br \/>\n* TANC2<br \/>\n* TAOK1<br \/>\n* TBR1<br \/>\n* TLK2<br \/>\n* TRIO<br \/>\n* TRIP12<\/p>\n<p><strong>7 nouveaux groupes :<\/strong><\/p>\n<p>* CAPRIN1<br \/>\n* GIGYF1<br \/>\n* MBD5<br \/>\n* NR4A2<br \/>\n* PHIP<br \/>\n* TCF20<br \/>\n* WAC<\/p>\n","protected":false},"excerpt":{"rendered":"<p>D\u00e9couvrez les nouvelles perspectives apport\u00e9es par nos participants issus de 94 communaut\u00e9s g\u00e9n\u00e9tiques.<\/p>\n","protected":false},"author":18,"featured_media":39588,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","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":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[195],"tags":[],"class_list":["post-83977","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-donnees"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts\/83977","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/18"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=83977"}],"version-history":[{"count":0,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts\/83977\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media\/39588"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=83977"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/categories?post=83977"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/tags?post=83977"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}