{"id":81411,"date":"2026-07-17T13:09:10","date_gmt":"2026-07-17T17:09:10","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2026\/07\/17\/le-parcours-de-la-famille-hoffmann-face-au-syndrome-lie-au-gene-med12\/"},"modified":"2026-07-17T13:09:10","modified_gmt":"2026-07-17T17:09:10","slug":"le-parcours-de-la-famille-hoffmann-face-au-syndrome-lie-au-gene-med12","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/fr\/2026\/07\/17\/le-parcours-de-la-famille-hoffmann-face-au-syndrome-lie-au-gene-med12\/","title":{"rendered":"Le parcours de la famille Hoffmann face au syndrome li\u00e9 au g\u00e8ne MED12"},"content":{"rendered":"

Que faites-vous pour vous amuser ?<\/strong><\/h3>\n

L’\u00e9quitation, le patinage sur glace, le kayak, la natation et la randonn\u00e9e.<\/p>\n

Parlez-nous de la plus grande difficult\u00e9 \u00e0 laquelle vous \u00eates confront\u00e9.<\/b><\/h3>\n

Il est difficile de trouver d’autres personnes concern\u00e9es. Il existe diverses bases de donn\u00e9es g\u00e9n\u00e9tiques qui ne sont pas interconnect\u00e9es. <\/p>\n

\"\"<\/b><\/h3>\n

Qu’est-ce qui vous motive \u00e0 participer \u00e0 la recherche ? En quoi la participation \u00e0 la recherche vous a-t-elle \u00e9t\u00e9 utile ? <\/h3>\n

Identifier les causes possibles et mettre au point des protocoles th\u00e9rapeutiques.<\/p>\n

En quoi pensez-vous aider Simons Searchlight<\/span> \u00e0 en savoir plus sur les changements g\u00e9n\u00e9tiques rares ?<\/h3>\n

Ce serait peut-\u00eatre une v\u00e9ritable aubaine que de pouvoir trouver cela.<\/p>\n

Quelle est la question \u00e0 laquelle vous souhaiteriez que les chercheurs puissent r\u00e9pondre au sujet de ce changement g\u00e9n\u00e9tique ?<\/b><\/h3>\n

Peut-on envisager des approches de recherche \u00e9pig\u00e9n\u00e9tique susceptibles d’influencer la s\u00e9quence du g\u00e8ne MED12 ?<\/p>\n

\"\"<\/p>\n

Qu’avez-vous appris d’autres familles sur votre maladie g\u00e9n\u00e9tique ou celle de votre enfant ?<\/h3>\n

Malheureusement, rien \u00e0 ce jour.<\/p>\n

Si vous pouviez donner un conseil \u00e0 une personne r\u00e9cemment diagnostiqu\u00e9e avec ce changement g\u00e9n\u00e9tique, quel serait-il ?<\/strong><\/h3>\n

Partagez vos exp\u00e9riences personnelles et vos recherches.<\/p>\n","protected":false},"excerpt":{"rendered":"

D\u00e9couvrez l’histoire inspirante des Hoffmann.<\/p>\n","protected":false},"author":28,"featured_media":81378,"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":[189],"tags":[],"class_list":["post-81411","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-histoire-de-famille"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts\/81411","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\/28"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=81411"}],"version-history":[{"count":0,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts\/81411\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media\/81378"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=81411"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/categories?post=81411"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/tags?post=81411"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}