{"id":781986,"date":"2026-09-25T08:38:09","date_gmt":"2026-09-25T08:38:09","guid":{"rendered":"https:\/\/www.newsbeep.com\/uk\/781986\/"},"modified":"2026-09-25T08:38:09","modified_gmt":"2026-09-25T08:38:09","slug":"bath-mum-says-ai-helped-diagnose-her-daughters-rare-condition","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/uk\/781986\/","title":{"rendered":"Bath mum says AI helped diagnose her daughter&#8217;s rare condition"},"content":{"rendered":"<p class=\"ssrcss-1q0x1qg-Paragraph e1jhz7w10\">MSMDS is caused by a specific change in the ACTA2 gene and affects organs such as the heart and kidneys. <\/p>\n<p class=\"ssrcss-1q0x1qg-Paragraph e1jhz7w10\">As well as the heart condition, Rosie said Lily&#8217;s pupils were always dilated. She now needs to wear sunglasses when outdoors.<\/p>\n<p class=\"ssrcss-1q0x1qg-Paragraph e1jhz7w10\">Lily is one of only 70 people known to have the condition worldwide.<\/p>\n<p class=\"ssrcss-1q0x1qg-Paragraph e1jhz7w10\">She is under the supervision of Great Ormond Street Hospital and Bristol Royal Hospital for Children. <\/p>\n<p class=\"ssrcss-1q0x1qg-Paragraph e1jhz7w10\">The BBC has contacted the hospitals, but neither has responded.<\/p>\n<p class=\"ssrcss-1q0x1qg-Paragraph e1jhz7w10\">Lily&#8217;s parents, Rosie and Jonny, have set up a charity, ACTA2 Alliance UK, to fund research into the condition.<\/p>\n<p class=\"ssrcss-1q0x1qg-Paragraph e1jhz7w10\">They said international research into potential treatments and a cure is being led from Boston, America, while other promising approaches are also being explored in the UK.<\/p>\n<p class=\"ssrcss-1q0x1qg-Paragraph e1jhz7w10\">&#8220;We are speaking to some people in England about research into other treatment options, so that&#8217;s one of our current targets of \u00a330,000 to raise towards that for a proof of concept, so we&#8217;re really hoping that can be another option, alongside the incredible work already happening internationally,&#8221; Rosie added.<\/p>\n","protected":false},"excerpt":{"rendered":"MSMDS is caused by a specific change in the ACTA2 gene and affects organs such as the heart&hellip;\n","protected":false},"author":2,"featured_media":781987,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[20],"tags":[554,733,4308,86,56,54,55],"class_list":["post-781986","post","type-post","status-publish","format-standard","has-post-thumbnail","category-artificial-intelligence","tag-ai","tag-artificial-intelligence","tag-artificialintelligence","tag-technology","tag-uk","tag-united-kingdom","tag-unitedkingdom"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/781986","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/comments?post=781986"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/781986\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media\/781987"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media?parent=781986"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/categories?post=781986"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/tags?post=781986"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}