{"id":323303,"date":"2025-08-06T19:36:17","date_gmt":"2025-08-06T19:36:17","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/323303\/"},"modified":"2025-08-06T19:36:17","modified_gmt":"2025-08-06T19:36:17","slug":"jeans-for-genes-day-research-offering-hope-to-children-like-harper-who-lives-with-a-rare-liver-condition","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/323303\/","title":{"rendered":"Jeans for Genes Day: Research offering hope to children like Harper, who lives with a rare liver condition"},"content":{"rendered":"

Putting on a pair of jeans today could offer hope to kids with incurable genetic conditions like Harper Mitsopoulos.<\/p>\n

Jeans for Genes Day<\/a> on August 7 is raising funds for the Children\u2019s Medical Research Institute in a bid to cure genetic conditions.<\/p>\n

One-year-old Harper was born with Ornithine Transcarbamylase (OTC) deficiency, where the body can\u2019t breakdown ammonia \u2014 a toxic waste product when digesting protein \u2014 leading to its build up in the blood.<\/p>\n

Harper seemed like every other one-year-old until she suddenly became lethargic and wasn\u2019t responding to her parents.<\/p>\n

\u201cWe took her to like the ED straight away and they ran a bunch of tests on her and couldn\u2019t figure it out for a while,\u201d Harper\u2019s mum Bronte Wilson said.<\/p>\n

\u201cWe had never heard of it so obviously when we found out it was quite overwhelming and we were wondering what her future looked like.\u201d<\/p>\n

\u201cThat first episode is vital and we obviously got her to the hospital in time for her to not hopefully have any ongoing issues and it\u2019s basically now just a controlled diet for the rest of her life,\u201d Harper\u2019s dad Kyle Mitsopoulos added.<\/p>\n

\"HarperCamera IconHarper Mitsopoulos (20 months) pictured with her parents Bronte and Kyle at home in Willagee. Credit: Justin Benson-Cooper\/The West Australian<\/p>\n

The only way to manage the condition is through a low protein diet and haemofiltration \u2014 a tool that removes waste products and excess fluid from the blood.<\/p>\n

Currently, the cure for OTC deficiency is a liver transplant which means being on immunosuppressive medications for life to prevent liver rejection.<\/p>\n

Harper is doing well with her low protein diet but her parents said Jeans for Genes research was offering hope for the future.<\/p>\n

Mr Mitsopoulos is taking on the Jeans for Genes 100 Skips a Day challenge during August to help raise funds.<\/p>\n

\u201cIt is rare and there isn\u2019t much information about conditions like OTC deficiency so the more awareness and the more funds there is into research helps everybody involved,\u201d Ms Wilson said.<\/p>\n

CMRI gene therapy associate professor Samantha Ginn said funding was important for conditions like OTC deficiency so children would one day not need a liver transplant to fix the rare condition.<\/p>\n

\u201cUp until the point that they get a liver transplant, they need to be managed very carefully to make sure they don\u2019t have episodes of high ammonia in the blood which can cause coma and unfortunately in some cases be fatal,\u201d she said.<\/p>\n

\u201cFor a liver transplant, you have to wait for a donor, there can be complications from transplantation and then they\u2019re maintained on immunosuppressive medications for life.<\/p>\n

\u201cThat\u2019s why we think gene therapy is important. If we can treat their own liver that provides an alternative.\u201d<\/p>\n

The CMRI team has been working on gene therapies for 30 years with promising trials revealing they could restore function to cells in the liver that aren\u2019t working.<\/p>\n

\u201cWe\u2019ve got some very promising data in early trials with one child treated,\u201d associate professor Ginn said.<\/p>\n","protected":false},"excerpt":{"rendered":"Putting on a pair of jeans today could offer hope to kids with incurable genetic conditions like Harper…\n","protected":false},"author":2,"featured_media":323304,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[267,105,12,70,16,15],"class_list":{"0":"post-323303","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-health","10":"tag-news","11":"tag-science","12":"tag-uk","13":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114983507574495380","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/323303","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=323303"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/323303\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/323304"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=323303"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=323303"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=323303"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}