{"id":2286,"date":"2024-07-24T13:30:12","date_gmt":"2024-07-24T03:30:12","guid":{"rendered":"https:\/\/blogs.rch.org.au\/grandrounds\/?p=2286"},"modified":"2024-08-07T16:08:24","modified_gmt":"2024-08-07T06:08:24","slug":"2024-reddihough-symposium-intellectual-disability-a-potentially-treatable-condition","status":"publish","type":"post","link":"https:\/\/blogs.rch.org.au\/grandrounds\/2024\/07\/24\/2024-reddihough-symposium-intellectual-disability-a-potentially-treatable-condition\/","title":{"rendered":"2024 Reddihough Symposium &#8211; Intellectual Disability: A Potentially Treatable Condition"},"content":{"rendered":"<p><iframe loading=\"lazy\" src=\"https:\/\/player.vimeo.com\/video\/994908934?dnt=1&amp;app_id=122963\" width=\"1140\" height=\"641\" frameborder=\"0\" allow=\"autoplay; fullscreen; picture-in-picture; clipboard-write\"><\/iframe><\/p>\n<p><strong>Synopsis<\/strong><br \/>\nThe application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual<br \/>\ndisability and improved our understanding of the neuronal processes that result in cognitive impairment.<br \/>\nMeanwhile, families are building rare disease communities and seeking disease-specific treatments to change<br \/>\nthe trajectory of health and developmental outcomes for their children. To date, treatments for intellectual<br \/>\ndisability have focussed on metabolic disorders, where early treatment has improved cognition and<br \/>\nneurodevelopmental outcomes. Yet similar and new treatment strategies may be able to change the<br \/>\nneurodevelopmental outcome in a broader range of genetic forms of intellectual disability. These strategies<br \/>\ninclude substrate modification, enzyme replacement therapy, gene therapy and molecular therapies. In this<br \/>\nsetting, intellectual disability should now be considered a potentially treatable condition and a strong candidate<br \/>\nfor precision medicine.<\/p>\n<p><strong>Speakers<\/strong><br \/>\n<strong>Professor David Amor<\/strong> trained in paediatrics and genetics at the Royal Children\u2019s Hospital before completing<br \/>\na PhD in Chromosome Biology at MCRI. In 2016 he was appointed to the Lorenzo and Pamela Galli Chair in<br \/>\nDevelopmental Medicine, prior to which he was Director of Victorian Clinical Genetics Services. His current<br \/>\nresearch focuses on the genetics of intellectual disability, the identification of genes for rare syndromes, and the<br \/>\ndevelopment of personalised and precision medicine for neurodevelopmental disorders.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>The application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual<br \/>\ndisability and improved our understanding of the neuronal processes that result in cognitive impairment.<br \/>\nMeanwhile, families are building rare disease communities and seeking disease-specific treatments to change<br \/>\nthe trajectory of health and developmental outcomes for their children.<\/p>\n","protected":false},"author":6263,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[7958,7947,7930,5270],"tags":[],"class_list":["post-2286","post","type-post","status-publish","format-standard","hentry","category-disabilities","category-education-and-research","category-general-interest","category-research"],"acf":[],"_links":{"self":[{"href":"https:\/\/blogs.rch.org.au\/grandrounds\/wp-json\/wp\/v2\/posts\/2286","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.rch.org.au\/grandrounds\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.rch.org.au\/grandrounds\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.rch.org.au\/grandrounds\/wp-json\/wp\/v2\/users\/6263"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.rch.org.au\/grandrounds\/wp-json\/wp\/v2\/comments?post=2286"}],"version-history":[{"count":1,"href":"https:\/\/blogs.rch.org.au\/grandrounds\/wp-json\/wp\/v2\/posts\/2286\/revisions"}],"predecessor-version":[{"id":2287,"href":"https:\/\/blogs.rch.org.au\/grandrounds\/wp-json\/wp\/v2\/posts\/2286\/revisions\/2287"}],"wp:attachment":[{"href":"https:\/\/blogs.rch.org.au\/grandrounds\/wp-json\/wp\/v2\/media?parent=2286"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.rch.org.au\/grandrounds\/wp-json\/wp\/v2\/categories?post=2286"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.rch.org.au\/grandrounds\/wp-json\/wp\/v2\/tags?post=2286"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}