Kolling researchers will drive a large, national research project to improve diagnostic rates for those with mitochondrial diseases and broaden treatment pathways.<\/p>\n\n\n\n
A $3 million grant from the Medical Research Future Fund is being invested in the project, which will involve clinicians, researchers and diagnostic scientists from a host of organisations including the Kolling and the Murdoch Children\u2019s Research Institute.<\/p>\n\n\n\n
Kolling Executive Director and project clinical lead Professor Carolyn Sue has welcomed the funding, saying the study will use the latest technology of genome sequencing to help diagnose those with mitochondrial diseases.<\/p>\n\n\n\n
\n\u201cThis technology will build on our earlier research which demonstrated that whole genome sequencing was the best way to identify these diseases,\u201d she said.<\/p>\n\n\n\n
\u201cIn recent years, new DNA technologies have increased our ability to diagnose mitochondrial diseases by more than doubling the detection rate of genetic mutations in affected patients.<\/p>\n\n\n\n
\u201cImportantly, we anticipate this new approach with combined omic technologies will raise diagnostic rates to over 70 per cent.<\/p>\n\n\n\n
\u201cThis landmark improvement will lead to more patients being diagnosed, opening up more effective treatment pathways and crucially, improving long-term health outcomes.\u201d<\/p>\n<\/blockquote>\n\n\n\n
The technology will offer greater support with family planning and prevent some diseases from being passed on from generation to generation.<\/p>\n\n\n\n
\n\u201cMitochondrial diseases are very difficult to diagnose, and in some cases it has taken many decades for an accurate diagnosis to be confirmed.<\/p>\n\n\n\n
\u201cI\u2019m really pleased to be leading our talented, multi-disciplinary clinical team on this project, which may offer support to a large number of people.<\/p>\n\n\n\n
\u201cMitochondrial diseases can have a devastating impact on individuals and their families. The disease robs people of their energy and can affect any organ in the body.<\/p>\n\n\n\n
\u201cThat\u2019s why this research is so important and has a great potential to make a significant improvement to many people\u2019s lives, and not just their lives, but their children\u2019s lives as well.\u201d<\/p>\n<\/blockquote>\n\n\n\n
The project is a collaborative study also involving Kolling researcher Dr Ryan Davis and teams from the Murdoch Children\u2019s Research Institute, Telethon Kids Institute, the University of Melbourne, Monash University, Queensland Children\u2019s Hospital and the Mito Foundation.<\/p>\n","protected":false},"author":1,"featured_media":1884,"menu_order":0,"template":"","meta":{"_acf_changed":false,"_uag_custom_page_level_css":"","footnotes":""},"categories":[],"research-group-tax":[],"primary-research-area":[],"class_list":["post-1883","news","type-news","status-publish","has-post-thumbnail","hentry"],"acf":[],"uagb_featured_image_src":{"full":["https:\/\/kollinginstitute.org.au\/staging\/wp-content\/uploads\/2025\/09\/thumb_Blog_Carolyn-Sue_w550_h380_fcrop.webp",550,380,false],"thumbnail":["https:\/\/kollinginstitute.org.au\/staging\/wp-content\/uploads\/2025\/09\/thumb_Blog_Carolyn-Sue_w550_h380_fcrop-150x150.webp",150,150,true],"medium":["https:\/\/kollinginstitute.org.au\/staging\/wp-content\/uploads\/2025\/09\/thumb_Blog_Carolyn-Sue_w550_h380_fcrop-300x207.webp",300,207,true],"medium_large":["https:\/\/kollinginstitute.org.au\/staging\/wp-content\/uploads\/2025\/09\/thumb_Blog_Carolyn-Sue_w550_h380_fcrop.webp",550,380,false],"large":["https:\/\/kollinginstitute.org.au\/staging\/wp-content\/uploads\/2025\/09\/thumb_Blog_Carolyn-Sue_w550_h380_fcrop.webp",550,380,false],"1536x1536":["https:\/\/kollinginstitute.org.au\/staging\/wp-content\/uploads\/2025\/09\/thumb_Blog_Carolyn-Sue_w550_h380_fcrop.webp",550,380,false],"2048x2048":["https:\/\/kollinginstitute.org.au\/staging\/wp-content\/uploads\/2025\/09\/thumb_Blog_Carolyn-Sue_w550_h380_fcrop.webp",550,380,false]},"uagb_author_info":{"display_name":"ict-wordpress-support@sydney.edu.au","author_link":"https:\/\/kollinginstitute.org.au\/staging\/author\/ict-wordpress-supportsydney-edu-au\/"},"uagb_comment_info":0,"uagb_excerpt":"Kolling researchers will drive a large, national research project to improve diagnostic rates for those with mitochondrial diseases and broaden treatment pathways. A $3 million grant from the Medical Research Future Fund is being invested in the project, which will involve clinicians, researchers and diagnostic scientists from a host of organisations including the Kolling and…","_links":{"self":[{"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/news\/1883","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/news"}],"about":[{"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/types\/news"}],"author":[{"embeddable":true,"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/users\/1"}],"version-history":[{"count":1,"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/news\/1883\/revisions"}],"predecessor-version":[{"id":5456,"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/news\/1883\/revisions\/5456"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/media\/1884"}],"wp:attachment":[{"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/media?parent=1883"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/categories?post=1883"},{"taxonomy":"research-group-tax","embeddable":true,"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/research-group-tax?post=1883"},{"taxonomy":"primary-research-area","embeddable":true,"href":"https:\/\/kollinginstitute.org.au\/staging\/wp-json\/wp\/v2\/primary-research-area?post=1883"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}