\n <\/p>\n
Researchers at a Hackathon used AlphaGenome to search for the genetic causes of 29 undiagnosed diseases.<\/span>Credit: Peter Kov\u00e1\u010d\/Alamy<\/span><\/p>\n When more than 100 researchers voluntarily locked themselves in a room last year to tackle some of the hardest conditions in medicine, they turned to artificial intelligence.<\/p>\n As part of an effort, called the Undiagnosed Hackathon, to crack 29 undiagnosed conditions researchers deployed AlphaGenome \u2014 an AI model developed by Google DeepMind in London that was described in Nature on 28 January1.<\/p>\n AlphaGenome \u2014 an AI tool that was made available to scientists last year \u2014 can predict the diverse effects of mutations in non-coding DNA sequences, including how they might affect the activity of nearby genes.<\/p>\n Deciphering the 98% of the human genome that does not code for proteins is one of biology\u2019s grand challenges. Mutations in these sequences are especially vexing to researchers seeking to uncover the genetic basis for rare, often fatal diseases.<\/p>\n \u201cThese are variants that, to be quite honest, often get triaged,\u201d says Eric Klee, a bioinformatician at the Mayo Clinic in Rochester, Minnesota, who co-led the Undiagnosed Hackathon in September last year.<\/p>\n The three-day event at the Mayo Clinic in Rochester, as well as two previous hackathons in Europe, were organized by the Wilhelm Foundation \u2014 a charity in Brottby, Sweden, that advocates for families affected by undiagnosed rare diseases. The charity was founded by Helene and Mikk Cederroth, who lost three of their four children to an undiagnosed disease, and named the foundation after their eldest son, who died at the age of 16.<\/p>\n Around 350 million people have an undiagnosed rare condition, but only a fraction can be diagnosed using existing technologies such as genome sequencing. \u201cIf you don\u2019t have a diagnosis, you are left behind,\u201d says Helene Cederroth.<\/p>\n DeepMind\u2019s new AlphaGenome AI tackles the \u2018dark matter\u2019 in our DNA<\/p>\n<\/p>\n Efforts to diagnose rare diseases tend to focus on mutations in protein-coding regions of the genome, known as the exome. To see if AlphaGenome could help to interpret the effects non-coding variants, Klee tested its prediction for a variant that he and his colleagues had linked to an individual\u2019s diagnosis, before the September 2025 hackathon.<\/p>\n Experimental work showed that the mutation altered gene expression in cardiac cells, but not in neural cells, which was in line with the symptoms the individual experienced. AlphaGenome\u2019s predictions of the variant\u2019s effects supported this conclusion, Klee says.<\/p>\n Researchers at a Hackathon used AlphaGenome to search for the genetic causes of 29 undiagnosed diseases.Credit: Peter Kov\u00e1\u010d\/Alamy When more than 100 researchers voluntarily locked themselves in a room last year to tackle some of the hardest conditions in medicine, they turned to artificial intelligence. As part of an effort, called the Undiagnosed Hackathon, to<\/p>\n","protected":false},"author":1,"featured_media":43224,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[58],"tags":[22643,4391,2814,4822,485,1649],"class_list":{"0":"post-43223","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-science","8":"tag-deepminds","9":"tag-disease","10":"tag-genome","11":"tag-mysteries","12":"tag-rare","13":"tag-solve"},"_links":{"self":[{"href":"https:\/\/naijaglobalnews.org\/index.php?rest_route=\/wp\/v2\/posts\/43223","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/naijaglobalnews.org\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/naijaglobalnews.org\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/naijaglobalnews.org\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/naijaglobalnews.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=43223"}],"version-history":[{"count":0,"href":"https:\/\/naijaglobalnews.org\/index.php?rest_route=\/wp\/v2\/posts\/43223\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/naijaglobalnews.org\/index.php?rest_route=\/wp\/v2\/media\/43224"}],"wp:attachment":[{"href":"https:\/\/naijaglobalnews.org\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=43223"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/naijaglobalnews.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=43223"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/naijaglobalnews.org\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=43223"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}Undiagnosed rare diseases<\/h2>\n
Diagnostic hackathon<\/h2>\n","protected":false},"excerpt":{"rendered":"