Researchers at the Aortic Institute at Yale have tested the genomes of more than 100 patients with thoracic aortic aneurysms, a potentially lethal condition, and provided genetically personalized care. Their work will also lead to the development of a \u201cdictionary\u201d of genes specific to the disease, according to researchers.<\/p>\n
Experts have known for more than a decade that thoracic aortic aneurysms \u2014 abnormal enlargements of the aorta in the chest area \u2014run in families and are caused by specific genetic mutations. Until recently, comprehensive testing for these mutations has been both expensive and impractical. To streamline testing, the Aortic Institute collaborated with Dr. Allen Bale of Yale\u2019s Department of Genetics to launch a program to test whole genomes of patients with the condition.<\/p>\n
Over a period of three years, the researchers applied a technology known as Whole Exome Sequencing (WES) to more than 100 individuals with these aneurysms. \u201cTo our knowledge, it\u2019s the first widespread application of this technology to this disease,\u201d said lead author and cardiac surgeon Dr. John A. Elefteriades, director of the institute.<\/p>\n
The researchers detected four mutations known to cause thoracic aortic aneurysms. \u201cThe key findings are that this technology can be applied to this disease and it identifies a lot of patients with genetic mutations,\u201d said Elefteriades.<\/p>\n
Additionally, the testing program uncovered 22 previously unknown gene variants that likely also contribute to the condition.<\/p>\n
Using the test results, the clinicians were able to provide treatment tailored to each patient\u2019s genetic profile. \u201cPersonalized aortic aneurysm care is now a reality,\u201d Elefteriades noted. The personalized care ranged from more frequent imaging tests to preventive surgery for those most at risk. \u201cPatients who have very dangerous mutations are getting immediate surgery,\u201d he said.<\/p>\n
Given that aneurysm disease is a highly inherited condition, affecting each generation, the researchers offered testing to family members of patients, and found mutations in relatives with no clinical signs of disease.<\/p>\n
The researchers anticipate identifying more gene variants over time, accumulating a whole dictionary of mutations. \u201cIn a few years, we\u2019re going to have discovered many new genes and be able to offer personalized care to an even greater percentage of aneurysm patients, \u201d Elefteriades said.\nYale University<\/link>\n","protected":false},"excerpt":{"rendered":"
Researchers at the Aortic Institute at Yale have tested the genomes of more than 100 patients with thoracic aortic aneurysms, a potentially lethal condition, and provided genetically personalized care. Their work will also lead to the development of a \u201cdictionary\u201d of genes specific to the disease, according to researchers. Experts have known for more than […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1364"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1364"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1364\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1364"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1364"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1364"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}