{"id":13023,"date":"2018-05-23T17:02:37","date_gmt":"2018-05-23T15:02:37","guid":{"rendered":"https:\/\/news.embl.de\/?p=13023"},"modified":"2024-03-22T23:14:51","modified_gmt":"2024-03-22T22:14:51","slug":"exploring-genetic-variation","status":"publish","type":"post","link":"https:\/\/www.embl.org\/news\/science\/exploring-genetic-variation\/","title":{"rendered":"Exploring genetic variation"},"content":{"rendered":"\n<p>Growing up, the books Jan Korbel liked to read were standard childhood fodder: astronomy, dinosaurs, and archaeology caught his imagination. It was only in his final years at school, when he started learning about genetics, that an interest in biology really took hold. \u201cI had a very good teacher,\u201d he says. \u201cShe later told me that she was always quite sceptical about genetics but apparently it didn\u2019t show! It\u2019s a fascination I had at the age of fifteen that\u2019s never gone away.\u201d<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Combining disciplines<\/h3>\n\n\n\n<div class=\"wp-block-image wp-image-13485 size-full\"><figure class=\"vf-figure  | vf-figure--align vf-figure--align-inline-start  \"><img loading=\"lazy\" decoding=\"async\" width=\"310\" height=\"363\" class=\"vf-figure__image\" src=\"https:\/\/news.embl.de\/wp-content\/uploads\/2018\/05\/Jan-Korbel_07302200027401-for-web.jpg\" alt=\"EMBL group leader Jan Korbel. Korbel\u2019s research focuses on human genome structural variation. PHOTO: Marietta Schupp\/EMBL\" class=\"wp-image-13485\" srcset=\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2018\/05\/Jan-Korbel_07302200027401-for-web.jpg 310w, https:\/\/www.embl.org\/news\/wp-content\/uploads\/2018\/05\/Jan-Korbel_07302200027401-for-web-256x300.jpg 256w\" sizes=\"auto, (max-width: 310px) 100vw, 310px\" \/><figcaption class=\"vf-figure__caption\">EMBL group leader Jan Korbel. PHOTO: Marietta Schupp\/EMBL<\/figcaption><\/figure><\/div>\n\n\n\n<p>As an undergraduate, Korbel spent a few months as an intern at the Roslin Insitute in Edinburgh, UK, at the same time that Dolly the sheep \u2013 the first mammal to be cloned from an adult cell \u2013 was in residence. \u201cI basically took my first step in molecular biology at the Roslin Institute,\u201d he explains. \u201cI was intrigued. Knowing that they\u2019d developed this way of cloning sheep got me excited about molecular biology. The experimental research I pursued there inspired me, and later led me to study computational biology with a molecular biology angle. It was a fascinating and helpful time.\u201d<\/p>\n\n\n\n<p>Both computational and more traditional lab research now happen side by side in <a href=\"http:\/\/www.embl.de\/research\/units\/genome_biology\/korbel\/index.html\" target=\"_blank\" rel=\"noopener noreferrer\">Korbel\u2019s lab<\/a> at EMBL. \u201cThat\u2019s getting more common, because nearly all laboratories need some level of computational expertise now,\u201d he explains, \u201calthough often you\u2019ll have experimental labs bringing in people from the computational side. For me, it was the other way round: initially, most of my research came from a computational angle, but I was always close to experimental researchers and I was lucky because I got the right people in my lab. It now feels very natural for us to combine the two approaches.\u201d<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Shattering chromosomes<\/h3>\n\n\n\n<p>Korbel\u2019s research focuses on structural variation in the human genome: that is, how our DNA rearranges \u2013 a process that occurs dynamically and has implications for ageing and diseases, including cancer. One area of study is a process the Korbel group co-discovered, known as chromothripsis, or \u2018chromosome shattering\u2019. In this process, a chromosome undergoes multiple structural rearrangements in a single catastrophic event. Korbel and his lab have been working to uncover the molecular processes by which chromothripsis occurs. It had previously been thought that the development of cancer was a process of gradual changes, but the discovery of chromothripsis showed that these gradual processes can also be punctuated by sudden large changes, in which many mutations critical for cancer development can happen all at once.<\/p>\n\n\n\n<p>\u201cIntriguingly, when chromothripsis occurs in cancer it\u2019s nearly always one of the earliest mutations. That implies that there might be certain selective boundaries, where cells need massive changes before they can develop into tumours,\u201d explains Korbel. \u201cWe believe chromothripsis is a very strong facilitator of that process.\u201d<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Finding a theme<\/h3>\n\n\n\n<p>Korbel is now one of the leaders of the <a href=\"http:\/\/docs.icgc.org\/pcawg\/\">Pan-Cancer Analysis of Whole Genomes<\/a> project, which aims to identify common patterns of mutation among more than 2,600 whole genomes taken from various types of cancer. At the European Association for Cancer Research (EACR) Congress in July, he will receive the <a href=\"http:\/\/www.eacr.org\/cancer-researcher-award\" target=\"_blank\" rel=\"noopener noreferrer\">Pezcoller Foundation-EACR Cancer Researcher Award<\/a>, which is presented every two years to a researcher who\u2019s made important contributions to the field of cancer research.<\/p>\n\n\n\n<p>\u201cIt\u2019s a huge honour for me, because it recognises the work of my group that started here at EMBL, and acknowledges that within our network of collaborators we were able to develop our own research theme, around how genomes rearrange in cancer,\u201d says Korbel. \u201cIt\u2019s a very strong motivation for us to continue pursuing this vital area of research.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"<p>EMBL group leader Jan Korbel reflects on his scientific origins and current research<\/p>\n","protected":false},"author":45,"featured_media":13484,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[2,17591],"tags":[149,38,535,577,576,189,537,626,41,496,43,420],"embl_taxonomy":[],"class_list":["post-13023","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science","category-science-technology","tag-award","tag-cancer","tag-chromosome","tag-chromosome-dynamics","tag-chromosome-structure","tag-computational-biology","tag-dna","tag-genetic-risk-factor","tag-genetics","tag-genome-biology","tag-heidelberg","tag-korbel"],"acf":{"article_intro":"<p>EMBL group leader Jan Korbel reflects on his scientific origins and current research<\/p>\n","related_links":[{"link_description":"Korbel group","link_url":"http:\/\/www.embl.de\/research\/units\/genome_biology\/korbel\/index.html"},{"link_description":"More stories from the Korbel group","link_url":"http:\/\/news.embl.de\/tag\/korbel\/"},{"link_description":"Pezcoller Foundation-EACR Cancer Researcher Award","link_url":"http:\/\/www.eacr.org\/cancer-researcher-award"},{"link_description":"Pan-Cancer Analysis of Whole Genomes project","link_url":"http:\/\/docs.icgc.org\/pcawg\/"}],"article_sources":false,"vf_locked":false,"featured":false,"color":"#007B53","show_featured_image":false,"source_article":false,"in_this_article":false,"press_contact":"None"},"embl_taxonomy_terms":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Exploring genetic variation | EMBL<\/title>\n<meta name=\"description\" content=\"EMBL group leader Jan Korbel reflects on his origins as a scientist and his current research into genome structural variation and its role in diseases like cancer.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, 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