{"id":1427,"date":"2018-11-22T18:11:00","date_gmt":"2018-11-22T18:11:00","guid":{"rendered":"https:\/\/coolblues.bcmultistaging.wpenginepowered.com\/?p=1427"},"modified":"2026-01-20T18:05:36","modified_gmt":"2026-01-20T18:05:36","slug":"step-forward-worldwide-effort-create-diagnostic-test-fasd","status":"publish","type":"post","link":"https:\/\/www.bcchr.ca\/kobor-lab\/2018\/11\/22\/step-forward-worldwide-effort-create-diagnostic-test-fasd\/","title":{"rendered":"A step forward in a worldwide effort to create a diagnostic test for FASD"},"content":{"rendered":"<p class=\"fndry-paragraph fndry-text-intro22\">When it comes to fetal alcohol syndrome disorder (FASD), the math is clear: early diagnosis + early treatment = best possible outcomes.<\/p>\n\n<p class=\"fndry-paragraph\">Unfortunately, for many kids with FASD, that\u2019s not quite how the equation adds up. Three per cent of Canadian kids have FASD and most won\u2019t be diagnosed until they are in elementary school, when their behaviour and learning challenges set them apart from their peers &#8211; and when therapies start becoming less and less effective.<\/p>\n\n\n<div class=\"wp-block-media-text has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<p class=\"wp-block-paragraph\">Researchers at BC Children\u2019s Hospital are leading efforts to change all of that. In a study published in&nbsp;<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5767049\/\"><em>Clinical Epigenetics<\/em><\/a>,&nbsp;<a href=\"https:\/\/www.bcchr.ca\/research\/find-a-researcher\/michael-steffen-kobor\/\">Dr. Michael Kobor<\/a>&nbsp;and his colleagues identified a series of distinctive changes in DNA methylation \u2013 a chemical modification to the DNA that can affect how genes are regulated &#8211; that seems to be associated with FASD. Pinpointing these unique patterns brings researchers closer to creating a simple test that could help to diagnose FASD faster and earlier in life.&nbsp;<\/p>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"500\" height=\"500\" src=\"https:\/\/www.bcchr.ca\/kobor-lab\/files\/2025\/01\/Kobor-Michael-March-2017.jpg\" alt=\"\" class=\"wp-image-2035 size-full\" srcset=\"https:\/\/www.bcchr.ca\/kobor-lab\/files\/2025\/01\/Kobor-Michael-March-2017.jpg 500w, https:\/\/www.bcchr.ca\/kobor-lab\/files\/2025\/01\/Kobor-Michael-March-2017-300x300.jpg 300w, https:\/\/www.bcchr.ca\/kobor-lab\/files\/2025\/01\/Kobor-Michael-March-2017-150x150.jpg 150w\" sizes=\"(max-width: 500px) 100vw, 500px\" \/><\/figure><\/div>\n\n\n<p class=\"fndry-paragraph\"><br>In 2016, Dr. Kobor garnered international attention by leading\u00a0<a href=\"https:\/\/www.bcchr.ca\/news\/discovery-epigenetic-patterns-associated-fetal-alcohol-spectrum-disorder-could-be-first-step\">an initial study of DNA from children with FASD<\/a>. Dr. Kobor and co-author\u00a0<a href=\"https:\/\/www.bcchr.ca\/research\/find-a-researcher\/elodie-portales-casamar\/\">Dr. Elodie Portales-Casamar<\/a>, BC Children\u2019s investigator, looked at the epigenetic level\u2014the changes that can happen to our genes as a result of our environments before and after birth. He specifically looked at one epigenetic process called DNA methylation.\u00a0<\/p>\n\n<p class=\"fndry-paragraph\">\u201cDNA methylation works like a dimmer switch on specific genes,\u201d Dr. Kobor explains. \u201cIt turns some down, and it turns some up. In the case of FASD, prenatal exposure to alcohol affects the pattern of DNA methylation in the baby\u2019s cells. It leaves behind distinct patterns that we may be able to test for one day.\u201d<\/p>\n\n<p class=\"fndry-paragraph\">FASD results from exposure to alcohol in the womb and encompasses a range of symptoms including problems with memory, learning behaviour and social skills. If children are identified early \u2013 before age three \u2013 behavioural interventions are often effective at teaching them skills and strategies to manage their symptoms. Early diagnosis also means better access to support such as counselling and respite care.<\/p>\n\n<p class=\"fndry-paragraph\">Dr. Kobor says this latest study builds off his 2016 study by using a different group of DNA samples to replicate the initial results. &nbsp;<\/p>\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p class=\"wp-block-paragraph\"><\/p>\n<\/blockquote>\n\n\n<div  class=\"fndry-container fndry-responsive-bg fndry-responsive-border fndry-pt--3 fndry-pb--3 fndry-pr--md-1 fndry-pl--md-1 fndry-pt--sm-0 fndry-pb--sm-0 fndry-mt--sm-3 fndry-mb--sm-3\">\n\t<div class=\"fndry-row\">\n\t<div  class=\"fndry-col fndry-responsive-bg fndry-col--12 fndry-col--sm-12 fndry-col--md-12 fndry-pl--sm-0\">\n\t<div  class=\"fndry-container fndry-responsive-bg fndry-responsive-border fndry-pt--3 fndry-pr--3 fndry-pb--3 fndry-pl--3 fndry-pt--sm-2 fndry-pr--sm-2 fndry-pb--sm-2 fndry-pl--sm-2\" style=\"--fndry-bg:var(--fndry-color-light)\">\n\t<figure  class=\"fndry-quote fndry-quote--left\">\n\t<blockquote class=\"fndry-quote__quote\">\n\t\t<p class=\"fndry-text-intro22\">\u201cOur first study was a major leap forward\u2014it was the biggest human study of FASD to date. To be able to replicate those findings, to validate them, is very significant.\u201d<\/p>\t<\/blockquote>\n\t<figcaption  class=\"fndry-quote__citation\">\n\t\t&#8211; Dr. Michael Kobor\t<\/figcaption>\n<\/figure><\/div>\n<\/div>\n<\/div><\/div>\n\n\n<p class=\"fndry-paragraph\">\u201cOur first study was a major leap forward\u2014it was the biggest human study of FASD to date,&#8221; says Dr. Kobor. &#8220;To be able to replicate those findings, to validate them, is very significant. Very few findings are replicated to this extent, with DNA we had not looked at before.\u201d<\/p>\n\n<p class=\"fndry-paragraph\">In this recent study, Dr. Kobor\u2019s team used a complex statistical analysis program to classify the patterns they observed in these distinct genetic markings. This kind of computer analysis, called machine learning, is most powerful with large data sets.<\/p>\n\n<p class=\"fndry-paragraph\">To date, Dr. Kobor\u2019s team has tested hundreds of DNA samples. The program will be even more effective with thousands.\u00a0<\/p>\n\n<p class=\"fndry-paragraph\">\u201cOur studies only used samples from Canadian populations. To get results that are more meaningful we need larger and more diverse population groups. Now, researchers around the world are setting out to replicate our findings with their own populations. The hope is to combine all this data and get more precise signatures and one day, a reliable biomarker,\u201d says Dr. Kobor.&nbsp;<\/p>\n\n<p class=\"fndry-paragraph\">Dr. Kobor\u2019s research approach is already being used with US samples. Plans are underway for a similar project in Australia and he will soon share his work with researchers in Europe and South Africa.&nbsp;<\/p>\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p class=\"wp-block-paragraph\"><\/p>\n<\/blockquote>\n\n\n<div  class=\"fndry-container fndry-responsive-bg fndry-responsive-border fndry-pt--3 fndry-pb--3 fndry-pr--md-1 fndry-pl--md-1 fndry-pt--sm-0 fndry-pb--sm-0 fndry-mt--sm-3 fndry-mb--sm-3\">\n\t<div class=\"fndry-row\">\n\t<div  class=\"fndry-col fndry-responsive-bg fndry-col--12 fndry-col--sm-12 fndry-col--md-12 fndry-pl--sm-0\">\n\t<div  class=\"fndry-container fndry-responsive-bg fndry-responsive-border fndry-pt--3 fndry-pr--3 fndry-pb--3 fndry-pl--3 fndry-pt--sm-2 fndry-pr--sm-2 fndry-pb--sm-2 fndry-pl--sm-2\" style=\"--fndry-bg:var(--fndry-color-light)\">\n\t<figure  class=\"fndry-quote fndry-quote--left\">\n\t<blockquote class=\"fndry-quote__quote\">\n\t\t<p class=\"fndry-text-intro22\">\u201cThere is a real movement worldwide to embrace the opportunities we have with epigenetics and DNA methylation to better understand FASD. I\u2019m pleased and proud that our team is at the forefront; that our research is the root of next-generation efforts towards a possible breakthrough in this condition.\u201d\u00a0<\/p>\t<\/blockquote>\n\t<figcaption  class=\"fndry-quote__citation\">\n\t\t&#8211; Dr. Michael Kobor\t<\/figcaption>\n<\/figure><\/div>\n<\/div>\n<\/div><\/div>\n\n\n<p class=\"fndry-paragraph\">\u201cThere is a real movement worldwide to embrace the opportunities we have with epigenetics and DNA methylation to better understand FASD,\u201d says Dr. Kobor. \u201cI\u2019m pleased and proud that our team is at the forefront; that our research is the root of next-generation efforts towards a possible breakthrough in this condition.\u201d\u00a0For Dr. Kobor, epigenetics holds promise beyond new diagnostic tests. \u201cEpigenetic changes are more complicated to unravel than genetic mutations. There is a lot more malleability \u2013 and perhaps more potential for intervention.\u201d<\/p>\n\n<p class=\"fndry-paragraph\">Dr. Kobor says the children he meets motivate his FASD research. \u201cEarly interventions show great promise and can make a huge difference. I hope this complex DNA work can one day help kids.\u201d<\/p>\n\n<p class=\"fndry-paragraph\">He is also grateful to the families who generously participate in his studies. &nbsp;\u201cThey often go out on a limb for us so it\u2019s really important to keep them in mind when we are working in isolation in the lab. We need to respect their concerns and not stigmatize them; we need to work hard to help them.\u201d&nbsp;<\/p>\n\n<p class=\"fndry-paragraph\">To that end, Dr. Kobor\u2019s Sunny Hill BC Leadership Program is planning follow-up focus groups with families living with FASD, as well as with medical personnel, educators, and other professionals who provide support to families and children with FASD, to talk about the epigenetic research and address any concerns they may have.&nbsp;<\/p>\n\n<p class=\"fndry-paragraph\">Dr. Kobor is also inspired by the late Clyde Hertzman, whose picture sits on Kobor\u2019s desk. Hertzman founded the Human Early Learning Partnership at UBC.<\/p>\n\n<p class=\"fndry-paragraph\">\u201cHe was a strong advocate for the rights of children and the first in Canada to think about the continuum from cell to society,\u201d says Dr. Kobor. It\u2019s my hope that if we can provide hard scientific evidence for the impact of early-life experience on our DNA that may push our society to do something for vulnerable children.\u201d<\/p>\n\n<p class=\"fndry-paragraph\"><em>Dr. Michael Kobor is an investigator at BC Children\u2019s Hospital and the Centre for Molecular Medicine and Therapeutics, a professor in the Department of Medical Genetics at the University of British Columbia, the Tier 1 Canada Research Chair in Social Epigenetics and the Sunny Hill BC Leadership Chair in Child Development.<\/em><\/p>\n\n<p class=\"fndry-paragraph\"><em>Dr. Elodie Portales-Casamar is an investigator at BC Children\u2019s and a clinical assistant professor in the UBC Department of Pediatrics.<br>&nbsp;<br>This research is supported by the Kids Brain Health Network, a Canadian Network of Centres for Excellence and BC Children\u2019s Hospital Foundation.&nbsp;<\/em><\/p>","protected":false},"excerpt":{"rendered":"<p>When it comes to fetal alcohol syndrome disorder (FASD), the math is clear: early diagnosis + early treatment = best possible outcomes.<\/p>\n","protected":false},"author":2,"featured_media":2236,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"","_lmt_disable":"","inline_featured_image":false,"footnotes":"","fndry_alternate_title":""},"categories":[10],"tags":[],"class_list":["post-1427","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news"],"modified_by":"Andrea Sakamoto","_links":{"self":[{"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/posts\/1427","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/comments?post=1427"}],"version-history":[{"count":4,"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/posts\/1427\/revisions"}],"predecessor-version":[{"id":2243,"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/posts\/1427\/revisions\/2243"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/media\/2236"}],"wp:attachment":[{"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/media?parent=1427"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/categories?post=1427"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.bcchr.ca\/kobor-lab\/wp-json\/wp\/v2\/tags?post=1427"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}