{"id":355,"date":"2020-08-28T13:00:23","date_gmt":"2020-08-28T01:00:23","guid":{"rendered":"https:\/\/blogs.otago.ac.nz\/go\/?p=355"},"modified":"2020-08-27T10:26:34","modified_gmt":"2020-08-26T22:26:34","slug":"keeping-people-at-the-forefront-of-medical-genetics","status":"publish","type":"post","link":"https:\/\/blogs.otago.ac.nz\/go\/keeping-people-at-the-forefront-of-medical-genetics\/","title":{"rendered":"Keeping People at the Forefront of Medical Genetics"},"content":{"rendered":"

\"\"<\/a><\/p>\n

Discovering two of the three genetic variants implicated in a rare disease has been a particular career highlight for Otago medical researcher Emma Wade. Yet meeting and talking with the patients who benefit from her work is even more special.<\/p>\n

\u201cAll our projects start with people,\u201d<\/em> Emma says. \u201cThey start with people and they end with people.\u201d<\/em><\/p><\/blockquote>\n

This human element is hugely important to the Manchester-born geneticist, whose PhD project at Otago focused on a rare genetic disease, Frontometaphyseal Dysplasia (FMD), that causes life-limiting bone deformities. Despite this condition\u2019s rarity, Emma\u2019s research has much broader medical applications.<\/p>\n

\u201cWe still don\u2019t understand large swathes of the [human] genome,\u201d she explains. \u201cBut we\u2019re slowly developing methods to find out. What we learn from rare diseases can then help more widely.\u201d<\/em><\/p>\n

Emma\u2019s also become much more \u201ccomputer savvy\u201d to deal with the \u201chuge amount of information on what genes do\u201d – a far cry from what sparked her original childhood interest in popular science.<\/p>\n

\"\"<\/a><\/p>\n

\u201cI was just fascinated by how we usually turn out okay when there\u2019s so much that could go wrong,\u201d<\/em> she recalls. \u201cThen there was a big anthrax scare that got me really interested in infectious diseases.\u201d<\/em><\/p>\n

This fascination led to a degree in genetics at the University of York in England, which incorporated a year in a cystic fibrous laboratory in the Scottish capital, Edinburgh.<\/p>\n

\u201cI got a taste of genetic disease research and of academia, and the strong clinical link to actual patients was really valuable.\u201d<\/em><\/p>\n

 <\/p>\n

So when the opportunity arose to combine this all in a PhD at Otago, heading to the \u2018Edinburgh of the South\u2019 was a no-brainer.<\/p>\n

As for her own ground-breaking genetic discoveries: \u201cSeeing a paper published was really good. I thought, \u2018this is actually quite cool\u2019.\u201d<\/em><\/p>\n

Even more cool was the \u201creally good talk\u201d she then had with an Australian patient with FMD.<\/p>\n

\u201cHe showed me that they were discussing my research in a Facebook support group.\u201d<\/em><\/p>\n

Now a postdoctoral fellow in Professor Stephen Robertson\u2019s Clinical Genetics Laboratory at Otago, Emma\u2019s part of a team working with patients and fellow researchers from all over the world.<\/p>\n

\u201cThe gene we work on is really interesting, mutations can cause about ten different disorders,\u201d she says. \u201cWe don\u2019t yet know everything it does, but it has implications all over the body.\u201d<\/em><\/p>\n

 <\/p>\n

Written by Mick Whittle, images provided by Emma Wade.<\/p>\n","protected":false},"excerpt":{"rendered":"

Discovering two of the three genetic variants implicated in a rare disease has been a particular career highlight for Otago medical researcher Emma Wade. Yet meeting and talking with the patients who benefit from her work is even more special. \u201cAll our projects start with people,\u201d Emma says. \u201cThey start with people and they end […]<\/p>\n","protected":false},"author":37560,"featured_media":0,"comment_status":"open","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":[],"tags":[],"class_list":["post-355","post","type-post","status-publish","format-standard","hentry"],"_links":{"self":[{"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/posts\/355","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/users\/37560"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/comments?post=355"}],"version-history":[{"count":0,"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/posts\/355\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/media?parent=355"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/categories?post=355"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/tags?post=355"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}