{"id":5310,"date":"2021-04-28T17:49:38","date_gmt":"2021-04-28T16:49:38","guid":{"rendered":"http:\/\/med.st-andrews.ac.uk\/medicine\/?p=5310"},"modified":"2021-04-28T17:49:38","modified_gmt":"2021-04-28T16:49:38","slug":"phd-student-publishes-new-paper","status":"publish","type":"post","link":"https:\/\/medicine.st-andrews.ac.uk\/news\/phd-student-publishes-new-paper\/","title":{"rendered":"PhD student publishes new paper"},"content":{"rendered":"

\"\"The School of Medicine sends a big congratulations to<\/span> PhD student<\/span>, Angela Martinelli,<\/span> who <\/span>recently published <\/span>a paper, based on her PhD thesis<\/span>,<\/span> in <\/span>the <\/span>Human Molecular Genetics<\/span> j<\/span>ournal<\/span>. The study <\/span>focused on <\/span>developmental language disorder, diagnosed when children show unexpected <\/span>problems<\/span> with<\/span> expressing and understanding spoken language. This is a common condition, with studies suggesting that at least 5% of children experience<\/span> difficulties, <\/span>often co-<\/span>occurring<\/span> with other neurodevelopmental disorders such as dyslexia and ADHD.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u00a0<\/span><\/p>\n

The<\/span> study identified <\/span>a rare non-synonymous variant in <\/span>ATP2C2<\/span><\/i>, a gene<\/span> that <\/span>was <\/span>previously implicated in<\/span> language disorders<\/span>. <\/span>Th<\/span>e variant<\/span> was discovered <\/span>as a result of<\/span> ongoing exome sequencing stud<\/span>ies,<\/span> conducted <\/span>as part of an international collaboration of researchers.<\/span> Angela <\/span>followed up on<\/span> this finding by genotyping<\/span> the variant<\/span> in <\/span>large cohorts of individuals diagnosed with <\/span>language-related<\/span> disorders<\/span>. The study unc<\/span>overed<\/span> that t<\/span>he <\/span>variant<\/span> increase<\/span>d<\/span> the risk for <\/span>language impairment<\/span> in clinical samples<\/span>. Furthermore, carriers of the variant in the general population tend to have lower scores on language-related tests.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u00a0<\/span><\/p>\n

Dr Martinelli said that \u201c<\/span>the University of St<\/span>.<\/span> Andrews offered the <\/span>opportunity to work in a very stimulating environment<\/span>, <\/span>acquire a competitive international profile<\/span>, <\/span>develop new professional skills<\/span>,<\/span> and interact with outstanding researchers<\/span>\u201d. She added that the outcome of her thesis <\/span>was<\/span> a result of a wonderful collaboration with researchers across the world. <\/span>Angela <\/span>thanked<\/span> her <\/span>PhD supervisor, <\/span>Dr <\/span>Silvia Para<\/span>c<\/span>chin<\/span>i<\/span>, stating that <\/span>she is very grateful for the valuable support and advice<\/span> provided<\/span> throughout her study.\u00a0<\/span>\u00a0<\/span><\/p>\n

Dr<\/span> Paracchini <\/span>said that she is \u201c<\/span>really pleased to see this paper published, <\/span>a<\/span>s<\/span> the culmination of <\/span>a<\/span> few years of <\/span>hard <\/span>work! Angela <\/span>demonstrated massive commitment to this<\/span> project, <\/span>particularly in the context of the challenges that COVID-19 and lockdown presented. <\/span>Th<\/span>e study<\/span> highlights how complex the genetics of language disorders is and <\/span>that<\/span> cross-disciplinary and international collaborations are necessary to advance the field. Although we miss Angela in the lab<\/span>, we wish her every success in her future career\u201d.\u00a0<\/span>\u00a0<\/span><\/p>\n

The study was published on the 16<\/span>th<\/span> of April<\/span>. It <\/span>was supported\u202fby an Act ion Medical Research Action\/The Chief Scientist Office (CSO), Scotland grant (GN2614) and a Cunningham Trust grant<\/span>\u00a0<\/span><\/p>\n

https:\/\/academic.oup.com\/hmg\/advance-article\/doi\/10.1093\/hmg\/dda<\/span>b111\/6230988<\/span><\/a>\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

The School of Medicine sends a big congratulations to PhD student, Angela Martinelli, who recently published a paper, based on her PhD thesis, in the Human Molecular Genetics journal. The study focused on developmental language disorder, diagnosed when children show unexpected problems with expressing and understanding spoken language. This is a common condition, with studies…<\/p>\n","protected":false},"author":39,"featured_media":5311,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[3,10,1],"tags":[39,109,257,295,397,423],"class_list":["post-5310","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cmed","category-news","category-uncategorised","tag-adhd","tag-atp2c2","tag-developmental-language-disorder","tag-dr-angela-martinelli","tag-dr-silvia-paracchini","tag-dyslexia"],"publishpress_future_action":{"enabled":false,"date":"2026-05-07 21:54:00","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/medicine.st-andrews.ac.uk\/news\/wp-json\/wp\/v2\/posts\/5310","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medicine.st-andrews.ac.uk\/news\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medicine.st-andrews.ac.uk\/news\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medicine.st-andrews.ac.uk\/news\/wp-json\/wp\/v2\/users\/39"}],"replies":[{"embeddable":true,"href":"https:\/\/medicine.st-andrews.ac.uk\/news\/wp-json\/wp\/v2\/comments?post=5310"}],"version-history":[{"count":0,"href":"https:\/\/medicine.st-andrews.ac.uk\/news\/wp-json\/wp\/v2\/posts\/5310\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medicine.st-andrews.ac.uk\/news\/wp-json\/wp\/v2\/media\/5311"}],"wp:attachment":[{"href":"https:\/\/medicine.st-andrews.ac.uk\/news\/wp-json\/wp\/v2\/media?parent=5310"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medicine.st-andrews.ac.uk\/news\/wp-json\/wp\/v2\/categories?post=5310"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medicine.st-andrews.ac.uk\/news\/wp-json\/wp\/v2\/tags?post=5310"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}