{"id":6360,"date":"2026-10-19T09:48:49","date_gmt":"2026-10-19T09:48:49","guid":{"rendered":"https:\/\/phd.hi.is\/doktorsvorn\/doktorsvorn-i-lif-og-laeknavisindum-gudny-anna-arnadottir\/"},"modified":"2026-10-19T09:48:49","modified_gmt":"2026-10-19T09:48:49","slug":"doktorsvorn-i-lif-og-laeknavisindum-gudny-anna-arnadottir","status":"publish","type":"phd_defence","link":"https:\/\/phd.hi.is\/en\/doktorsvorn\/doktorsvorn-i-lif-og-laeknavisindum-gudny-anna-arnadottir\/","title":{"rendered":"Doktorsv\u00f6rn \u00ed l\u00edf- og l\u00e6knav\u00edsindum – Gu\u00f0n\u00fd Anna \u00c1rnad\u00f3ttir"},"content":{"rendered":"
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\u00deri\u00f0judaginn 16. apr\u00edl 2024 ver Gu\u00f0n\u00fd Anna \u00c1rnad\u00f3ttir doktorsritger\u00f0 s\u00edna \u00ed l\u00edf- og l\u00e6knav\u00edsindum vi\u00f0 L\u00e6knadeild H\u00e1sk\u00f3la \u00cdslands. Ritger\u00f0in ber heiti\u00f0: Notkun ra\u00f0greiningargagna til a\u00f0 finna erf\u00f0afr\u00e6\u00f0ilegar orsakir \u00f3\u00fatsk\u00fdr\u00f0ra sjaldg\u00e6fra sj\u00fakd\u00f3ma og f\u00f3sturl\u00e1ta. Using whole-genome sequence data to discover causes of unexplained rare diseases and miscarriage.<\/p>\n

Andm\u00e6lendur eru dr. Hilary Martin, h\u00f3pstj\u00f3ri vi\u00f0 Sanger Center \u00ed Bretlandi, og dr. Stylianos Antonarakis, pr\u00f3fessor emeritus vi\u00f0 University of Geneva Medical School \u00ed Sviss.<\/p>\n

Umsj\u00f3narkennari var Hans T\u00f3mas Bj\u00f6rnsson og lei\u00f0beinandi var Unnur \u00deorsteinsd\u00f3ttir pr\u00f3fessor. Auk \u00feeirra s\u00e1tu Patrick Sulem, H\u00e1kon J\u00f3nsson og Dan\u00edel Gu\u00f0bjartsson \u00ed doktorsnefnd.<\/p>\n

Dr. \u00de\u00f3rarinn Gu\u00f0j\u00f3nsson, pr\u00f3fessor og deildarforseti L\u00e6knadeildar, stj\u00f3rnar ath\u00f6fninni sem fer fram \u00ed H\u00e1t\u00ed\u00f0asal H\u00e1sk\u00f3la \u00cdslands og hefst kl. 13.00.<\/p>\n

\u00c1grip<\/strong><\/p>\n

\u00de\u00f3 svo a\u00f0 Mendelskir sj\u00fakd\u00f3mar s\u00e9u \u00e1litnir sjaldg\u00e6fir \u00e1 einstaklingsgrunni eru samleg\u00f0ar\u00e1hrif \u00feeirra t\u00f6luver\u00f0. Greiningarferli Mendelskra sj\u00fakd\u00f3ma getur veri\u00f0 erfitt og alvarleikinn \u00e1 brei\u00f0u r\u00f3fi. \u00deeir geta komi\u00f0 fram \u00e1 fullor\u00f0insaldri, veri\u00f0 me\u00f0f\u00e6ddir e\u00f0a jafnvel valdi\u00f0 f\u00f3sturl\u00e1ti. N\u00fdleg fram\u00fer\u00f3un \u00ed ra\u00f0greiningart\u00e6kni hefur lagt sitt af m\u00f6rkum til a\u00f0 draga \u00far greiningarerfi\u00f0leikum, en \u00fe\u00f3 eru margir sjaldg\u00e6fir sj\u00fakd\u00f3mar enn \u00f3\u00fatsk\u00fdr\u00f0ir.<\/p>\n

\u00cd \u00feessari ranns\u00f3kn voru ra\u00f0greiningarg\u00f6gn fr\u00e1 meira en 50.000 \u00cdslendingum og um 1.500 D\u00f6num n\u00fdtt til a\u00f0 finna orsakir \u00e1\u00f0ur \u00f3\u00fatsk\u00fdr\u00f0ra sjaldg\u00e6fra sj\u00fakd\u00f3ma og f\u00f3sturl\u00e1ta. \u00cd ranns\u00f3kninni var n\u00fd ors\u00f6k sjaldg\u00e6fa v\u00edkjandi sj\u00fakd\u00f3msins CGD (e. chronic granulomatous disease) uppg\u00f6tvu\u00f0. \u00dear var s\u00fdnt fram \u00e1 a\u00f0 skortur \u00e1 CYBC1 pr\u00f3teini lei\u00f0ir til CGD-l\u00edkrar svipger\u00f0ar hj\u00e1 einstaklingum sem eru arfhreinir fyrir st\u00f6kkbreytingu sem veldur tapi \u00e1 virkni pr\u00f3teinsins. Me\u00f0 \u00feessa ni\u00f0urst\u00f6\u00f0u a\u00f0 lei\u00f0arlj\u00f3si var skortur \u00e1 arfhreinum mislestursbreytingum kanna\u00f0ur \u00ed st\u00f3rum \u00edslenskum arfger\u00f0argrunni, sem leiddi \u00ed lj\u00f3s a\u00f0 h\u00e6gt er a\u00f0 nota skort sl\u00edkra arfger\u00f0a til a\u00f0 bera kennsl \u00e1 \u00e1\u00f0ur \u00f3\u00fatsk\u00fdr\u00f0a v\u00edkjandi sj\u00fakd\u00f3ma og f\u00f3sturl\u00e1t. \u00deessi a\u00f0fer\u00f0 var notu\u00f0 til a\u00f0 s\u00fdna fram \u00e1 a\u00f0 arfhreinar mislestursbreytingar \u00ed CPSF3 geninu valda \u00e1\u00f0ur \u00f3\u00fatsk\u00fdr\u00f0ri tauga\u00feroskar\u00f6skun.<\/p>\n

A\u00f0 lokum var ranns\u00f3knin \u00fatv\u00edkku\u00f0 til a\u00f0 kanna hlutverk sj\u00fakd\u00f3msvaldandi eingena arfger\u00f0a \u00ed snemmb\u00fanum f\u00f3sturl\u00e1tum. \u00cd einu f\u00f3sturl\u00e1tanna fannst arfhreinn breytileiki sem s\u00fdnir annars umtalsver\u00f0an skort \u00e1 arfhreinum arfger\u00f0um \u00ed st\u00f3rum vi\u00f0mi\u00f0unargagnasettum. Einnig fannst aukin t\u00ed\u00f0ni \u00e1 sj\u00fakd\u00f3msvaldandi eingena arfger\u00f0um \u00ed f\u00f3sturl\u00e1tunum og \u00feannig var sta\u00f0fest hlutverk \u00feeirra \u00ed snemmb\u00fanum f\u00f3sturl\u00e1tum.<\/p>\n

Abstract<\/strong><\/p>\n

Although individually, Mendelian disorders are considered rare, collectively they make up a large group of individuals requiring diagnosis and treatment. The diagnostic process can be difficult, and these disorders can have a wide range in severity, from adult-onset diseases to pre- or neonatal onset, or even miscarriage. Recent advances in sequencing technologies have contributed heavily to resolution of the overall diagnostic odyssey, but many rare diseases remain unexplained.<\/p>\n

In this study, whole-genome sequence data from more than 50,000 Icelanders and about 1,500 Danish individuals were used to identify causes of previously unexplained rare diseases and miscarriage. In the study, a novel cause of the rare recessive disease chronic granulomatous disease (CGD) was discovered. The study demonstrated that lack of the CYBC1 protein leads to a CGD-like phenotype in individuals who are homozygous for a loss-of-function variant in CYBC1. Guided by this finding, the deficit of homozygous missense variants was investigated in a large Icelandic genotype database, revealing that a deficit of such genotypes can be used to identify previously unexplained recessive diseases and miscarriages. Using this approach, homozygous missense variants in the CPSF3 gene were identified as the cause of a previously unexplained neurodevelopmental disease.<\/p>\n

The study was then expanded to investigate the role of single-gene variants in miscarriage. One of the miscarriage samples was found to carry a genotype with an extreme deficit of homozygosity, and an overall enrichment of pathogenic single-gene variants was found among the miscarriage samples, thus confirming the contribution of single-gene variants to early pregnancy loss.<\/p>\n

Um doktorsefni\u00f0<\/strong><\/p>\n

Gu\u00f0n\u00fd Anna \u00c1rnad\u00f3ttir er f\u00e6dd \u00e1ri\u00f0 1988 \u00ed Reykjav\u00edk. H\u00fan lauk BSc-pr\u00f3fi \u00ed efnaverkfr\u00e6\u00f0i fr\u00e1 H\u00e1sk\u00f3la \u00cdslands \u00e1ri\u00f0 2012 og var\u00f0i einu \u00e1ri af grunnn\u00e1minu vi\u00f0 H\u00e1sk\u00f3lann \u00ed Granada. H\u00fan lauk MSc-pr\u00f3fi \u00ed heilbrig\u00f0isverkfr\u00e6\u00f0i og l\u00edfuppl\u00fdsingafr\u00e6\u00f0i fr\u00e1 H\u00e1sk\u00f3lanum \u00ed Reykjav\u00edk \u00e1ri\u00f0 2014. Fr\u00e1 \u00e1rinu 2014 hefur Gu\u00f0n\u00fd starfa\u00f0 hj\u00e1 \u00cdslenskri erf\u00f0agreiningu, \u00fear sem h\u00fan hefur fengist vi\u00f0 kl\u00edn\u00edska ra\u00f0greiningu og unni\u00f0 a\u00f0 ranns\u00f3knum. Hausti\u00f0 2019 h\u00f3f h\u00fan doktorsn\u00e1m vi\u00f0 H\u00e1sk\u00f3la \u00cdslands og hefur s\u00ed\u00f0an \u00fe\u00e1 unni\u00f0 a\u00f0 doktorsverkefninu me\u00f0fram vinnu. Gu\u00f0n\u00fd er gift Birni Atla Dav\u00ed\u00f0ssyni l\u00f6gmanni og saman eiga \u00feau tv\u00e6r d\u00e6tur, S\u00f3lr\u00fanu Birnu og Bergd\u00edsi.<\/p>\n<\/div><\/div>","protected":false},"featured_media":5680,"template":"","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"_phd_date_start":"2024-04-16T13:00:00+00:00","_phd_date_end":"2024-04-16T16:00:00+00:00","_phd_location":"A\u00f0albygging H\u00e1t\u00ed\u00f0asalur","_phd_admission":"A\u00f0gangur \u00f3keypis","_phd_thesis_title":"Notkun ra\u00f0greiningargagna til a\u00f0 finna erf\u00f0afr\u00e6\u00f0ilegar orsakir \u00f3\u00fatsk\u00fdr\u00f0ra sjaldg\u00e6fra sj\u00fakd\u00f3ma og f\u00f3sturl\u00e1ta. 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