{"id":6369,"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-tinna-reynisdottir\/"},"modified":"2026-10-19T09:48:49","modified_gmt":"2026-10-19T09:48:49","slug":"doktorsvorn-i-lif-og-laeknavisindum-tinna-reynisdottir","status":"publish","type":"phd_defence","link":"https:\/\/phd.hi.is\/en\/doktorsvorn\/doktorsvorn-i-lif-og-laeknavisindum-tinna-reynisdottir\/","title":{"rendered":"Doktorsv\u00f6rn \u00ed l\u00edf- og l\u00e6knav\u00edsindum &#8211; Tinna Reynisd\u00f3ttir"},"content":{"rendered":"<div class=\"field-items\">\n<div class=\"field-item even\" property=\"content:encoded\">\n<p>Fimmtudaginn 24. okt\u00f3ber 2024 ver Tinna Reynisd\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:<strong> Undirliggjandi sj\u00fakd\u00f3msmyndun og \u00e1kv\u00f6r\u00f0un m\u00f3tanleika tauga-svipger\u00f0ar \u00ed Wiedemann-Steiner heilkenni. Mechanistic basis and evaluation of neurological malleability of Wiedemann-Steiner syndrome. <\/strong><\/p>\n<p>Andm\u00e6lendur eru dr. Shigeki Iwase, d\u00f3sent vi\u00f0 University of Michigan \u00ed Bandar\u00edkjunum, og dr. Andrew Mccallion, pr\u00f3fessor vi\u00f0 Johns Hopkins University \u00ed Bandar\u00edkjunum.<\/p>\n<p>Umsj\u00f3narkennari og lei\u00f0beinandi var dr. Hans T\u00f3mas Bj\u00f6rnsson. Auk hans s\u00e1tu \u00ed doktorsnefnd \u00c1sbj\u00f6rg \u00d3sk Snorrad\u00f3ttir, lektor, Berg\u00fe\u00f3ra Eir\u00edksd\u00f3ttir, d\u00fdral\u00e6knir, Eir\u00edkur Steingr\u00edmsson, pr\u00f3fessor og Wendy Jones, s\u00e9rfr\u00e6\u00f0ingur \u00ed kl\u00edn\u00edskri erf\u00f0afr\u00e6\u00f0i.<\/p>\n<p>\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<p><strong>\u00c1grip <\/strong><\/p>\n<p>Wiedemann-Steiner heilkenni (WDSTS) er sjaldg\u00e6fur erf\u00f0asju\u0301kdo\u0301mur sem veldur greindarsker\u00f0ingu sem enn reynist o\u0301l\u00e6knandi og li\u0301ti\u00f0 er vita\u00f0 um sju\u0301kdo\u0301msmyndun \u00feess. Orsakir WDSTS eru arfblendnar sto\u0308kkbreytingar i\u0301 geni sem ta\u0301knar fyrir ensi\u0301minu lysi\u0301n-histo\u0301numety\u0301ltransferasa 2A (KMT2A). Birtingarmynd WDSTS felur i\u0301 se\u0301r margvi\u0301sleg li\u0301kamleg einkenni, t.d. vaxtarsker\u00f0ingu, vo\u0308\u00f0vaslappleika, meltingarf\u00e6ravandama\u0301l, afbrig\u00f0ilega andlitsdr\u00e6tti og aukinn ha\u0301rvo\u0308xt. Markmi\u00f0 \u00feessarar doktorsritger\u00f0ar var a\u00f0 dy\u0301pka skilning okkar a\u0301 sju\u0301kdo\u0301msmyndun WDSTS me\u00f0 y\u0301msum a\u00f0fer\u00f0um og auka \u00feannig \u00feekkingu a\u0301 \u00feessu sjaldg\u00e6fa heilkenni. Kynntar eru ny\u0301jar ni\u00f0ursto\u0308\u00f0ur sem sy\u0301na fram a\u0301 hlutverk CXXC hneppisins i\u0301 sju\u0301kdo\u0301msmyndun WDSTS, auk \u00feess er varpa\u00f0 ljo\u0301si a\u0301 a\u0301\u00f0ur o\u0301\u00feekkt hlutverk KMT2A i\u0301 taugakambs\u00fero\u0301un. \u00dea\u00f0 to\u0301kst a\u00f0 bu\u0301a til ny\u0301tt mu\u0301samo\u0301del fyrir WDSTS (Kmt2a+\/LSL) og er \u00fev\u00ed ly\u0301st i\u0301 sma\u0301atri\u00f0um a\u0301samt \u00fevi\u0301 a\u00f0 sy\u0301nt er fram a\u0301 mo\u0301tanleika taugasvipger\u00f0ar mu\u0301samo\u0301delsins a\u0301 fo\u0301sturstigi. Fyrir viki\u00f0 \u00e6tti a\u00f0 vera fy\u0301silegt a\u00f0 \u00fero\u0301a me\u00f0fer\u00f0aru\u0301rr\u00e6\u00f0i vi\u00f0 WDSTS i\u0301 framti\u0301\u00f0inni.<\/p>\n<p><strong>Abstract <\/strong><\/p>\n<p>Wiedemann-Steiner syndrome (WDSTS) is a rare genetic cause of intellectual disability, with no cure and little research on the disease mechanism to this date. WDSTS is caused by heterozygous variants in the gene encoding for the epigenetic regulator lysine- histone methyltransferase 2A (KMT2A). Individuals with WDSTS present with a range of symptoms widely affecting the body such as growth retardation, distinct craniofacial features and GI symptoms, which can prove difficult to manage and impacts their quality of life. In this project we aimed to gain a deeper understanding of the underlying disease mechanism of WDSTS using several different methods and to expand on the current knowledge of this rare syndrome. We provide new evidence for the role of the CXXC domain of KMT2A in WDSTS pathogenesis, as well as shedding light on new roles of KMT2A in biological processes such as neural crest development. We created and characterized a novel mouse model (Kmt2a+\/LSL) for researching WDSTS in vivo as well as providing compelling evidence of in utero malleability of the neurological dysfunction, making WDSTS a promising candidate for future therapeutic opportunities.<\/p>\n<p><strong>Um doktorsefni\u00f0<\/strong><\/p>\n<p>Tinna Reynisd\u00f3ttir er f\u00e6dd \u00e1ri\u00f0 1997 \u00ed Reykjav\u00edk. H\u00fan \u00fatskrifa\u00f0ist af n\u00e1tt\u00farufr\u00e6\u00f0ibraut Menntask\u00f3lans \u00ed Reykjav\u00edk \u00e1ri\u00f0 2017. Tinna lauk B.Sc. pr\u00f3fi \u00ed l\u00edfeindafr\u00e6\u00f0i vi\u00f0 H\u00e1sk\u00f3la \u00cdslands \u00e1ri\u00f0 2020 og starfa\u00f0i samhli\u00f0a grunnn\u00e1mi hj\u00e1 \u00cdslenskri erf\u00f0agreiningu. Me\u00f0 \u00fev\u00ed a\u00f0 skr\u00e1 sig \u00ed sam\u00fe\u00e6tt meistara- og doktorsn\u00e1m vi\u00f0 H\u00e1sk\u00f3la \u00cdslands h\u00f3f Tinna meistaran\u00e1m sitt \u00ed \u00e1g\u00fast 2020 og s\u00ed\u00f0an doktorsn\u00e1m \u00ed okt\u00f3ber 2021 vi\u00f0 ranns\u00f3knarstofu dr. Hans T\u00f3masar Bj\u00f6rnssonar. Tinna lauk M.Sc. gr\u00e1\u00f0u \u00ed l\u00edfeindafr\u00e6\u00f0i vori\u00f0 2022. Foreldrar Tinnu eru Valger\u00f0ur Sveinsd\u00f3ttir og Reynir Dan\u00edelsson.<\/p>\n<\/div><\/div>","protected":false},"featured_media":5701,"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":"2024-10-24T13:00:00+00:00","_phd_date_end":"2024-10-24T16:00:00+00:00","_phd_location":"A\u00f0albygging H\u00e1t\u00ed\u00f0asalur","_phd_admission":"A\u00f0gangur \u00f3keypis","_phd_thesis_title":"Undirliggjandi sj\u00fakd\u00f3msmyndun og \u00e1kv\u00f6r\u00f0un m\u00f3tanleika tauga-svipger\u00f0ar \u00ed Wiedemann-Steiner heilkenni. 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