{"id":6307,"date":"2026-10-19T09:48:45","date_gmt":"2026-10-19T09:48:45","guid":{"rendered":"https:\/\/phd.hi.is\/doktorsvorn\/doktorsvorn-i-lif-og-laeknavisindum-muhammad-sulaman-nawaz\/"},"modified":"2026-10-19T09:48:45","modified_gmt":"2026-10-19T09:48:45","slug":"doktorsvorn-i-lif-og-laeknavisindum-muhammad-sulaman-nawaz","status":"publish","type":"phd_defence","link":"https:\/\/phd.hi.is\/en\/doktorsvorn\/doktorsvorn-i-lif-og-laeknavisindum-muhammad-sulaman-nawaz\/","title":{"rendered":"Doktorsv\u00f6rn \u00ed l\u00edf- og l\u00e6knav\u00edsindum &#8211; Muhammad Sulaman Nawaz"},"content":{"rendered":"<div class=\"field-items\">\n<div class=\"field-item even\" property=\"content:encoded\">\n<p>F\u00f6studaginn <strong>2. desember<\/strong> ver <strong>Muhammad Sulaman Nawaz<\/strong> doktorsritger\u00f0 s\u00edna \u00ed l\u00edf- og l\u00e6knav\u00edsindum vi\u00f0 L\u00e6knadeild H\u00e1sk\u00f3la \u00cdslands. Ritger\u00f0in ber heiti\u00f0: Erf\u00f0afr\u00e6\u00f0i \u00feroskaraskana, \u00f3sj\u00e1lfr\u00e1\u00f0ra hreyfinga, hvatv\u00edsi og \u00fer\u00e1hyggju. Genetic architecture of childhood neuropsychiatric and involuntary movement disorders.<\/p>\n<p>Andm\u00e6lendur eru dr. Peristera Paschou, pr\u00f3fessor vi\u00f0 Purdue University, Bandar\u00edkjunum, og dr. Zeynep T\u00fcmer, pr\u00f3fessor vi\u00f0 H\u00e1sk\u00f3lann \u00ed Kaupmannah\u00f6fn.<\/p>\n<p>Umsj\u00f3narkennari var K\u00e1ri Stef\u00e1nsson, pr\u00f3fessor emeritus og lei\u00f0beinandi var Hreinn Stef\u00e1nsson, forst\u00f6\u00f0uma\u00f0ur hj\u00e1 DeCode. Auk \u00feeirra s\u00e1tu \u00ed doktorsnefnd, G\u00edsli M\u00e1sson, s\u00e9rfr\u00e6\u00f0ingur, Gu\u00f0bj\u00f6rn Freyr J\u00f3nsson, s\u00e9rfr\u00e6\u00f0ingur, P\u00e9tur L\u00fa\u00f0v\u00edksson, s\u00e9rfr\u00e6\u00f0ingur og \u00deorgeir Stef\u00e1nsson, erf\u00f0afr\u00e6\u00f0ingur.<\/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. V\u00f6rninni ver\u00f0ur streymt.<\/p>\n<p><strong>\u00c1grip<\/strong><\/p>\n<p>Mannerf\u00f0afr\u00e6\u00f0iranns\u00f3knir leitast vi\u00f0 a\u00f0 auka skilning \u00e1 \u00fer\u00f3un, fj\u00f6lbreytileika og ors\u00f6kum sj\u00fakd\u00f3ma og stu\u00f0la enn fremur a\u00f0 \u00fer\u00f3un betri me\u00f0fer\u00f0ar \u00feeirra me\u00f0 \u00fev\u00ed a\u00f0 uppg\u00f6tva n\u00fd lyfjam\u00f6rk. Tauga\u00feroskaraskanir barna (Tourette heilkenni (TS), athyglisbrestur og ofvirkni r\u00f6skun (ADHD), \u00fer\u00e1hyggju- og \u00e1r\u00e1ttur\u00f6skun (OCD)), og \u00f3sj\u00e1lfr\u00e1\u00f0ar hreyfiraskanir (f\u00f3ta\u00f3eir\u00f0 (RLS)) eru me\u00f0 yfir 15% samanlagt l\u00edfst\u00ed\u00f0aralgengi. \u00deessar raskanir eru mj\u00f6g arfgengar, undir \u00e1hrifum margra erf\u00f0av\u00edsa og einkennast af fl\u00f3knu samspili erf\u00f0abreytileika og umhverfis.<\/p>\n<p>Fj\u00f6lmenn ranns\u00f3knar\u00fe\u00fd\u00f0i eru nau\u00f0synleg til a\u00f0 uppg\u00f6tva erf\u00f0abreytileika sem tengjast sj\u00fakd\u00f3mum og varpa\u00f0 geta lj\u00f3si \u00e1 \u00fe\u00e1 l\u00edffr\u00e6\u00f0ilegu ferla sem koma vi\u00f0 s\u00f6gu. \u00cd \u00feessari ritger\u00f0 er fylgnigreiningu, n\u00e1nar tilteki\u00f0 v\u00ed\u00f0t\u00e6kri erf\u00f0amengisskimun (GWAS), beitt til a\u00f0 finna fylgni b\u00e6\u00f0i sjaldg\u00e6fra og algengra erf\u00f0abreytileika vi\u00f0 TS, ADHD, OCD og RLS. \u00deessar skimanir eru st\u00e6rstu ranns\u00f3knir af \u00feessu tagi sem birtar hafa veri\u00f0, hinga\u00f0 til, fyrir TS, OCD og RLS. \u00cd framhaldsranns\u00f3knum \u00e1 ni\u00f0urst\u00f6\u00f0um skimana var \u00fdmsum a\u00f0fer\u00f0um beitt til a\u00f0 tengja erf\u00f0abreytileika beint vi\u00f0 \u00e1kve\u00f0na erf\u00f0av\u00edsa, me\u00f0al annars \u00e1hrifum \u00e1 basar\u00f6\u00f0 sj\u00e1lfra erf\u00f0av\u00edsanna, \u00e1 umritun og tj\u00e1ningu (transcriptomics) og \u00e1 magn pr\u00f3t\u00edna (proteomics). Erf\u00f0afylgnigreining og fj\u00f6lgena \u00e1h\u00e6ttuskor eru einnig notu\u00f0 til \u00feess a\u00f0 meta \u00e1hrif erf\u00f0a\u00e1h\u00e6ttu\u00fe\u00e1tta einnar r\u00f6skunar \u00e1 a\u00f0rar svipger\u00f0ir og gagnast vi\u00f0 \u00fe\u00e1ttagreiningu erf\u00f0a\u00e1h\u00e6ttu.<\/p>\n<p>Samband er \u00e1 milli byggingar og virkni heilans og breytileiki \u00ed byggingu heilans tengist \u00e1h\u00e6ttu \u00e1 heila- og taugasj\u00fakd\u00f3mum. Enn fremur m\u00e1 oft sk\u00fdra \u00e1hrif erf\u00f0abreytileika \u00e1 sj\u00fakd\u00f3ms\u00e1h\u00e6ttu me\u00f0 \u00e1hrifum \u00feeirra \u00e1 v\u00f6xt og \u00feroska heilans. H\u00e9r er sk\u00fdrt fr\u00e1 ni\u00f0urst\u00f6\u00f0um v\u00ed\u00f0t\u00e6krar erf\u00f0amengisskimunar \u00e1 r\u00famm\u00e1li heilans, sem leiddi \u00ed lj\u00f3s fylgni vi\u00f0 64 erf\u00f0abreytileika sem \u00fatsk\u00fdra alls um 5,0% af dreifni svipger\u00f0arinnar. Erf\u00f0afylgnigreining \u00e1 milli ni\u00f0ursta\u00f0na fyrir heilar\u00famm\u00e1l og ni\u00f0ursta\u00f0na \u00far v\u00ed\u00f0t\u00e6kum erf\u00f0askimunum fyrir 1480 svipger\u00f0ir, bar kennsl \u00e1 62 svipger\u00f0ir sem s\u00fdna markt\u00e6ka erf\u00f0afylgni. \u00c1 me\u00f0al svipger\u00f0a sem s\u00fdna sl\u00edka fylgni m\u00e1 finna ADHD, Parkinson-sj\u00fakd\u00f3m, greind og menntun, tilfinningaraskanir, f\u00e6\u00f0ingar\u00feyngd, og svipger\u00f0ir sem tengjast f\u00e9lagslegum \u00fe\u00e1ttum og fj\u00e1rhag. Tv\u00ed\u00e1tta Mendelsk slembivalsgreining sem n\u00fdtir erf\u00f0abreytileika me\u00f0 sterka fylgni vi\u00f0 heilar\u00famm\u00e1l gaf til kynna a\u00f0 r\u00famm\u00e1l heilans orsaki beinl\u00ednis anna\u00f0hvort tauga\u00feroskaraskanir (ADHD) og taugasj\u00fakd\u00f3ma (Parkinson) e\u00f0a \u00fe\u00e1 a\u00f0 \u00feessu orsakasamhengi s\u00e9 st\u00fdrt af svipger\u00f0um sem s\u00fdna sterka fylgni vi\u00f0 r\u00famm\u00e1l heilans.<\/p>\n<p><strong>Abstract<\/strong><\/p>\n<p>Human genetic research is aimed at understanding the evolution, diversity, and aetiology of disease and, from a medical perspective, to identify druggable targets which are helpful for better treatment. The childhood neuropsychiatric (Tourette syndrome (TS), attention deficit and hyperactive disorder (ADHD), obsessive compulsive disorder (OCD)) and involuntary movement disorders (restless leg syndrome (RLS)) have combined lifetime prevalence of &gt; 15% with high heritability, polygenicity, complex interplay of polygenic markers, and gene-environment interaction.<\/p>\n<p>Large studies are required to discover genetic associations and to uncover underlying genetic architecture. In this thesis, rare and common sequence (genetic) variants in genome wide association studies (GWAS) were used to identify variants associated with these disorders TS, ADHD, OCD, and RLS. This included the largest, to date, GWAS study on TS, OCD, and RLS. Furthermore, post GWAS analysis included colocalizations studies (transcriptome, proteome, and coding) to pinpoint causal genes tagged by these associations. Genetic correlation and polygenic risk score studies helped identify cross disorder risk and to help dissect the genetic architecture of these disorders.<\/p>\n<p>Variation in brain structure can help to investigate brain structure-function relationships which may be associated with neurological disorders. Moreover, sequence variants may exert their effect on neurological disorders through their impact on brain growth. In the largest, to date, GWAS study of human intracranial volume (ICV) 64 variants were found explaining 5% of variance in ICV. The genetic correlation of ICV compared against 1,480 GWAS studies, found 62 traits correlated with ICV: including ADHD, Parkinson\u2019s disease, cognition and learning traits, neuroticism, socio-economic status, birth weight. Bidirectional Mendelian randomizations analyses using genetic variants of ICV revealed that ICV either has a causal effect on a neurodevelopmental disorder (ADHD) as well as on a neurodegenerative disease (Parkinson\u2019s) or these causal relationships might be driven by traits closely correlated with ICV.<\/p>\n<p><strong>Um doktorsefni\u00f0<\/strong><\/p>\n<p>Muhammad Sulaman Nawaz f\u00e6ddist \u00e1ri\u00f0 1983 \u00ed Gujrat \u00ed Pakistan. Hann lauk st\u00fadentspr\u00f3fi af n\u00e1tt\u00farufr\u00e6\u00f0ibraut framhaldssk\u00f3la \u00ed Malhu Khokhar \u00ed Gujrat \u00e1ri\u00f0 2001 og emb\u00e6ttispr\u00f3fi \u00ed l\u00edfuppl\u00fdsingafr\u00e6\u00f0i fr\u00e1 Mohammad Ali Jinnah University og Quaid-e-Azam University \u00ed Islamabad, Pakistan \u00e1ri\u00f0 2008. Sulaman h\u00f3f doktorsn\u00e1m vi\u00f0 H\u00e1sk\u00f3la \u00cdslands hausti\u00f0 2013 og hefur s\u00ed\u00f0an starfa\u00f0 a\u00f0 doktorsverkefni s\u00ednu og uppsetningu og framkv\u00e6md ranns\u00f3knarinnar \u201eErf\u00f0afr\u00e6\u00f0i \u00feroskaraskana, \u00f3j\u00e1lfr\u00e1\u00f0ra hreyfinga, hvatv\u00edsi og \u00fer\u00e1hyggju\u201c. Samhli\u00f0a doktorsn\u00e1mi s\u00ednu vann Sulaman me\u00f0 m\u00f6rgum al\u00fej\u00f3\u00f0legum v\u00edsindam\u00f6nnum a\u00f0 erf\u00f0afr\u00e6\u00f0i taugaverkjasj\u00fakd\u00f3ma, \u00feroskah\u00f6mlunar og tannbreytinga. Sulaman lauk einnig vottun \u00ed Deep Neural Networks \u00ed gegnum Stanford og Industrial Statistics \u00ed gegnum SAS. Hann t\u00f3k einnig \u00fe\u00e1tt \u00ed m\u00f6rgum v\u00edsindar\u00e1\u00f0stefnum, me\u00f0 veggspjald og munnleg erindi. Ranns\u00f3knar\u00e1hugam\u00e1l Sulaman eru a\u00f0allega \u00ed taugaerf\u00f0afr\u00e6\u00f0i og notkun st\u00f3rra gagnasetta til a\u00f0 skilja taugasj\u00fakd\u00f3ma og pers\u00f3nueinkenni. Foreldrar Sulamans eru Malik Muhammad Nawaz og Sulaman Nawaz. Samb\u00fdliskona hans er I\u00f0unn Zahida Parveen og eiga \u00feau tv\u00f6 b\u00f6rn, soninn Yahya og d\u00f3tturina Mirha.<\/p>\n<\/div><\/div>","protected":false},"featured_media":5288,"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":"2022-12-02T13:00:00+00:00","_phd_date_end":"2022-12-02T16:00:00+00:00","_phd_location":"A\u00f0albygging H\u00e1t\u00ed\u00f0asalur","_phd_admission":"A\u00f0gangur \u00f3keypis","_phd_thesis_title":"Erf\u00f0afr\u00e6\u00f0i \u00feroskaraskana, \u00f3sj\u00e1lfr\u00e1\u00f0ra hreyfinga, hvatv\u00edsi og \u00fer\u00e1hyggju. 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