{"id":549,"date":"2021-08-17T15:05:33","date_gmt":"2021-08-17T12:05:33","guid":{"rendered":"https:\/\/www.silmasaatio.fi\/perinnolliset-silmasairaudet\/"},"modified":"2024-11-22T11:39:55","modified_gmt":"2024-11-22T09:39:55","slug":"arftliga-ogonsjukdomar","status":"publish","type":"post","link":"https:\/\/www.silmasaatio.fi\/sv\/arftliga-ogonsjukdomar\/","title":{"rendered":"\u00c4rftliga \u00f6gonsjukdomar"},"content":{"rendered":"

\"\"<\/p>\n

\u00d6gat som ett delvis genomskinligt organ erbjuder utm\u00e4rkta m\u00f6jligheter att konstatera sjukdomar och en noggrann klassificering. I m\u00e4nnisko\u00f6gat kan det finnas till och med tusentals genetiska sjukdomar. Finlands historia av en delvis isolerad befolkning utg\u00f6r en utm\u00e4rkt utg\u00e5ngspunkt f\u00f6r att unders\u00f6ka \u00e4rftliga sjukdomar, och faktum \u00e4r att Finland har berikats med m\u00e5nga genetiska sjukdomar.<\/p>\n

Jag skrev min avhandling om genetiken bakom schizofreni i akademiker Leena Peltonens grupp. D\u00e5 jag \u00e5r 2012 b\u00f6rjade specialisera mig p\u00e5 \u00f6gonsjukdomar uppt\u00e4ckte jag att m\u00e5nga patienter hade en odiagnostiserad genetisk \u00f6gonsjukdom. Min bakgrund gjorde att jag intresserade mig f\u00f6r dessa och \u00e5terupptog forskningsarbetet efter pausen efter avhandlingen. I dag leder jag ett forskningsteam inom \u00f6gongenetik\u00a0vid Folkh\u00e4lsans<\/a>\u00a0forskningscentrum.<\/p>\n

Mitt forskningsteam fokuserar \u00f6vergripande p\u00e5 att utreda \u00e4rftliga \u00f6gonsjukdomar<\/h2>\n

Om de s\u00e5 \u00f6nskar anser jag att alla patienter har r\u00e4tt att f\u00e5 en f\u00f6rklaring p\u00e5 sin sjukdom om en exakt genetisk diagnos kan erbjuda det. En riskkartl\u00e4ggning vid \u00e4rftlighetsr\u00e5dgivningen och av sl\u00e4kten ger m\u00f6jlighet till detta. En utveckling av behandlingarna lyckas inte heller utan k\u00e4nnedom om sjukdomarnas molekylbiologiska mekanismer.<\/p>\n

Inom sjukhusarbetet erbjuds gentester med genpaneler. De f\u00f6rklarar dock endast en del av de \u00e4rftliga \u00f6gonsjukdomarna. Ambitionen f\u00f6r v\u00e5rt team \u00e4r att utreda den genetiska orsaken till dessa \u00e4nnu ok\u00e4nda \u00e4rftliga \u00f6gonsjukdomar. N\u00e4r vi f\u00f6rst\u00e5r den genetiska orsaken kan vi unders\u00f6ka hur genfelet p\u00e5verkar cellerna och eventuellt utveckla behandlingsformer.<\/p>\n

B\u00e4ttre f\u00f6rst\u00e5else f\u00f6r sjukdomsbilden och utveckling av behandlingsformer<\/h2>\n

Vi har exempelvis hittat ett genfel som orsakar\u00a0hornhinneinflammation<\/a>\u00a0som visat sig vara mycket allm\u00e4nt i Finland, det vetenskapliga namnet \u00e4r\u00a0keratitis fugax hereditaria<\/strong>. Forskningen forts\u00e4tter f\u00f6r att exakt kunna fastst\u00e4lla sjukdomsbilden och f\u00f6r att hitta b\u00e4ttre behandlingar.<\/p>\n

Vi har dessutom i Finland i samarbete med professor Tero Kivel\u00e4 skildrat BAP1-cancersyndromet som predisponerar f\u00f6r flera olika cancerformer, exempelvis\u00a0melanom i \u00e5derhinnan<\/a>\u00a0V\u00e5rt forskningsteam unders\u00f6ker \u00e4ven p\u00e5 bred front andra \u00e4rftliga \u00f6gonsjukdomar, exempelvis \u00e4rftlig hornhinnedegeneration,\u00a0\u00a0\u00e4rftlig n\u00e4thinnedegeneration,<\/a>\u00a0\u00a0medf\u00f6dd gr\u00e5 starr<\/a>\u00a0samt\u00a0glaukom<\/a>\u00a0som b\u00f6rjar vid ung \u00e5lder Den vanligaste orsaken till hornhinnetransplantation i v\u00e4stv\u00e4rlden \u00e4r\u00a0Fuchs hornhinnedystrofi<\/a>, och vi h\u00e5ller p\u00e5 att utreda den genetiska bakgrunden till detta f\u00f6r f\u00f6rsta g\u00e5ngen i Finland.<\/p>\n

V\u00e5rt forskningsteam best\u00e5r av experter med m\u00e5ngsidig kompetens eftersom vi unders\u00f6ker \u00f6gonsjukdomar p\u00e5 bred front.<\/p>\n

    \n
  1. vi utreder sjukdomsbilden noggrant genom att till exempel p\u00e5 olika s\u00e4tt ta bilder av \u00f6gat<\/li>\n
  2. med hj\u00e4lp av genetisk forskning f\u00f6rs\u00f6ker vi hitta nya genfel och sjukdomsmekanismer<\/li>\n
  3. med hj\u00e4lp av cell- och molekylbiologiska unders\u00f6kningar utreder vi hur genfelen p\u00e5verkar cellerna och v\u00e4vnaderna<\/li>\n
  4. d\u00e5 vi b\u00e4ttre f\u00f6rst\u00e5r molekylbiologin vill vi utveckla eventuella behandlingar mot \u00f6gonsjukdomar.<\/li>\n<\/ol>\n

    Mitt forskningsteam har f\u00e5tt flera stipendier av Silm\u00e4s\u00e4\u00e4ti\u00f6 och utan dessa skulle n\u00e4mna forskningsr\u00f6n inte ha gjorts. Stiftelsens betydelse f\u00f6r \u00f6gonforskningen \u00e4r oers\u00e4ttlig i Finland.<\/p>\n

    \"\"<\/p>\n

    Artikeln \u00e4r skriven av specialistl\u00e4karen inom \u00f6gonsjukdomar och docenten i oftalmologi\u00a0Joni A. Turunen<\/strong><\/em><\/p>\n

    Docent Turunen arbetar p\u00e5 \u00d6gon-\u00f6ronsjukhuset vid Helsingfors universitetssjukhus. D\u00e4rut\u00f6ver arbetar han som klinisk l\u00e4rare vid Helsingfors universitet samt som ledare f\u00f6r forskningsteamet inom \u00f6gongenetik vid Folkh\u00e4lsans forskningscentrum.<\/p>\n

    Artikelns bild: Close up of anatomical eye model, Olena Yakobchuk\/Shutterstock.com<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

    \u00d6gat som ett delvis genomskinligt organ erbjuder utm\u00e4rkta m\u00f6jligheter att konstatera sjukdomar och en noggrann klassificering. I m\u00e4nnisko\u00f6gat kan det finnas till och med tusentals…<\/p>\n","protected":false},"author":1,"featured_media":369,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4],"tags":[],"class_list":["post-549","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-aktuell"],"yoast_head":"\n\u00c4rftliga \u00f6gonsjukdomar - Silm\u00e4s\u00e4\u00e4ti\u00f6<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.silmasaatio.fi\/sv\/arftliga-ogonsjukdomar\/\" \/>\n<meta property=\"og:locale\" content=\"sv_SE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"\u00c4rftliga \u00f6gonsjukdomar - Silm\u00e4s\u00e4\u00e4ti\u00f6\" \/>\n<meta property=\"og:description\" content=\"\u00d6gat som ett delvis genomskinligt organ erbjuder utm\u00e4rkta m\u00f6jligheter att konstatera sjukdomar och en noggrann klassificering. 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