{"id":12348,"date":"2019-02-28T08:39:32","date_gmt":"2019-02-28T13:39:32","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=12348"},"modified":"2019-02-28T08:39:32","modified_gmt":"2019-02-28T13:39:32","slug":"ee-dares-to-be-rare-rare-disease-day-2019","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/sv\/ee-dares-to-be-rare-rare-disease-day-2019\/","title":{"rendered":"EE v\u00e5gar vara s\u00e4llsynt: Dagen f\u00f6r s\u00e4llsynta sjukdomar 2019"},"content":{"rendered":"

Den 28 februari \u00e4r det dags f\u00f6r den 12:e \u00e5rliga Rare Disease Day, en v\u00e4rldsomsp\u00e4nnande kampanj f\u00f6r att \u00f6ka medvetenheten om s\u00e4llsynta sjukdomar. Kampanjen riktar sig i f\u00f6rsta hand till allm\u00e4nheten, men syftar ocks\u00e5 till att skapa diskussion om s\u00e4llsynta sjukdomar bland beslutsfattare, branschf\u00f6retr\u00e4dare, forskare och v\u00e5rdpersonal.<\/span><\/p>\n

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P\u00e5 Emily's Entourage (EE) \u00e4r v\u00e5rt yttersta m\u00e5l att p\u00e5skynda forskning och l\u00e4kemedelsutveckling f\u00f6r personer med nonsensmutationer vid cystisk fibros (CF). De med nonsensmutationer \u00e4r \"s\u00e4llsynta\" rakt igenom och representerar en s\u00e4llsynt grupp mutationer av en s\u00e4llsynt sjukdom och en olycklig del av de \"s\u00e4llsynta\" 10% i CF-samh\u00e4llet f\u00f6r vilka det inte finns n\u00e5gra godk\u00e4nda eller sena kliniska pr\u00f6vningsbehandlingar.<\/span><\/p>\n

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En sjukdom anses vara s\u00e4llsynt n\u00e4r den drabbar f\u00e4rre \u00e4n 200 000 personer i v\u00e4rlden, och CF drabbar f\u00f6r n\u00e4rvarande cirka 70 000 personer i v\u00e4rlden, vilket g\u00f6r den till en mer \"vanlig\" s\u00e4llsynt sjukdom. EE h\u00e5ller sitt m\u00e4rke f\u00f6r s\u00e4llsynta sjukdomar n\u00e4ra hj\u00e4rtat, g\u00e5r samman med s\u00e4llsynta sjukdomar och tycker att dagar som denna \u00e4r viktiga f\u00f6r att sprida br\u00e5dska och energi f\u00f6r att p\u00e5skynda forskningen f\u00f6r alla s\u00e4llsynta sjukdomar f\u00f6r att hedra de drabbade. \u00c4ven om enskilda sjukdomar i sig kan betecknas som \"s\u00e4llsynta\" finns det \u00f6ver 7 000 s\u00e4llsynta sjukdomar som tillsammans drabbar 350 000 000 m\u00e4nniskor \u00f6ver hela v\u00e4rlden, vilket motsvarar ungef\u00e4r 1 av 10 amerikaner. Trots f\u00f6rekomsten av s\u00e4llsynta sjukdomar finns det FDA-godk\u00e4nda behandlingar f\u00f6r mindre \u00e4n 10% av s\u00e4llsynta sjukdomar enligt Nationella organisationen f\u00f6r s\u00e4llsynta diagnoser (NORD)<\/a>.\u00a0<\/span><\/p>\n

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F\u00f6rra \u00e5ret under Rare Disease Week 2018 hedrades EE som \"foundation partner\" vid Icagen's f\u00f6rsta Rare Disease Desert Symposium i Tucson, Arizona, ett tv\u00e5dagarsevenemang som samlade forskare och representanter fr\u00e5n l\u00e4kemedels- och bioteknikf\u00f6retag f\u00f6r att fr\u00e4mja forskning och l\u00e4kemedelsutveckling f\u00f6r s\u00e4llsynta sjukdomar. Dag tv\u00e5 inledde Emily konferensen med ett \u00f6vertygande budskap om hur samarbete mellan flera intressenter kan p\u00e5skynda vetenskapliga framsteg, s\u00e4rskilt genom patientledda forskningsstiftelser. Emily begav sig sedan s\u00f6derut, d\u00e4r hon talade vid 5:e \u00e5rliga symposiet om genomik f\u00f6r s\u00e4llsynta sjukdomar<\/a> vid University of Alabama i Birmingham om den avg\u00f6rande roll som patienter och familjer kan spela f\u00f6r att inf\u00f6ra nya biomedicinska modeller i framtiden.<\/span><\/p>\n

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I \u00e5r sparkar Emily ig\u00e5ng dagen p\u00e5 kl. PRA H\u00e4lsovetenskap<\/a>evenemanget Rare Disease Day, d\u00e4r hon kommer att belysa de <\/span>den makt som patientf\u00f6retr\u00e4dare och organisationer har i den kliniska utvecklingsprocessen samt varf\u00f6r medvetenhet \u00e4r s\u00e5 viktigt p\u00e5 detta omr\u00e5de<\/span>. Tack till PRA f\u00f6r att ni tillhandah\u00e5ller en plattform f\u00f6r att sprida medvetenhet om hur EE-communityn kontinuerligt f\u00f6r oss n\u00e4rmare en ljusare och h\u00e4lsosammare framtid f\u00f6r 100% av CF-populationen - \u00e4ven de mest s\u00e4llsynta av de s\u00e4llsynta. <\/span><\/p>\n

P\u00e5 Emily's Entourage \u00e4r vi \u00f6vertygade om att ingen sjukdom eller mutation \u00e4r f\u00f6r s\u00e4llsynt f\u00f6r att betyda n\u00e5got. Denna Rare Disease Day, v\u00e5ga vara s\u00e4llsynt, luta dig in i din unikhet och g\u00e5 med EE f\u00f6r att visa ditt engagemang f\u00f6r s\u00e4llsynta sjukdomar, p\u00e5minna denna lilla men h\u00e5rda gemenskap att \u00e4ven om de kan vara s\u00e4llsynta, \u00e4r de starka, de \u00e4r kraftfulla och mest av allt, de kommer inte att l\u00e4mnas kvar. <\/span><\/p>","protected":false},"excerpt":{"rendered":"

This February 28 marks the 12th Annual Rare Disease Day, a worldwide campaign to bring about critical awareness for rare diseases. This campaign, while primarily targeted to the general public, also seeks to cultivate discussion surrounding rare disease with policymakers, industry representatives, researchers, and health professionals. At Emily\u2019s Entourage (EE), our ultimate goal is to… <\/p>\n

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