{"id":11927,"date":"2018-12-12T17:01:37","date_gmt":"2018-12-12T22:01:37","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=11927"},"modified":"2018-12-12T17:01:44","modified_gmt":"2018-12-12T22:01:44","slug":"recap-ee-symposium-tackles-key-hurdles-and-strategies-for-expedited-progress-for-cf-nonsense-mutations","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/sv\/recap-ee-symposium-tackles-key-hurdles-and-strategies-for-expedited-progress-for-cf-nonsense-mutations\/","title":{"rendered":"RECAP: EE Symposium tar upp viktiga hinder och strategier f\u00f6r att p\u00e5skynda utvecklingen av CF-nonsensmutationer"},"content":{"rendered":"

Emily's Entourage (EE) h\u00f6ll sitt tredje vetenskapliga symposium, Terapeutisk utveckling f\u00f6r nonsensmutationer: Den sista gr\u00e4nsen f\u00f6r CF<\/em>, den 25 september p\u00e5 The Wistar Institute i Philadelphia, PA. Fokus var att p\u00e5skynda genombrott och ett botemedel f\u00f6r de sista 10% av cystisk fibros (CF)-populationen utan en riktad behandling med fokus p\u00e5 nonsensmutationer.
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\u00d6ver 47 framst\u00e5ende CF-forskare och f\u00f6retag fr\u00e5n hela v\u00e4rlden samlades f\u00f6r att utbyta id\u00e9er om hur man kan p\u00e5skynda utvecklingen av livr\u00e4ddande behandlingar f\u00f6r personer med nonsensmutationer av CF. \u00c4ven om banbrytande CFTR-modulerande behandlingar f\u00f6r n\u00e4rvarande \u00e4r godk\u00e4nda eller befinner sig i sen klinisk utvecklingsfas f\u00f6r cirka 90% av CF-populationen, utg\u00f6r de med nonsensmutationer av CF den st\u00f6rsta delen av de 10% av CF-populationen som inte \u00e4r godk\u00e4nda.
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Symposiet inleddes med en v\u00e4lkomstmiddag kv\u00e4llen innan d\u00e4r g\u00e4sterna fick ett varmt mottagande av EE Scientific Advisory Boards ordf\u00f6rande Kevin Foskett, PhD, EE Scientific Director Pete Haggie, PhD, och Emily p\u00e5 Distrito i University City. Akademiker och branschfolk minglade och delade med sig av sina m\u00e5l i en avslappnad milj\u00f6 \u00f6ver en uts\u00f6kt mexikansk middag.
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Den 25 september \u00f6ppnade Emily symposiet med ett v\u00e4lkomstanf\u00f6rande. Hon presenterade kampanjvideon f\u00f6r 2018 f\u00f6r att introducera EE:s \u00f6vergripande uppdrag och g\u00f6ra m\u00f6tets br\u00e5dskande karakt\u00e4r m\u00e4nsklig. Efter Emilys anf\u00f6rande p\u00e5b\u00f6rjades det h\u00e5rda vetenskapliga arbetet i fyra olika sessioner.
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Varje session var uppdelad i tv\u00e5 huvuddelar. Den f\u00f6rsta delen fokuserade p\u00e5 formella presentationer av forskare fr\u00e5n den akademiska v\u00e4rlden och industrin som fr\u00e4mst talade om viktiga framsteg som de har gjort, nya data som de har genererat och eventuella specifika hinder som p\u00e5verkar deras f\u00f6rm\u00e5ga att g\u00e5 vidare. Den andra delen innebar att presentat\u00f6rer och experter satt l\u00e4ngst fram i publiken f\u00f6r att underl\u00e4tta diskussionen med hela rummet. Diskussionerna var livliga och produktiva och bidrog till att skapa de n\u00e4sta steg som kr\u00e4vs f\u00f6r att komma vidare.
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I. CFTR-modulatorer: Utveckling, anpassning och testning av modulatorer f\u00f6r trunkerade CFTR<\/strong><\/p>\n\n\n\n

Session I bestod av fyra talare som behandlade metoder f\u00f6r att direkt modulera CFTR-genens aktivitet. Dessa metoder skulle rikta in sig p\u00e5 den trunkerade formen av CFTR som genereras av den f\u00f6r tidiga termineringen i nonsensmutationer, och skulle underl\u00e4tta genoml\u00e4sning av genen f\u00f6r att generera proteinet i full l\u00e4ngd.<\/p>\n\n\n\n

F\u00f6redragsh\u00e5llare:<\/strong><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Alan Verkman, MD, PhD (University of California, San Francisco)<\/em><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Neal Sharpe, PhD (Eloxx Pharmaceuticals)<\/em><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Jeffrey Beekman, PhD (University Medical Center, Utrecht, Nederl\u00e4nderna)<\/em><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Steven M. Rowe, MD, MSPH (University of Alabama at Birmingham)<\/em>
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II. CFTR-genterapi: Progression till fas I-pr\u00f6vningar<\/strong><\/p>\n\n\n\n

Session II fokuserade p\u00e5 genetiska metoder - antingen genom att anv\u00e4nda genterapi f\u00f6r att ers\u00e4tta CFTR eller genom att anv\u00e4nda genredigering f\u00f6r att reparera CFTR-genen. Dessa metoder skulle vara effektiva f\u00f6r CFTR-nonsensmutationer, men de skulle ocks\u00e5 kunna till\u00e4mpas p\u00e5 alla CFTR-mutationer, vilket g\u00f6r dem mutationsagnostiska.<\/p>\n\n\n\n

F\u00f6redragsh\u00e5llare:<\/strong><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Paul McCray, MD (University of Iowa)<\/em><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Patrick Harrison, PhD (University College Cork, Irland)<\/em><\/p>\n\n\n\n

III. Terapier med nukleinsyror: Att leverera mRNA-, tRNA- och oligonukleotidinriktade metoder<\/strong><\/p>\n\n\n\n

Session III fokuserade p\u00e5 aspekter av CF-terapi som riktar sig mot nukleinsyror, inklusive transfer- och budb\u00e4rar-RNA. <\/p>\n\n\n\n

F\u00f6redragsh\u00e5llare:<\/strong><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Christopher Ahern, PhD (University of Iowa)<\/em><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Lulu Huang, PhD (Ionis Pharmaceuticals)<\/em><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 James Dahlman, PhD (Georgia Tech)<\/em><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 John Miller, PhD (Proteostasis Therapeutics)<\/em>
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IV. Att k\u00f6pa tid: Alternativa m\u00e5l och tillv\u00e4gag\u00e5ngss\u00e4tt<\/strong><\/p>\n\n\n\n

Session IV fokuserade p\u00e5 alternativa metoder som kan vinna tid f\u00f6r patienter med nonsensmutationer av CF. Dessa metoder skulle inte rikta sig direkt mot CFTR-genen, utan i st\u00e4llet minska skadorna i lungorna n\u00e4r sjukdomen fortskrider och fungera som en brygga tills mer omv\u00e4lvande behandlingar dyker upp f\u00f6r dem med nonsensmutationer av CF.<\/p>\n\n\n\n

F\u00f6redragsh\u00e5llare:<\/strong><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Robert Tarran, PhD (University of North Carolina at Chapel Hill, Spyryx Biosciences)<\/em><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Oren Rosenberg, MD, PhD (University of California, San Francisco)<\/em><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Barbara White, MD (Corbus Pharmaceuticals)<\/em><\/p>\n\n\n\n

\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 Martin D. Burke, MD, PhD (University of Illinois Urbana-Champaign)<\/em><\/p>\n\n\n\n

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Symposiets organisation m\u00f6jliggjorde en intim milj\u00f6 d\u00e4r m\u00e4nniskor kunde tala fritt och samarbeta. Och genom enskilda diskussioner blev det tydligt att det finns ett stort intresse f\u00f6r och engagemang i att utveckla behandlingar f\u00f6r nonsensmutationer vid CF.
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Symposiet f\u00f6rst\u00e4rkte detta behov av nya CF-behandlingar f\u00f6r personer med nonsensmutationer och underl\u00e4ttade denna str\u00e4van genom att p\u00e5skynda partnerskap och samarbeten.
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Emily's Entourage vill rikta ett stort tack till alla symposiets talare, deltagare och sponsorer. Energin under symposiet var p\u00e5taglig. Det k\u00e4ndes oerh\u00f6rt hoppfullt att uppleva \u00f6ppenheten, samarbetet och det starka engagemanget f\u00f6r nonsensmutationen CF fr\u00e5n alla i rummet. <\/p>\n\n\n\n

\"\"<\/figure><\/div>","protected":false},"excerpt":{"rendered":"

Emily\u2019s Entourage (EE) held its third scientific symposium, Therapeutic Development for Nonsense Mutations: The Final Frontier of CF, on September 25 at The Wistar Institute in Philadelphia, PA. The singular focus was to accelerate breakthroughs and a cure for the final 10% of the cystic fibrosis (CF) population without a targeted therapy with a focus… <\/p>\n

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