{"id":9498,"date":"2021-01-05T23:21:08","date_gmt":"2021-01-06T04:21:08","guid":{"rendered":"https:\/\/nebula.org\/blog\/jour-maladie-rare\/"},"modified":"2021-02-20T20:47:47","modified_gmt":"2021-02-21T01:47:47","slug":"jour-maladie-rare","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/fr\/jour-maladie-rare\/","title":{"rendered":"Journ\u00e9e mondiale des maladies rares: ce que signifie \u00eatre rare"},"content":{"rendered":"\n

Edit\u00e9 par Christina Swords, Ph.D.<\/em><\/p>\n\n

Pour les patients atteints de maladies rares, c’est l’ignorance qui frappe le plus.<\/h2>\n\n

<\/p>\n\n

Comment la maladie changera-t-elle le fonctionnement de leur corps? Quels m\u00e9dicaments seront utilis\u00e9s lorsque seulement 5% des maladies rares ont un traitement approuv\u00e9 par la FDA? Comment vont-ils s’adapter \u00e0 vivre avec une maladie si unique, que seulement 50% des maladies rares ont m\u00eame un groupe de soutien d\u00e9di\u00e9? Alors qu’ils naviguent rendez-vous chez le m\u00e9decin apr\u00e8s rendez-vous chez le m\u00e9decin, les questions ne s’arr\u00eatent jamais – et le plus fort est \u00abpourquoi cela m’arrive-t-il?<\/p>\n\n

Aujourd’hui, le monde concentre son attention sur ces patients lors de la Journ\u00e9e mondiale des maladies rares. La Journ\u00e9e mondiale des maladies rares a lieu le dernier jour de f\u00e9vrier de chaque ann\u00e9e et est mise en avant dans les m\u00e9dias sociaux, les conf\u00e9rences l\u00e9gislatives, les \u00e9v\u00e9nements communautaires et vise \u00e0 sensibiliser le public \u00e0 la vie des personnes atteintes de maladies rares et aux d\u00e9fis auxquels elles sont confront\u00e9es. Ce jour-l\u00e0, les patients, les professionnels de la sant\u00e9, les soignants, les d\u00e9fenseurs de la sant\u00e9 et les d\u00e9cideurs se r\u00e9unissent pour discuter de nouvelles fa\u00e7ons d’am\u00e9liorer les soins et la qualit\u00e9 de vie des patients et de leurs familles.<\/p>\n\n

G\u00e9nomique des n\u00e9buleuses<\/a><\/strong> a entam\u00e9 des collaborations avec plusieurs organisations de maladies rares pour aider \u00e0 acc\u00e9l\u00e9rer les perc\u00e9es m\u00e9dicales.<\/p>\n\n

La communaut\u00e9 scientifique a pris le relais en coordonnant le projet sans fin qui analyse les g\u00e9nomes humains pour la cause exacte de la maladie. Au cours des dix derni\u00e8res ann\u00e9es, le co\u00fbt du s\u00e9quen\u00e7age d’un g\u00e9nome humain est pass\u00e9 de 10000 $ \u00e0 1000 $, invitant des foules de communaut\u00e9s de patients \u00e0 offrir leurs donn\u00e9es g\u00e9n\u00e9tiques aux chercheurs dans l’espoir de cr\u00e9er des mod\u00e8les de maladies complexes qui pourraient aider les soci\u00e9t\u00e9s pharmaceutiques et les soci\u00e9t\u00e9s de biotechnologie \u00e0 cr\u00e9er de meilleurs traitements. .<\/p>\n\n

Pour comprendre ces maladies: nous devons comprendre chaque lettre de leur constitution g\u00e9n\u00e9tique. Nous devons observer la maladie chez les patients de tous les sexes, \u00e2ges et ethnies au fil du temps. Nous devons \u00e9liminer tous les obstacles qui emp\u00eachent les individus de s’exprimer et de fournir leurs donn\u00e9es \u00e0 la recherche. Ces barri\u00e8res comprennent l’acc\u00e8s, la protection de la vie priv\u00e9e des patients, des mises \u00e0 jour continues sur les d\u00e9couvertes de la communaut\u00e9 scientifique \u00e0 la communaut\u00e9 des patients et une transparence in\u00e9gal\u00e9e pour donner aux patients le respect et la confiance qu’ils m\u00e9ritent.<\/p>\n\n

En fin de compte, Nebula cherche \u00e0 cr\u00e9er un moyen simple, pratique et s\u00e9curis\u00e9 de partager des donn\u00e9es g\u00e9nomiques personnelles avec des chercheurs m\u00e9dicaux tout en indemnisant les patients pour leurs contributions. Au cours de la prochaine ann\u00e9e, nous travaillerons avec des organisations comme G\u00e8nes mondiaux<\/a><\/strong> , Le mouvement de plaidoyer rare<\/a><\/strong> ,<\/a> <\/a>Le puissant<\/a><\/strong> , et Inspirer<\/a><\/strong> <\/a>pour recueillir des commentaires sur nos services de s\u00e9quen\u00e7age et l’exp\u00e9rience globale des patients utilisant notre plateforme.<\/p>\n\n

Que vous fassiez partie des centaines de milliers de personnes qui ont re\u00e7u un diagnostic de maladie rare, que vous soyez membre de l’un des groupes de patients atteints de maladies rares ou simplement quelqu’un qui souhaite contribuer \u00e0 changer des vies, vous pouvez \u00e9galement jouer un r\u00f4le crucial. en ce jour important.<\/p>\n\n

Pour plus d’informations sur les initiatives de Nebula dans le domaine des maladies rares, vous pouvez lire notre communiqu\u00e9 de presse ici<\/a> ou explorez les liens ci-dessous pour en savoir plus sur ce que signifie \u00eatre rare.<\/p>\n\n

Gagnez un kit de s\u00e9quen\u00e7age du g\u00e9nome entier gratuit en participant \u00e0 nos cadeaux ci-dessous:<\/h4>\n\n

Concours de s\u00e9quen\u00e7age Global Genes & Nebula Genomics<\/a><\/p>\n\n

The Rare Advocacy Movement & Nebula Genomics Sequencing Giveaway<\/a><\/p>\n\n

The Mighty & Nebula Genomics Sequencing Giveaway<\/p>\n\n

<\/p>\n\n

RESSOURCES<\/strong><\/p>\n\n

D\u00e9couvrez les faits sur les maladies rares sur G\u00e8nes mondiaux.<\/strong><\/a><\/p>\n\n

En savoir plus sur Le mouvement de plaidoyer rare.<\/strong><\/a><\/p>\n\n

Partagez votre histoire de maladie rare avec Le puissant.<\/strong><\/a><\/strong><\/p>\n\n

Trouvez votre communaut\u00e9 de maladies rares sur Inspire.com.<\/strong><\/a><\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"

Aujourd’hui, le monde concentre son attention sur ces patients lors de la Journ\u00e9e mondiale des maladies rares. La Journ\u00e9e mondiale des maladies rares a lieu le dernier jour de f\u00e9vrier de chaque ann\u00e9e et est mise en avant dans les m\u00e9dias sociaux, les conf\u00e9rences l\u00e9gislatives, les \u00e9v\u00e9nements communautaires et vise \u00e0 sensibiliser le public \u00e0 la vie des personnes atteintes de maladies rares et aux d\u00e9fis auxquels elles sont confront\u00e9es. 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