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Lutter contre les maladies rares et orphelines

STANFORD – Les maladies rares sont souvent négligées, pour la bonne et simple raison qu'elles sont rares. Cependant dans l'ensemble, elles touchent un nombre énorme de personnes. Aux ةtats-Unis, les maladies rares sont définies comme celles qui touchent moins de 200 000 personnes. Mais plus de 6 800 personnes souffrent de ces pathologies, qui dans le monde entier, touchent des centaines de millions de personnes. Et pourtant, environ 250 traitements seulement sont disponibles pour ces maladies.

Une raison à cela est que ce petit nombre de patients complique les études de ces maladies et les essais sur ces médicaments. En conséquence, les professionnels de santé savent souvent peu de choses sur la biologie et les symptômes de ces maladies.

J'ai participé cette année à un programme de la Journée des maladies rares en Californie. Le sujet était une collection obscure mais étendue de plus de 70 maladies causées par un type d'erreur génétique (celle qui se déroule dans la machinerie des cellules qui lie chimiquement les sucres aux protéines et aux lipides).

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