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Site d'informations sur la Dyskératose Congénitale et de soutien à la recherche médicale
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La Dyskératose Congénitale reste une maladie trop peu connue, de diagnostic difficile, et souvent fatale. Pour améliorer le soutien aux familles et la prise en charge thérapeutique des malades, les actions suivantes doivent être poursuivies et développées :
  • Permettre une meilleure diffusion des connaissances cliniques concernant cette maladie au sein de la communauté médicale et du public.
  • Aider la recherche, afin de permettre tout à la fois l’identification de nouveaux gènes (actuellement la majorité des malades atteints de formes autosomiques de DC ou de HH ne présentent pas de mutation dans les gènes connus) et une meilleure compréhension de la physiopathologie de la maladie, en particulier l’identification de facteurs modificateurs du phénotype en fonction d’un même génotype.
  • Améliorer les résultats des allogreffes de cellules souches hématopoïétiques par la mise au point de nouveaux conditionnements et la prévention, si possible, des complications tardives.
  • Poursuivre la recherche en matière de thérapie génique.

Auteurs  :

C. Hoareau-Aveilla & Y. Henry : Laboratoire de Biologie Moléculaire Eucaryote du CNRS, Université de Toulouse, UPS, 118 route de Narbonne, 31062 Toulouse cedex 09, France, Novembre 2007

T. Leblanc : Service de Pédiatrie à orientation hématologique  et Centre de Référence des aplasies médullaires constitutionnelles rares. Hôpital Saint-Louis, 1 avenue Claude Vellefaux, 75475 Paris Cedex 10, France, Novembre 2007

Informations médicales
Dernière modification: 28 juin 2008