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Information and medical research site about Dyskeratosis Congenita
Bibliographie :

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Dyskeratosis congenita remains a too little known disease, difficult to diagnose  and often fatal. To improve support of families and patient care, the following endeavours must be continued and developed :
  • Increasing the diffusion of pertinent clinical information concerning this disease among the scientific community and the general public.
  • Supporting research, to allow the identification of new  genes (at present, the majority of patients affected by autosomal forms of DC or HH do not display mutations in known genes) and further our understanding of the factors that can alter the symptoms of patients carrying the same mutation.
  • Improving the results of allogenic haematopoietic stem cell transplantations by the development of novel conditioning regimens and better treatments for post- transplantation complications.
  • Continuing gene therapy projects.

Authors  :

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.
Medical informations
Last modified: novembre 26,  2007