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Incontinentia Pigmenti France - maladie rare

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Research achievements on IP Print E-mail
dimanche, 13 mai 2007
  • 2000: The Neme gene responsible for the desease and the most frequent anomaly in the gene, the
    re-arrangement (80% cases) are identified thanks to international scientific collaboration including France (INSERM, CNRS, Institut Pasteur), Germany, Great Britain, Italyand the USA. A publication on the subject is made on 25 May 2000.
  • 2001: The PCR test showing the anomaly in the Nemo gene is elaborated. Test of  the non activation of the X chromosome in women with IP.
  • 2004: A prenatal diagnosis is elaborated and used under the control of a scientific council.
  • 2006:  A  pre-implant diagnosis is elaborated which makes it possible to detect the decease in the embryo, in vitro, before it is implanted in the uterus.

Incontinentia Pigmenti could act as a model for other deseases. Indeed the Nemo gene is known to activate the main cell tracks involved in growth, immune and inflammatory responses and a number of other functions. By studying those, researchers hope to get a better understanding of the biological processes controlled by the gene and how the dysfunction of Nemo leads to the various clinical symptoms of the desease.

 

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  « l’Assemblée Générale Ordinaire de l’association aura lieu le samedi 24 mars de 10h à 16h . Dans les locaux de l’Alliance Maladies Rares, Hôpital Broussais 96, rue Didot – 75014 Paris .Si vous désirez davantage d’informations, vous pouvez contacter Jacques Monnet au 04 78 35 96 32 Ou Véronique Douillet au 01 40 96 97 88 »