marie-hélène le ny |
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photographist |
I have been working on mouse models of Down Syndrome (DS) since 1990. DS does not result from the alteration of a specific gene, but from the presence of three copies of multiple, normal genes, hence the name trisomy 21. The only risk factor identified the world over is the advanced age of the mother at the time of pregnancy, but why there is no separation of the two copies of chromosome 21 at the time of fertilization remains unknown. Great progress has been made in the identification of the genes the overexpression of which results in intellectual disabilities in the newborn. This should hopefully allow establishing early pharmaceutical treatments that will control and even prevent mental handicap. In 1990, I created the French Association for Research on DS (Association Française pour la Recherche sur la Trisomie 21, AFRT) and in 2005 we chose March 21 as the date of the yearly Down syndrome World Day (Journée Mondiale de la Trisomie 21). |
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Jacqueline
London |
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