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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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dimanche, 13 mai 2007 |
- Study ‘ Expression of Incontinentia Pigmenti in adults’: this study is part of a PHRC ( hospital project of clinical research) and has concerned 25 adults ewamined at Necker Hospital, Paris. The results of this study will be known after the scientific article written as a conclusion is accepted ( first semester, 2007)
- Setting up of a work team at Necker Sick Children Hospital to sudy the various forms of epilepsy in children with IP. The team wishes first to collect documents on the exams prescribed to children with IP ( IRM, EEG). This should lead eventually to the elaboration of a specific treatment of epilepsy for children with IP.
- February 2008: Christine Bodomer set up a team of clinical work on IP (neurology, radiology, ophthalmology, stomatology and dermatology). They aim at a precise assessment of the patients and their medical documents (history, evolution,treatment) in close contact with the medical teams in charge of the patients so far. Their goal is clinical research and no quick repercussions in terms of new treatment can be expected. However the study could lead to a new medical approach, especially concerning convulsions
- If you wish to contribute to the study , see : Neurological study.
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dimanche, 13 mai 2007 |
60% of the funds spent for researching on rare deceases are private. Incontinentia Pigmenti International Foundation (IPIF), headquartered in New York, set up the team of researchers whose work led to the identification of the Nemo gene in 2000. |
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