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CUTIS
LAXA INTERNATIONALE
CUTIS
LAXA INTERNATIONALE
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Since AFM-Genethon started the research project « Cutis Laxa », in France, in 2002, sufferers’hope kept on growing. During our 1st Annual Information Day, on March 13th 2003, Martine Devillers’ and Pascal Soomer’s talks showed the project got into the swing of things. The network works well, even if new members are necessary, and if researchers still need more sufferers' samples.
The study in wich Dr Zsolt Urban took part concerning autosomal Recessive Cutis Laxa type II associated with CDG syndrom resulted in identifying a new mutation. It is a mutation on gene ATP6V0A2, leading to a loss of function of the a2 subunit of the proton prump that has an important role for fibroblasts. Thus as of today 4 mutations have been identified as causes of Cutis Laxa. It does appear that the various forms so far described (Dominant Autosomal, Autosomal Recessive type I and type II, linked to X and Acquired) do not represent all cases of Cutis Laxa, clinically or genetically. In years to come according to Zsolt Urban, we could certainly add the Dominant type II and Recessive type III and type IV. With regards to therapeutic avenues, Pascal Sommer has already isolated a molecule that seems to work. There is still much to do to get this confirmed, but what progress already in 7 years !!
Go and see the researchers' talks of the 3rd day of Cutis Laxa in 2008 and the Minutes of the Scientific Talks of 2011 to read all the details of the most recent findings. (Download Adobe Reader to read them in PDF file).
You can also go and visit the pages dedicated to research on Cutis Laxa on the website of Pittsburgh (USA) University Hospital.
To get in contact with doctors and researchers : Dr Christine BODEMER Dr Bert CALLEWAERT Dr Martine DEVILLERS
Dr Smaïl HADJ-RABIA Dr Pascal SOMMER Dr Zsolt URBAN
Biomedical research is very complex. It is a very particular world in which time has not the same value as in ours. A lot of time is necessary to bring research to a successful conclusion, and most of all to obtain the expected results. The School of DNA is a place where sufferers’ organisations, students and all those who wish it can learn what research really is. Marie-Claude BOITEUX had the great chance to take part in a training course.
It is not always easy to understand what researchers are talking about. To help you understand better, you can find some definitions at the end of the page What is Cutis Laxa ?You can also read the page Genetic Transmission which will explain to you, briefly, what it is, how it works. And, if you want to understand better what is researchers' work like, we invite you to read Marie-Claude Boiteux's report on the 3 days training session she attended at The School of DNA.
Go and visit GENESKIN page, european platform for people affected by rare genetic skin diseases. GENESKIN aims to disseminate knowledge and awareness for these diseases.