Up2Europe est un accélérateur d’idées pour des projets de coopération.
La plateforme Ma Région Sud fait partie de l'écosystème de Up2Europe qui permet de booster la coopération à un niveau supérieur!
Besoin d'aide ? La Région Sud vous accompagne
Laissez-vous guider par notre équipe d'experts ! Saisissez votre mail et nous reviendrons vers vous rapidement
Development of targeted DNA-Chips for High Through.. (NMD-Chip)
Development of targeted DNA-Chips for High Throughput Diagnosis of NeuroMuscular Disorders
(NMD-Chip)
Date du début: 1 oct. 2008,
Date de fin: 30 sept. 2011
PROJET
TERMINÉ
Inherited Neuromuscular Diseases (NMD) form a large group of diseases including Limb-Girdle Muscular Dystrophies (LGMD), Congenital Muscular Dystrophies (CMD), Duchenne and Becker Muscular Dystrophies (DMD/BMD), or Charcot-Marie-Tooth disease (CMT). Within a given disease group genetic and clinical heterogeneity is the hallmark. The precise diagnostic of neuromuscular diseases thus requires extensive clinical examination and targeted complementary tests. Additionally, since many of the disease causing mutations are known, molecular and genetic tests are performed to confirm and precise the diagnostic. According to presently available technologies, this is highly complex and time consuming. Thus, many patients remain devoid of genetic confirmation of their disease. More importantly, new cutting edge therapies cannot and will not be possibly envisaged in absence of a precise genetic diagnosis. New molecular diagnosis tools, enabling quick, reliable and cost-effective sequencing of numerous NMD genes are thus required. The development of such tools would allow performing the genetic diagnostic of NMDs patients. DNA chips have the potential to address this issue, in a time and cost effective way. The goal of this project is to i) design and validate a DNA Chip for sequencing genes responsible for LGMDs, CMDs, DMD/BMD, and CMTs, and ii) use the DNA Chip technology to identify new genes/mutations involved in these inherited NMD and increase the molecular diagnosis/patients ratio. This approach will be based on a gene candidate approach. NMD-Chip will thus lead to the development of a novel sensitive and reliable (98%) diagnostic tool, with time and cost effectiveness dedicated to neuromuscular disorders. In total, NMD-Chip, based on human genome knowledge and an advanced read out technology, will give patients an easy access to molecular diagnosis and will thus allow them to benefit from cutting edge therapies which are currently developed.
Accédez au prémier réseau pour la cooperation européenne
Se connecter
Bonjour, vous êtes sur la plateforme Région Sud Provence-Alpes-Côte d’Azur dédiée aux programmes thématiques et de coopération territoriale. Une équipe d’experts vous accompagne dans vos recherches de financements.
Contactez-nous !
Contactez la Région Sud Provence-Alpes-Côte d'Azur
Vous pouvez nous écrire en Anglais, Français et Italien