NMD-CHIP
Development of targeted DNA-Chips for High Throughput Diagnosis of NeuroMuscular Disorders
| Coordinatore | INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
Organization address
address: 101 Rue de Tolbiac contact info |
| Nazionalità Coordinatore | France [FR] |
| Sito del progetto | http://www.nmd-chip.eu/ |
| Totale costo | 3˙773˙723 € |
| EC contributo | 2˙907˙735 € |
| Programma | FP7-HEALTH
Specific Programme "Cooperation": Health |
| Code Call | FP7-HEALTH-2007-B |
| Funding Scheme | CP-FP |
| Anno di inizio | 2008 |
| Periodo (anno-mese-giorno) | 2008-10-01 - 2011-09-30 |
Partecipanti
| # | ||||
|---|---|---|---|---|
| 1 |
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
Organization address
address: 101 Rue de Tolbiac contact info |
FR (PARIS) | coordinator | 0.00 |
| 2 |
ACADEMISCH ZIEKENHUIS LEIDEN
Organization address
address: Albinusdreef 2 contact info |
NL (LEIDEN) | participant | 0.00 |
| 3 |
ASSOCIATION GENETHON
Organization address
address: RUE DE L INTERNATIONALE 1 BIS contact info |
FR (EVRY) | participant | 0.00 |
| 4 |
ASSOCIATION INSTITUT DE MYOLOGIE
Organization address
address: BOULEVARD DE L HOPITAL 47-83 contact info |
FR (PARIS) | participant | 0.00 |
| 5 |
JULIUS-MAXIMILIANS UNIVERSITAET WUERZBURG
Organization address
address: SANDERRING 2 contact info |
DE (WUERZBURG) | participant | 0.00 |
| 6 |
KAROLINSKA INSTITUTET
Organization address
address: Nobels Vag 5 contact info |
SE (STOCKHOLM) | participant | 0.00 |
| 7 |
ORSZAGOS KOZEGESZSEGUGYI KOZPONT
Organization address
address: GYALI UTCA 26-6 contact info |
HU (BUDAPEST) | participant | 0.00 |
| 8 |
PARTNERCHIP SAS
Organization address
address: RUE PIERRE FONTAINE 4 4 contact info |
FR (EVRY) | participant | 0.00 |
| 9 |
PHENOSYSTEMS SA
Organization address
address: SENTIER DES COMMUNS 1 contact info |
CH (BLONAY) | participant | 0.00 |
| 10 |
PHENOSYSTEMS SA
Organization address
address: "Rue Raymond Lebleux, 114 Batiment H3" contact info |
BE (LILLOIS WITTERZEE) | participant | 0.00 |
| 11 |
TECHNISCHE UNIVERSITAET DRESDEN
Organization address
address: HELMHOLTZSTRASSE 10 contact info |
DE (DRESDEN) | participant | 0.00 |
| 12 |
UNIVERSITA DEGLI STUDI DI FERRARA
Organization address
address: SAVONAROLA 9 contact info |
IT (FERRARA) | participant | 0.00 |
| 13 |
UNIVERSITY COLLEGE LONDON
Organization address
address: GOWER STREET contact info |
UK (LONDON) | participant | 0.00 |
| 14 |
UNIVERSITY OF NEWCASTLE UPON TYNE
Organization address
address: Kensington Terrace 6 contact info |
UK (NEWCASTLE UPON TYNE) | participant | 0.00 |
Mappa
Word cloud
Esplora la "nuvola delle parole (Word Cloud) per avere un'idea di massima del progetto.
Obiettivo del progetto (Objective)
'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.'
Introduzione (Teaser)
European researchers developed a high-throughput diagnostic method for neuromuscular disorders based on DNA arrays. By incorporating all affected and candidate genes, the partners of the NMD-CHIP project aimed to revolutionise and accelerate current diagnostic procedures.
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