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. Fields of science medical and health sciencesbasic medicineneurologymuscular dystrophies Keywords DNA chip Inherited NeuroMuscular Disorders diagnostics high-throughput molecular genotyping Programme(s) FP7-HEALTH - Specific Programme "Cooperation": Health Topic(s) HEALTH-2007-1.2-6 - High throughput molecular diagnostics in individual patients for genetic diseases with heterogeneous clinical presentation Call for proposal FP7-HEALTH-2007-B See other projects for this call Funding Scheme CP-FP - Small or medium-scale focused research project Coordinator INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE EU contribution € 400 000,00 Address Rue de tolbiac 101 75654 Paris France See on map Region Ile-de-France Ile-de-France Paris Activity type Research Organisations Administrative Contact Véronique Legros (Ms.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data Participants (13) Sort alphabetically Sort by EU Contribution Expand all Collapse all PARTNERCHIP SAS France EU contribution € 300 000,00 Address Rue pierre fontaine 4 4 91058 Evry See on map Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Administrative Contact Pascal Soularue (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data KAROLINSKA INSTITUTET Sweden EU contribution € 219 840,00 Address Nobels vag 5 17177 Stockholm See on map Region Östra Sverige Stockholm Stockholms län Activity type Higher or Secondary Education Establishments Administrative Contact Thomas Walstam (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data PHENOSYSTEMS SA Participation ended Belgium EU contribution € 90 148,98 Address Rue raymond lebleux, 114 batiment h3 1428 Lillois witterzee See on map Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Administrative Contact David Atlan (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data UNIVERSITY OF NEWCASTLE UPON TYNE United Kingdom EU contribution € 100 000,00 Address Kings gate NE1 7RU Newcastle upon tyne See on map Region North East (England) Northumberland and Tyne and Wear Tyneside Activity type Higher or Secondary Education Establishments Administrative Contact Douglas Robertson (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data NEMZETI NEPEGESZSEGUGYI ES GYOGYSZERESZETI KOZPONT Hungary EU contribution € 192 895,00 Address Albert florian ut 2-6 1097 Budapest See on map Region Közép-Magyarország Budapest Budapest Activity type Research Organisations Administrative Contact Istvan Manheim (Mr.) Links Contact the organisation Opens in new window Total cost No data ASSOCIATION GENETHON France EU contribution € 160 000,00 Address Rue de l internationale 1 bis 91002 Evry See on map Region Ile-de-France Ile-de-France Essonne Activity type Research Organisations Administrative Contact Jean-Philippe Marin (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data ASSOCIATION INSTITUT DE MYOLOGIE France EU contribution € 200 000,00 Address Boulevard de l hopital 47-83 75651 Paris See on map Activity type Research Organisations Administrative Contact Stéphane Roques (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data UNIVERSITA DEGLI STUDI DI FERRARA Italy EU contribution € 270 000,00 Address Via ariosto 35 44121 Ferrara See on map Region Nord-Est Emilia-Romagna Ferrara Activity type Higher or Secondary Education Establishments Administrative Contact Roberto Manservigi (Prof.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data ACADEMISCH ZIEKENHUIS LEIDEN Netherlands EU contribution € 250 000,00 Address Albinusdreef 2 2333 ZA Leiden See on map Region West-Nederland Zuid-Holland Agglomeratie Leiden en Bollenstreek Activity type Higher or Secondary Education Establishments Administrative Contact Ruud Esveld (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data JULIUS-MAXIMILIANS-UNIVERSITAT WURZBURG Germany EU contribution € 150 000,00 Address Sanderring 2 97070 Wuerzburg See on map Region Bayern Unterfranken Würzburg, Kreisfreie Stadt Activity type Higher or Secondary Education Establishments Administrative Contact Christian Gloggengiesser (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data TECHNISCHE UNIVERSITAET DRESDEN Germany EU contribution € 90 000,00 Address Helmholtzstrasse 10 01069 Dresden See on map Region Sachsen Dresden Dresden, Kreisfreie Stadt Activity type Higher or Secondary Education Establishments Administrative Contact Sven Kreigenfeld (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data UNIVERSITY COLLEGE LONDON EU contribution € 275 000,00 Address Gower street WC1E 6BT London See on map Activity type Higher or Secondary Education Establishments Administrative Contact Kent Lee (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data PHENOSYSTEMS SA Switzerland EU contribution € 209 851,02 Address Sentier des communs 1 1807 Blonay See on map Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Administrative Contact David Atlan (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data