Skip to main content

Development of targeted DNA-Chips for High Throughput Diagnosis of NeuroMuscular Disorders

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.

Field of science

  • /medical and health sciences/basic medicine/neurology/muscular dystrophy

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
Address
Rue De Tolbiac 101
75654 Paris
France
Activity type
Research Organisations
EU contribution
€ 400 000
Administrative Contact
Véronique Legros (Ms.)

Participants (13)

PARTNERCHIP SAS
France
EU contribution
€ 300 000
Address
Rue Pierre Fontaine 4 4
91058 Evry
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Pascal Soularue (Dr.)
KAROLINSKA INSTITUTET
Sweden
EU contribution
€ 219 840
Address
Nobels Vag 5
17177 Stockholm
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Thomas Walstam (Mr.)
PHENOSYSTEMS SA

Participation ended

Belgium
EU contribution
€ 90 148,98
Address
Rue Raymond Lebleux, 114 Batiment H3
1428 Lillois Witterzee
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
David Atlan (Dr.)
UNIVERSITY OF NEWCASTLE UPON TYNE
United Kingdom
EU contribution
€ 100 000
Address
Kings Gate
NE1 7RU Newcastle Upon Tyne
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Douglas Robertson (Dr.)
NEMZETI NEPEGESZSEGUGYI KOZPONT
Hungary
EU contribution
€ 192 895
Address
Albert Florian Ut 2-6
1097 Budapest
Activity type
Research Organisations
Administrative Contact
Istvan Manheim (Mr.)
ASSOCIATION GENETHON
France
EU contribution
€ 160 000
Address
Rue De L Internationale 1 Bis
91002 Evry
Activity type
Research Organisations
Administrative Contact
Jean-Philippe Marin (Mr.)
ASSOCIATION INSTITUT DE MYOLOGIE
France
EU contribution
€ 200 000
Address
Boulevard De L Hopital 47-83
75651 Paris
Activity type
Research Organisations
Administrative Contact
Stéphane Roques (Mr.)
UNIVERSITA DEGLI STUDI DI FERRARA
Italy
EU contribution
€ 270 000
Address
Via Ariosto 35
44121 Ferrara
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Roberto Manservigi (Prof.)
ACADEMISCH ZIEKENHUIS LEIDEN
Netherlands
EU contribution
€ 250 000
Address
Albinusdreef 2
2333 ZA Leiden
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Ruud Esveld (Mr.)
JULIUS-MAXIMILIANS-UNIVERSITAT WURZBURG
Germany
EU contribution
€ 150 000
Address
Sanderring 2
97070 Wuerzburg
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Christian Gloggengiesser (Mr.)
TECHNISCHE UNIVERSITAET DRESDEN
Germany
EU contribution
€ 90 000
Address
Helmholtzstrasse 10
01069 Dresden
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Sven Kreigenfeld (Mr.)
University College London
United Kingdom
EU contribution
€ 275 000
Address
Gower Street
WC1E 6BT London
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Kent Lee (Mr.)
PHENOSYSTEMS SA
Switzerland
EU contribution
€ 209 851,02
Address
Sentier Des Communs 1
1807 Blonay
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
David Atlan (Dr.)