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NMD-CHIP

financed

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Development of targeted DNA Chips for High Throughput Diagnosis of NeuroMuscular...

Development of targeted DNA Chips for High Throughput Diagnosis of NeuroMuscular Disorders 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-T... see more

30/09/2011

INSERM

4M€

Project Budget: 4M€

Project leader

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHER... No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

PARTICIPATION DEPralty Sin fecha límite de participación.

Ver 12 Participantes

Financing granted El organismo FP7 notifico la concesión del proyecto The day 2011-09-30 We do not have the information of the call

0% 77% 100%

characteristics of the participant

Este proyecto no cuenta con búsquedas de partenariado abiertas en este momento.

Private Information

No hay información privada compartida para este proyecto. Habla con el coordinador.

12 Participantes

INSERM

0.00€ | Leader

TUD

N.D. | participant

UNI WUERZBURG

N.D. | participant

Unife

N.D. | participant

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Project leader

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHER... No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Project Budget 4M€

participation deadline Sin fecha límite de participación.

Project description 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.

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