Skip to main content
Go to the home page of the European Commission (opens in new window)
English English
CORDIS - EU research results
CORDIS
Content archived on 2024-06-18

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.

Fields of science (EuroSciVoc)

CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.

You need to log in or register to use this function

Keywords

Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)

Programme(s)

Multi-annual funding programmes that define the EU’s priorities for research and innovation.

Topic(s)

Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.

Call for proposal

Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.

FP7-HEALTH-2007-B
See other projects for this call

Funding Scheme

Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.

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
Links
Total cost

The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.

No data

Participants (13)

My booklet 0 0