Lead Participant: Institut National de la Sante et de la Recherche Medicale - INSERM

Title: Strategic and operational management.

Objectives:

• Ensure that all budgetary activities are performed correctly and according to the rules and regulations established by the European Commission and the consortium agreement.
• Ensure that received funds are correctly distributed and accounted for, including independent auditing.
• Ensure that the work and tasks are completed on time, within budget and satisfy the high-quality requirements.
• Ensure that reporting is performed on a regular basis in the most efficient and pragmatic way, according to EU Commission guidelines. 
• Provide all consortium members with all important, relevant and impacting information that can influence the project's outcome.

Lead Participant: Institut National de la Sante et de la Recherche Medicale - INSERM

Title: Chip design, synthesis and technical validation for known genes involved in NMDs.

Objectives:

• Design of a global CGH array containing genes for high-throughput CNV analysis of NMDs.
• Design of SC-chips containing genes for high-throughput SNP of each group of pathologies (LGMD, CMD, CMT, DMD).
• Validate chips when produced, with appropriate controls and patients' samples for each disease group.

Lead Participant: GENETHON

Title: Design, production and technical validation of candidate genes targeted chips.

Objectives:

• Indentification of a list of the 10-20 most likely candidate genes for not-yet identified forms of each of the three different groups of diseases: CMT, CMD and LGMD.
• Technical validation of these chips.
• Transfer of postitive genes screened by CGH-arrays on SC-chips for sequence determination.

Lead Participant: Phenosystems SA

Title: Bioinformatics.

Objectives:

• Develop key bioinformatic tools for the project.
• Develop a software for repeated sequence detection and quick probe design.
• Develop a software to allow a high throughput validation of variants found against various public databases.
• Develop and feed friendly databases generated with all the variants found.

Lead Participants: University of Wuerzburg and Karolinska Institute

Title: Chip validation and quality assessment.

Objectives:

• Development of protocols for extraction and purification of reference samples to be used for chip validation.
• Recruitment and characterisation of reference materials to be used for chip validation.
• Chip validation.
• Beta testing of chips by expert laboratories.

Lead Participant: Partner Chip

Title: Dissemination and technology transfer.

Objectives:

• Disseminating information on the project to the scientific community.
• Developing online tools that will enable project participants to work collaboratively.
• Enabling interaction with the scientific community via workshops and online forums.
• Implement an authority ensuring that knowledge and innovation will be properly managed and results exploitation promoted.
• Ensure appropriate exploitation of the knowledge generated in the project.

Lead Participant: Newcastle University

Title: Societal aspects.

Objectives:

• Setting up explicit mechanisms to deal with the ethical issues raised by the project.
• Ensuring gender equality questions are adequately addressed.
• Disseminating information on project outcomes to the stakeholder public (patients and families) and to the wider general public.
• Providing a forum where the public can feed back to the project partners where appropriate.