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The identification of the molecular basis of human diseases of genetic origin is far from finished. The genes that are only rarely involved in these diseases remain to be identified. Identification of these genes is of paramount importance for understanding of the biological processes involved in diseases and for the development of diagnostic tools and for innovative therapeutics. The GIS Institute for Rare Diseases and IBiSA, together with the INSERM Institutes of Genetics and development and Neurosciences, neurology and psychiatry, and Genoscope - Centre National de Séquençage -, have decided to create a platform for the identification of mutations at Genoscope, and referred to as the “Mutations Platform“.
Starting in 2011, five other national public and private high throughput sequencing platforms will join this action, leading to the formation of a network of six high throughput sequencing platforms of high expertise and capacity. The network aims at meeting the needs of the scientific community for identification of rare mutations in human diseases. This new action will be referred to as the “Mutations Platform” initiative.
The “Mutations Platform” initiative carries out high throughput exome sequencing and/or region specific sequencing to identify rare mutations in human pathologies, with a particular focus on monogenic diseases.
The goal of the open call for projects launched by the “Mutations Platform“ initiative is to support research projects aimed at identifying genes involved in diseases whose molecular basis remains unknown.
The projects will be sent in response to the call for proposals launched 4 times a year by the grants secretariat, at GIS - Institut des Maladies Rares. They will be evaluated and selected by the Scientific Committee of the “Plateforme Mutations” initiative. The 2011 grant deadlines are planned for December 2010, and April, June, and October 2011. The Community will be notified through E-Mails and Website posting, with precise indications for submission deadlines to the grant secretariat . Any project received after the deadlines will be taken into consideration for the next session.
Each selected project will benefit from the expertise of the “Mutations Platform“ initiative for the refinement of the strategy to choose with respect to the objectives of the project and available material.
The costs of the consumables (arrays, fluids, etc) will be at the research team’s expense. The GIS-Institute for rare diseases, in association with the French Association against Myopathies, may provide partial or total financial support for consumables to the selected projects on rare diseases.
After completion of the submission form:
1/ Please, keep one copy for your files
2/ Send an electronic copy (word.doc format) to: [Email]
3/ Send one signed paper copy to:
Gis-Institut des Maladies Rares
96 rue Didot, 75014 Paris
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