High throughput sequencing and Rare Diseases
"Plateforme Mutations" initiative

Submission form
Selected Projects
Samples requirements

Understanding the molecular basis of human diseases of genetic origin is far from being achieved. It remains, in particular, to identify the genes that are the most rarely involved. Identification of these genes is of paramount importance to elucidate the pathogenic mechanisms of the diseases and for the development of diagnostic tools and of innovative therapeutics.
In 2009 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 -, decided to create a platform of high throughput sequencing for the identification of mutations, settled at Genoscope, and referred to as the “Plateforme Mutations".
In 2011 five other national public and private high throughput sequencing platforms have joined this action, referred now to as the “Plateforme Mutations” initiative, leading to the rise of a network of six platforms of high expertise and capacity. The network aims at meeting the growing needs of the scientific community to use this new technology for the identification of genes involved in human diseases, with a particular focus on monogenic diseases.
The goal of the open call for proposals launched by the “ Plateforme Mutations “ initiative is to support research projects aimed at identifying – by the use of high throughput exome sequencing and/or region specific sequencing - genes involved in rare diseases whose molecular basis remains unknown.

OPEN CALL FOR PROPOSALS 2012 :

• PROPOSAL SUBMISSION :

The projects will be sent in response to the call for proposals launched 3 times a year by the GIS - Institut for Rare Diseases. They will be evaluated and selected by the Scientific Committee of the “Plateforme Mutations” initiative. The selection results will be communicated by mail to the principal investigator.
* Please notify in the proposal any possible conflict of interest *
* Applicants resubmitting projects are required to provide a detailed answer to the comments provided by the Scientific Committee at the previous session and highlight changes in the revised version. *
*Please fill out one submission form per independent project. *

• CALL DATES FOR 2012 (Deadlines for submitting projects) :

1. session I : December 21, 2011
   
2. session II : Mai 2, 2012
   
3. session III : September 3, 2012
   

• FUNDING

The GIS-Institute for rare diseases, in association with the French Association against Myopathies, may provide financial support for consumables (arrays, fluids, etc.) and the services provided by the sequencing plateforms to the selected projects on rare diseases. The funding provided by GIS will depend on the sum of three criteria : the total project cost per team, the availability of other funding sources and the amount of previous funding by GIS. Thus, (co-) funding by GIS will vary from 50 to 100% of the incurred cost of the project.

• ACCESS TO PLATFORMS

The GIS-Institute for rare diseases determines on which platform each selected project will be directed, in order to optimize the handling of projects by each platform of the network according to their capacity and calendar with the aim to deliver the results as soon as possible. Each selected project will benefit from the expertise of the “Plateforme Mutations“ initiative for the refinement of the strategy to choose with respect to the objectives of the project and available material.

• DNA SAMPLES

DNA samples (quality checked) MUST be available at time of project submission and sent to the platform within one month after reception of the approval letter from GIS. If DNA samples are not ready, the project will be reviewed at the next session. It must be stressed that in no case the number of DNA samples can be smaller than that specified in the original application, except if decided by the Scientific Committee.

• COMMUNICATION

The title of the selected projects and name of their principal investigator will be published on the web site of the GIS-Institute for rare diseases (http://www.institutmaladiesrares.net) and of the “Plateforme Mutations” at Genoscope. (www.cns.fr/spip/High-throughput-sequencing-and.html)
Acknowledgement Policy : It is requested that projects funded by GIS must be acknowledged in all publications and communications. Please send us the reference of the publication.

 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 :