High Throughput Sequencing and Rare Diseases
Call for Proposals - 2015, July
WHOLE EXOME SEQUENCING (WES)
APPLICATION FORM
Submission deadline for proposals: September 23, 2015 (midnight)
This file must be sent:
by email to: ngs@fondation-maladiesrares.com
by post mail, one original signed version of the document to
Fondation maladies rares
Appel à projets ‘Séquençage à haut débit et maladies rares’
Plateforme Maladies Rares
96 rue Didot
75014 Paris
Instructions for sending documents:
-
The application must be written in English.
-
The present cover page must be removed.
-
Annexes should be included in the research project and not on separate documents.
-
The Word file must not exceed 2 Mo (compress any figures).
-
Document title: 2015-2-Name of applicant-WES-RD
-
Do not send pdf documents, or scanned documents.
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1. IDENTIFICATION OF THE PROJECT
Project title (maximum 120 signs):
Disease :
Group of diseases:
Research area:
- main:
- secondary:
Rare diseases project:
Yes
No
Number of samples for the present WES project:
Request (tick the appropriate boxes):
Monogenic disorder:
Yes
No
Genetic heterogeneity:
Yes
Likely
Multifactorial disorder:
Yes
No
No
Mode of inheritance of the disease
Ascertained
Anticipated

Autosomal dominant

Complete penetrance

Other:
Unknown
Autosomal recessive
Yes
No
X-linked dominant
Phenocopies
Yes
X-linked recessive
No
Cases

Have large genomic rearrangements been excluded (CGH arrays…)?
Yes
No

Have all known disease related-genes been tested?
Yes
No

Cases history:
o
Familial
Yes
No
-
Consanguineous
-
Large
-
Number of patients in each family (nbx/Fx; nby/Fy; etc):
-
Available DNA for: - patients (nb):
Small
Non consanguineous
families
Number of families:
- parents (Y/N):
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-
Genome wide linkage analyses performed:
Yes
No
Yes
No
Not feasible

Conclusive linkage

If yes, specify: - the region delineated (and size):
- the maximum lod score obtained:
o
Sporadic
Yes
No
-
Consanguineous
-
From a clinically homogeneous cohort
-
Number of patients:
-
Available DNA for: - patients (nb):
Non consanguineous
families
Yes
No
- parents (Y/N):
Principal investigator of the project (from a French team):
Name
First name
Position
Institution / department
Laboratory name
Identification of the laboratory (unit n°)
Name of the team (if relevant)
Name, first name of the lab. director
Name, first name / head of the team
Full postal address
Email address
Phone number
Fax
Team members involved in the project:
Name, first name
1
Title
Laboratory / Team
Role and contribution
PI
2
3
Number of personel involved in the project (person-months):
Partners/collaborations:
Name, first name
Title
Laboratory (complete
name, address)
Role and contribution
1
2
3
Administrative description (necessary in case of funding of the project):
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Legal entity signing the financial agreement
Name of the main institution and its
affiliation
Name of the administration
Juridical status (EPST, EPA, …)
Regional
delegated
administration /
presidency of university / direction of
hospital
Name, first name of the legal representative
Title of the legal representative
SIREN
Address
City
Zip code
Phone number
Fax
Signature of the principal investigator
I, the undersigned, full name, agree to be the principal investigator of the submitted project, as it is described
in the present application.
Electronic signature* :
Date
Signature of the head of the team
I, the undersigned, full name, head of the team Name of the team authorize, full name of the principal
investigator of the project to develop this project in my laboratory.
Electronic signature* :
Date
Signature of the laboratory director
I, the undersigned, full name, director of the laboratory Name of the laboratory authorize, full name of the
principal investigator of the project to develop this project and agree to allow such realisation in my laboratory.
Electronic signature* :
Date
* The electronic signature is a scan of the signature as a jpeg image.
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2. DESCRIPTION OF THE PROJECT
Abstract (not exceeding 1000 characters without spaces)
(Objectives, strategy, expected results and impacts.)
1. Objectives (1 page maximum, arial 10, single space)
Situate the project in its scientific context with indications 1 /on the targeted disease(s) and available
knowledge, 2/ acquired or preliminary results obtained by the applicant(s), 3/ Objectives.
Include 3 general references (reviews, articles directly dealing with the questions addressed by the project).
2. Description of samples available for the study (1 page)
Describe a) patients that will be analyzed in this project (family cases / trios / sporadic cases, etc.), with
precise information on clinical phenotyping, pedigree, linkage studies; b) numbers of biological samples,
quantity of available DNA and the criteria used for their selection for inclusion in the project.
*Informed consent from patients as well as the DNA samples (with quality checked) MUST be available at
time of project submission!*
3. Strategy (1 page)
Important: Clearly state and JUSTIFY the choice of the whole exome sequencing strategy and the choice
of patients included in the study (trios, number of affected sibs, controls…) - Specifically mention the
following criteria: modes of inheritance, family/sporadic cases, genetic heterogeneity, etc. in the choice of
strategy -.
4. Expertise of the laboratory in analysis, annotation and interpretation of sequences to be
produced in this project and strategy for validation of mutations (1/2 page)
Indicate how the interpretation of exome sequencing data, priorization of variants… will be managed, and
provide details on the collection of sample that, when warranted, will be used for the identification of other
mutations to confirm the results from this sequencing project.
5. Describe the downstream research you intend to perform, including possible collaboration, for
which this sequence information is a pre-requisite (1/2 page)
6. Existence of similar and/or competing projects (1/2 page)
Situation of the project in the international competition: priority of the project.
7. Main publications
List of main publications and/or patents of the last three years with particular attention to those related to the
project (from the principal investigator and associated teams).
Please specify any potential conflict of interest:
-
‘High throughput sequencing and rare diseases’- WES application form
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3. BUDGET INFORMATION
ONGOING funded projects related to the current application (principal investigator and associated
teams) which include funding for NGS
Name (coordinator
or associated team)
Name of the call for
projects/
Funding body/funding
amount
Project title
Project period
* Add as many columns as needed
Projects with requested funding for NGS related to the current application UNDER EVALUATION
(principal investigator and associated teams)
Name (coordinator
or associated team)
Name of the call for
projects/
Source/funding amount
Project title
Project period
* Add as many columns as needed
Previous funding by GIS-Institut des maladies rares or by Fondation maladies rares of sequencing
projects since 2009
Name (coordinator
or associated team)
Project title
Call session
Funding amount
Report
Final / Progress
* Add as many columns as needed
*Please mention all the funded projects of the TEAM and provide a detailed report on the results and
impacts for each project (please fill out one report sheet per project)*
Note that if this item is not fully answered, the submitted project will not be considered for funding.
‘High throughput sequencing and rare diseases’- WES application form
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