Objective
The objective of the iGENEE project (Integrated Genetic Networks for Epileptic Encephalopathies) is the identification of pathways and genetic drivers for childhood epileptic encephalopathies (EE) by integrating whole-exome sequencing and gene network approaches. It will be supervised by Dr Petretto, Head of the Integrative Genomics and Medicine Group at the MRC Institute of Clinical Sciences, and co-supervised by Dr Johnson, Deputy Head of the Centre for Clinical Translation of Brain Sciences and member of the Epi4K Consortium, both at Imperial College London. I will analyse exome-sequence data generated by the Epi4K/EPGP Consortium in patients with classical EE (n=264 probands) and their parents. Initial analyses identified Sanger-confirmed de novo Single Nucleotide Variants (SNV) in 9.5% of EE probands (Epi4K Consortium et al. Nature, 2013), but further analyses indicated that an additional 90 EE genes are present among the remaining 304 Sanger confirmed de novo SNVs in this patient cohort. To identify these causal mutations and the underlying convergent pathways for EE, I will utilize an integrated systems-level network approach as follows: (1) build gene co-expression networks from human and rodent brain transcriptomes to identify differentially expressed networks from various brain regions and at different stages of brain development; (2) connect gene networks to EE, by testing for enrichment of mutations using the Epi4K exome-sequence data; (3) investigate candidate networks enriched for EE susceptibility variants, by testing if the mutations disrupt the network at a protein-protein interaction level; (4) map key regulatory genes of the EE-associated co-expression networks, using Bayesian methods developed in Dr Petretto’s lab and (5) perform functional validation experiments of the regulatory genes identified. This project will provide an innovative, highly integrated approach to facilitate novel drug development for these devastating conditions.
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.
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.
- medical and health sciences basic medicine pharmacology and pharmacy drug discovery
- natural sciences biological sciences biochemistry biomolecules proteins proteomics
- natural sciences mathematics applied mathematics statistics and probability bayesian statistics
- natural sciences biological sciences genetics mutation
- natural sciences biological sciences genetics nucleotides
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Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
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.
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.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
FP7-PEOPLE-2013-IEF
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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.
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.
Coordinator
SW7 2AZ LONDON
United Kingdom
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