Objective
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by severe infections with weakly virulent mycobacteria in otherwise healthy patients. All known 31 genetic etiologies are inborn errors of interferon gamma (IFN-g) immunity and collectively account for about half of the cases. We discovered private, hemizygous, predicted loss- of-function (pLOF) mutations in the X-linked ribosome recycling and reinitiation factor MCTS1 gene in five unrelated MSMD male patients. The connection with MSMD is surprising, because the MCTS1 protein is typically thought to be involved in housekeeping of translation machinery and translational control of gene expression. Although the genetic evidence alone is compelling, we propose to further prove causality by discovering the molecular and cellular mechanism by which MCTS1 deficiency underlies MSMD. This project will hence help to better understand the previously unappreciated connection between regulation of translation reinitiation and IFN-g immunity. The Casanova Group has worked on MSMD for more than 25 years and identified most inborn errors of IFN-g immunity. I have spent my PhD working on the basic molecular mechanism of MCTS1. I am therefore a highly suitable candidate to join the Casanova group and to work on this project.
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: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- engineering and technology environmental engineering waste management waste treatment processes recycling
- natural sciences biological sciences biochemistry biomolecules proteins
- natural sciences biological sciences genetics mutation
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Keywords
Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
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.
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HORIZON.1.2 - Marie Skłodowska-Curie Actions (MSCA)
MAIN PROGRAMME
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Topic(s)
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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.
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.
HORIZON-TMA-MSCA-PF-EF - HORIZON TMA MSCA Postdoctoral Fellowships - European Fellowships
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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.
(opens in new window) HORIZON-MSCA-2021-PF-01
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Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.
75015 Paris
France
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.