Objective
Friedreich ataxia (FRDA) is a devastating neurodegenerative orphan disease that affects children and young adults, and has no approved therapy. The disease progressively brings patients to severe disability and significantly reduces life expectancy. The genetic defect underlying the disease causes FRDA patients to produce only low amounts of the mitochondrial protein frataxin, compared to normal subjects. Low frataxin results in the accelerated death of peripheral sensory neurons, causing the disease. Goal of any tentative specific therapy is therefore to increase frataxin levels in FRDA patients. Building on our original discovery that unveiled the mechanism of physiological frataxin degradation, we are developing new chemical entities that manage to increase frataxin in FRDA patients cells by preventing the degradation of frataxin. This effort is currently funded by an ERC Advanced Grant (Friedreich Ataxia Seeks Therapy – FAST, project number 293699).
We now plan to bring some of the most promising compounds emerging from the above mentioned ERC-funded project, to the proof of concept (POC) of efficacy in living sensory neurons derived from FRDA patients. This will be achieved by demonstrating that our compounds are able to increase frataxin in sensory neurons generated from patient-derived induced pluripotent stem cells. A defined path for the further de-risking and development of compounds that have reached the POC stage, has been discussed together with Cydan Development, the leading orphan drug accelerator, and the VC firm Kurma Partners.
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.
- natural sciences biological sciences biochemistry biomolecules proteins
- medical and health sciences medical biotechnology cells technologies stem cells
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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.
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H2020-EU.1.1. - EXCELLENT SCIENCE - European Research Council (ERC)
MAIN PROGRAMME
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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.
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.
ERC-POC - Proof of Concept Grant
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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) ERC-2015-PoC
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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.
00133 Roma
Italy
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.