Project description
Obesity and intellectual disability may result from a genetic 'overdose'
All the genetic material our body requires to make all its proteins is located on 23 paired chromosomes. They contain the code for all the proteins our body makes. All cells carry the entire code, but specific cells express specific proteins according to their functions. Down's syndrome, also known as trisomy-21, is a genetic disorder in which a person has three copies of chromosome 21 instead of the usual two. It is associated with a high risk of both severe obesity and intellectual disorder. On the hypothesis that the locus may be on chromosome 21, the EU-funded GO-DS21 project is investigating the genetic mechanisms of this comorbidity. Outcomes should benefit patients with Down's syndrome and the general population.
Objective
The aim of the project is to elucidate etiological mechanisms involved in the appearance of obesity, and intellectual disability comorbidities in Down syndrome (DS). With its incidence of 1 in 1000 births, DS offers a great opportunity to uncover common/novel mechanisms because it is associated with a higher risk to develop several obesity, and intellectual disability. The increased risk to develop this combination of comorbidities in DS, suggests that specific genetic or epigenetic mechanisms associated with trisomy 21 (the cause of DS) predispose to this comorbidity.
For this aim, GO-DS21 will have the following objectives: 1) To determine age-related comorbidity patterns observed over the early lifetime (before age 45) in persons with Down syndrome (WP1). 2) To identify specific physiological biomarkers (WP4), and regulatory and epigenetic signatures (WP5) in human, cellular and animal models. 3) To decipher the contribution of environmental factors (stress, diet, exercise) to trisomy 21 obesity/ID comorbidities in preclinical models (WP2, 3). 4) To investigate the effects of overdosage of three Hsa21 candidate genes (DYRK1A, MRAP, NRIP1) to explain comorbid patterns in mouse models (WP3). 5) To integrate multilevel data from human patients, preclinical and cellular models across different spatial and temporal scales of biological complexity using computational biology models and machine learning approaches (WP6). 6) To design new therapeutic interventions to reduce the penetrance of comorbidities in preclinical models (WP3 and WP4). This approach will help to improve diagnosis and understanding of prognostic factors, and will establish recommendations and targeted interventions to prevent or minimise comorbidities in persons with DS (WP7). Beyond the impact for patients with DS we expect that findings of this project will also be beneficial for patients in the general population.
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.
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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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H2020-EU.3.1. - SOCIETAL CHALLENGES - Health, demographic change and well-being
MAIN PROGRAMME
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H2020-EU.3.1.1. - Understanding health, wellbeing and disease
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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.
RIA - Research and Innovation action
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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) H2020-SC1-BHC-2018-2020
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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.
67404 Illkirch Graffenstaden
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.