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Storming Immune Monogenic Conditions through Multiomic and Gene Editing Approaches

Project description

Training in genetic mutations affecting inborn immunity

The human immune system is crucial for fighting infections and removing abnormal cells. Inborn errors of immunity (IEI) are rare genetic mutations that affect immune function, with over 400 conditions that have a prevalence similar to leukaemia. These mutations lead to a range of symptoms and varying treatment responses. With the support of the Marie Skłodowska-Curie Actions programme, the IMMERGE project will bring together leaders from clinical, basic research, and biotech fields to train doctoral candidates. It will evaluate the impact of IEI on various immune cell types using single-cell and bulk multi-omics approaches. The project will develop computational tools to analyse altered cellular pathways associated with IEIs and create pre-clinical models for genetic correction or simulation.

Objective

The human immune system controls the efficiency to respond to infections and eliminate aberrant cells, such as cancer cells. Immune function depends on the balanced contribution of many genes, encoding for receptors, cytokines, cell signalling molecules and transcription factors and are modulated by a wide range of environmental and epigenetic factors. Monogenic mutations for immune-related genes, also known as Inborn Errors of Immunity (IEI), provide unique examples for understanding immune fitness. IEI, individually considered as rare diseases, constitute a group of >400 immune disorders with a combined prevalence similar to leukemias (1/1,000-1/5,000). For a given mutated gene, IEI patients can display a wide range of phenotypic expressivity (from asymptomatic to severely impaired) and different responses to treatments. Therefore, there is an unmet need to address the wide underlying impact of IEI. Previous EU consortia have not addressed these questions in full. It is therefore needed a new generation of researchers, equipped with a complete set of scientific, technological and strategic skills; and a wide vision to face the outstanding challenges in the IEI field. To this end, the IMMERGE MSCA DN combines the talent of leaders from different clinical and basic research and biotech environments to train 11 doctoral candidates. Through our research activity and training activities, we will address key challenges in the field: 1) To assess the functional impact of IEI in different immune cell types through single cell and bulk multiomics. 2) To develop computational tools for dissecting the altered cellular pathways underlying specific IEI. 3) To genetically correct or model IEI and develop pre-clinical models. With our strategy, IMMERGE will generate an outstanding network of professionals able to develop impactful studies that will change the field, generate tools for personalised medicine and generate awareness in the society and influence policy makers.

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Programme(s)

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Topic(s)

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Funding Scheme

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HORIZON-TMA-MSCA-DN - HORIZON TMA MSCA Doctoral Networks

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Call for proposal

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(opens in new window) HORIZON-MSCA-2022-DN-01

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Coordinator

FUNDACIO INSTITUT DE RECERCA CONTRA LA LEUCEMIA JOSEP CARRERAS
Net EU contribution

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.

€ 755 913,60
Address
CARRETERA DE CAN RUTI CAMI DE LES ESCOLES S/N
08916 Badalona
Spain

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Region
Este Cataluña Barcelona
Activity type
Research Organisations
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Total cost

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Participants (7)

Partners (19)

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