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Project name:

HORIZON-MSCA-2021-DN: A Spanish research institute is looking for SMEs with expertise in: genetic, epigenetic or immune biomarker development, development of mouse models and/or scientific communication

Status: In Preparation
Creation date: 14-10-2021

Project objectives:


A Spanish research institute devoted to leukaemia and other malignant blood diseases is looking for SMEs to join a MSCA-2021-DN proposal with the aim to characterize the epigenetic and transcriptomic heterogeneity of primary immunodeficiencies. SMEs with expertise in (1) genetic, epigenetic or immune biomarker development and/or 2) development of mouse models for selected genes for pre-clinical trials and (3) scientific communication are sought to complete the consortium



Monogenic mutations account for a wide range of immune-mediated diseases. These impact several relevant genes to hematopoietic function associated with differentiation and inflammatory signaling pathways. Recently, single cell and bulk epigenomic and transcriptomic methods are opening new opportunities to address the molecular basis of monogenic immune diseases, as they allow exploring the functional impact of mutations. To provide solutions to these conditions it is necessary: 1) to define the precise impact of these mutations in the epigenomic and transcriptomic profiles and 2) to establish whether the correction of these mutations restores the functionality of the relevant cell types.


The goal of the project is to create dedicated, interdisciplinary and intersectorial doctoral training for the study of monogenic traits leading to immune-mediated pathologies. To make this challenging training and research program feasible, the Spanish entity has gathered experts and experienced trainers from two sectors (academia and industry) and two research environments (clinic and basic). In this project, they will build and present some of European top experts in the immunological conditions, single cell omics methods, epigenetics, bioinformatics and gene correction. The consortium will focus on immune-mediated diseases because they represent a suitable paradigm for the impact of monogenic defects in different stages and branches of hematopoietic differentiation and for the wide range of clinical manifestations.


The Research Objectives of the project are:

- Objective 1: To characterize changes in cellular epigenetic and transcriptomic heterogeneity in different immune cell types from selected primary immunodeficiencies using single-cell sequencing methods.

- Objective 2: To develop and apply bioinformatic tools for data integration of the different omics datasets and use them for the identification of relevant cellular pathways, for the subsequent correction.

- Objective 3: To use in vitro and in vivo models for correction of selected genes and characterize the effects on the phenotype using the mentioned methodologies. Improve their toolset for research and innovation by developing novel pre-clinical models for immunodeficiencies.


To achieve these objectives, the consortium needs to include SMEs that could complement their expertise in immunology, single-cell omics, genetic and epigenetic methods for patient characterization. They are looking for SMEs  to host PhD students with expertise in the following fields:

-             Genetic, epigenetic or immune biomarker development

-             Development of mouse models for selected genes for pre-clinical trials

-             Scientific communication


The project will be submitted to the call HORIZON-MSCA-2021-DN mid-November 2021.

Expression of interest deadline: the 1st of November 2021

Call deadline: the 16th of November 2021

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