Storming Immune Monogenic Conditions through Multiomic and Gene Editing Approaches

通过多组学和基因编辑方法攻克免疫单基因条件

基本信息

  • 批准号:
    EP/Y032500/1
  • 负责人:
  • 金额:
    $ 33.22万
  • 依托单位:
  • 依托单位国家:
    英国
  • 项目类别:
    Research Grant
  • 财政年份:
    2024
  • 资助国家:
    英国
  • 起止时间:
    2024 至 无数据
  • 项目状态:
    未结题

项目摘要

The human immune system controls the efficiency to respond to infections and eliminate aberrant cells, such as cancer cells. Immunefunction depends on the balanced contribution of many genes, encoding for receptors, cytokines, cell signalling molecules andtranscription factors and are modulated by a wide range of environmental and epigenetic factors. Monogenic mutations for immunerelated 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 toleukemias (1/1,000-1/5,000). For a given mutated gene, IEI patients can display a wide range of phenotypic expressivity (fromasymptomatic to severely impaired) and different responses to treatments. Therefore, there is an unmet need to address the wideunderlying impact of IEI. Previous EU consortia have not addressed these questions in full. It is therefore needed a new generation ofresearchers, equipped with a complete set of scientific, technological and strategic skills; and a wide vision to face the outstandingchallenges in the IEI field. To this end, the IMMERGE MSCA DN combines the talent of leaders from different clinical and basic researchand biotech environments to train 11 doctoral candidates. Through our research activity and training activities, we will address keychallenges 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 ormodel IEI and develop pre-clinical models. With our strategy, IMMERGE will generate an outstanding network of professionals able todevelop impactful studies that will change the field, generate tools for personalised medicine and generate awareness in the societyand influence policy makers
人体免疫系统控制着对感染的反应效率,并消除异常细胞,如癌细胞。免疫功能依赖于许多基因的平衡贡献,这些基因编码受体、细胞因子、细胞信号分子和转录因子,并受到广泛的环境和表观遗传因素的调节。免疫相关基因的单基因突变,也被称为先天性免疫错误(IEI),为理解免疫适应性提供了独特的例子。IEI被单独视为罕见疾病,构成了一组400多种免疫疾病,其综合患病率与白血病相似(1/1,000-1/5,000)。对于给定的突变基因,IEI患者可以表现出广泛的表型表达性(从症状性到严重受损)和对治疗的不同反应。因此,解决环境影响评价的广泛潜在影响的需要尚未得到满足。以前的欧盟联盟并没有完全解决这些问题。因此,中国需要具备一整套科学、技术和战略技能的新一代研究人员;以及面对IEI领域的突出挑战的广阔视野。为此,IMMERGE MSCA DN结合了来自不同临床和基础研究以及生物技术环境的领导者的才能,培养了11名博士候选人。通过我们的研究活动和培训活动,我们将解决该领域的关键挑战:1)通过单细胞和批量多组学评估IEI在不同免疫细胞类型中的功能影响。2)开发计算工具,用于剖析特定IEI背后的细胞通路改变。3)对IEI进行基因校正或建模,并开发临床前模型。通过我们的战略,IMMERGE将建立一个杰出的专业人士网络,他们能够开展有影响力的研究,改变这个领域,为个性化医疗创造工具,提高社会意识,并影响政策制定者

项目成果

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Roser Vento Tormo其他文献

Roser Vento Tormo的其他文献

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{{ truncateString('Roser Vento Tormo', 18)}}的其他基金

Dissecting the regulatory mechanisms driving trophoblast cell fate
剖析驱动滋养层细胞命运的调节机制
  • 批准号:
    EP/Y009924/1
  • 财政年份:
    2023
  • 资助金额:
    $ 33.22万
  • 项目类别:
    Research Grant

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