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Investigating impact of schizophrenia-associated non-coding variants on enhancer activity using brain organoids

Total Cost €


EC-Contrib. €






 JS_SCZ project word cloud

Explore the words cloud of the JS_SCZ project. It provides you a very rough idea of what is the project "JS_SCZ" about.

perform    question    genome    neurodevelopmental    polymorphisms    patients    coding    genomics    genetics    genes    schizophrenia    verified    regulatory    transcription    cortical    genetic    located    inspect    susceptible    hypothesize    parallel    association    linked    function    risk    neurogenesis    plan    organoids    diseases    pave    sequences    diverse    assay    model    maturation    defects    neuronal    traits    unknown    mutations    stage    analyzing    revealed    central    expression    gene    differential    phenotype    human    reveal    regions    functional    active    variants    progenitors    experimental    massively    disrupt    reporter    developmental    investigation    map    symptoms    postulated    manifestation    scz    neural    mechanisms    alleles    mutant    consequence    enhancer    effect    combination    cell    disease    neurons    onset    unravel    majority    etiology    variation    adolescence    alter    possibly    occurs    enhancers    largely    neurodevelopmentally    what    cis    regulation    susceptibility   

Project "JS_SCZ" data sheet

The following table provides information about the project.


Organization address
address: DR BOHRGASSE 3
city: WIEN
postcode: 1030

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country Austria [AT]
 Total cost 186˙167 €
 EC max contribution 186˙167 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2018
 Funding Scheme MSCA-IF-EF-SE
 Starting year 2020
 Duration (year-month-day) from 2020-09-01   to  2022-08-31


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 


 Project objective

What makes us susceptible to a genetic disease is a central question in human genetics. Although, coding mutations have revealed the mechanisms of many genetic diseases, the same approach is not adequate to unravel the etiology of complex diseases such as schizophrenia (SCZ). Genome wide association studies revealed that the majority of SCZ-associated polymorphisms map to the non-coding regions and possibly alter gene expression. However, the functional consequence of these polymorphisms on gene regulation remains largely unknown. Although the onset of SCZ symptoms occurs in late adolescence, SCZ patients show differential expression of neurodevelopmental genes and defects in neuronal maturation. Therefore, it is postulated that the SCZ phenotype is a late manifestation of defects in neurogenesis and neuronal maturation. Based on the neurodevelopmental model of SCZ, I hypothesize that these SCZ-associated non-coding variants disrupt the function of enhancers active during neurogenesis/ neuronal maturation. Therefore, using cortical organoids as an experimental system, I plan to investigate 1) Which SCZ-associated non-coding polymorphisms are located in neurodevelopmentally active enhancers. 2) Whether and how these non-coding variants affect enhancer function. To this end, I will perform massively parallel reporter assay to inspect the enhancer activity of both control and mutant sequences of SCZ-linked cis regulatory elements in the neural progenitors and neurons of the developing cortical organoids. This assay will reveal any effect of non-coding variants on the level, cell type or developmental stage of reporter transcription. This effect can be then verified by analyzing the expression of associated genes to reveal how common, low disease-risk alleles contribute to SCZ-susceptibility. Furthermore, this novel combination of organoids and functional genomics will pave the way for investigation of non-coding variation for diverse human diseases and traits.

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The information about "JS_SCZ" are provided by the European Opendata Portal: CORDIS opendata.

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