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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.

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

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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