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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.

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

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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lastchecktime (2020-12-01 11:16:25) correctly updated