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Investigating the pathogenic mechanisms underlying TUBB2B-related brain malformations using induced pluripotent stem cells and cerebral organoids.

Total Cost €


EC-Contrib. €






 MiniBRAIN project word cloud

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

hosted    leaders    genotypes    me    dynamics    figure    mutant    cos    brains    disorders    suggests    imba    underlying    highlights    employ    neuronal    preliminary    hypothesis    isogenic    wild    mts    normal    vienna    cortex    perform    mechanism    cycle    severe    organisation    pioneers    cas9    line    crispr    controls    mechanisms    structural    elucidate    genome    investigation    mt    co    embryonic    microtubules    phenotypes    malformations    cortical    keays    techniques    cerebral    neural    mini    abnormal    tubulin    roles    stem    recapitulate    encodes    cell    dr    subsequently    stemming    organising    mutations    community    certain    fibroblasts    lab    pluripotent    mutation    reputable    lineage    knoblich    examine    imp    cells    microscopy    functional    immunohistochemistry    scientific    communication    pathogenic    close    human    generate    disease    aggregated    gene    david    self    editing    technologies    data    tubb2b    organoid    global    proliferation    neurogenesis    patients    ipscs    migration    expressed    division    differentiated    impaired    brain   

Project "MiniBRAIN" data sheet

The following table provides information about the project.


Organization address
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 166˙156 €
 EC max contribution 166˙156 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2017
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2019
 Duration (year-month-day) from 2019-03-01   to  2021-02-28


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 


 Project objective

Mutations in TUBB2B are associated with a range of malformations of cortical development: severe structural brain disorders stemming from abnormal cerebral cortex formation. Functional investigation of TUBB2B mutations will enable us to elucidate distinct pathogenic mechanisms underlying various malformations and advance our understanding of normal brain development. TUBB2B is highly expressed during embryonic brain development. It encodes a major component of microtubules (MTs), which perform essential roles during neuronal proliferation, neuronal migration and cortical organisation. I have obtained preliminary data in non-neuronal cells that suggests certain (but not all) TUBB2B-related malformations result from impaired cell division during neurogenesis. This highlights a potential disease-specific mechanism. I will investigate this hypothesis using state-of-the-art induced pluripotent stem cells (iPSCs) and cerebral organoid (COs) technologies, more relevant to brain development. I will generate iPSCs from fibroblasts obtained from patients with specific TUBB2B genotypes and brain phenotypes. I will use CRISPR/Cas9 genome editing to generate isogenic controls (in addition to a generic wild type line). Mutant and control iPSCs will be differentiated into a neural lineage to study effects of mutations on cell cycle and MT dynamics. Subsequently, differentiated cells will be aggregated into COs; self-organising ‘mini-brains’ that recapitulate human brain development and disease. I will employ immunohistochemistry and microscopy to examine TUBB2B mutation effects on neuronal proliferation, migration and organisation. I will hosted by Dr David Keays (IMP, Vienna). His lab are global leaders in tubulin-gene research and work in close collaboration with the pioneers in CO techniques (Knoblich Lab, IMBA, Vienna). Dissemination and communication of results will impact the scientific community, promote EU-based research and establish me as a reputable figure in the field.

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

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