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REVERSEAUTISM SIGNED

Probing the Reversibility of Autism Spectrum Disorders by Employing in vivo and in vitro Models

Total Cost €

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EC-Contrib. €

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Partnership

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 REVERSEAUTISM project word cloud

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

slc7a5    functionally    etiological    causes    al    ketoacid    sequencing    caused    nature    critical    metabolism    amino    employ    poor    branched    serum    bcaas    clinical    defects    et    skills    hyper    interaction    preventable    encoding    converge    consequence    stereotypical    exploring    direct    2014    broad    trial    barrier    human    stem    biological    implying    classified    neurodevelopmental    novarino    cognition    genes    autism    therapeutic    ing    elucidating    link    social    flux    organoids    employing    communication    mutations    cerebral    possibility    brain    impairments    symptoms    treat    form    prompt    untangling    transporter    neurological    genetic    reinforces    group    kinase    biomarkers    homogenous    suggests    mediating    levels    spectrum    blood    acids    dehydrogenase    employed    individuals    bckdk    strategies    basis    potentially    outcome    gene    disorders    behaviours    exome    reverse    chain    neural    irreversible    atypically    science    heterogeneity    asd    cell    molecular    bcaa    maturation    2012    forms    molecules    pathology    repetitive    genetically    shown    reversible    circuits   

Project "REVERSEAUTISM" data sheet

The following table provides information about the project.

Coordinator
INSTITUTE OF SCIENCE AND TECHNOLOGY AUSTRIA 

Organization address
address: Am Campus 1
city: KLOSTERNEUBURG
postcode: 3400
website: www.ist.ac.at

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 1˙498˙394 €
 EC max contribution 1˙498˙394 € (100%)
 Programme 1. H2020-EU.1.1. (EXCELLENT SCIENCE - European Research Council (ERC))
 Code Call ERC-2016-STG
 Funding Scheme ERC-STG
 Starting year 2017
 Duration (year-month-day) from 2017-10-01   to  2022-09-30

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    INSTITUTE OF SCIENCE AND TECHNOLOGY AUSTRIA AT (KLOSTERNEUBURG) coordinator 1˙498˙394.00

Map

 Project objective

Autism Spectrum Disorders (ASD) are a group of neurological conditions characterized by stereotypical or repetitive behaviours as well as impairments in social interaction and communication skills, often of genetic basis. ASD have been classified as neurodevelopmental disorders, implying irreversible defects in the maturation of neural circuits. We have shown that mutations in the Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK) gene lead to a potentially preventable and reversible form of ASD (Novarino et al. Science 2012). The most direct consequence of BCKDK mutations is a hyper-metabolism of the branched chain amino acids (BCAAs), resulting in atypically low levels of serum and brain BCAAs. Recently, using whole exome sequencing we identified individuals with ASD carrying mutations in the gene SLC7A5, encoding for the transporter mediating BCAA flux across the blood brain barrier. This suggests that the BCAAs are critical for brain development and cognition and reinforces their link with ASD. The simple nature and availability of the BCAAs prompt raising the possibility that this group of amino acids may be employed to treat symptoms of other ASD. We aim at 1) elucidating the link between BCAAs, ASD, brain development and cognition; 2) exploring the possibility of employing the BCAAs to reverse symptoms caused by mutations of ASD-genes. The genetic analysis of ASD is untangling the etiological heterogeneity that may contribute to poor clinical trial outcome. However, recent studies, including our own (Novarino et al. Science 2014), show that genetic causes of neurological disorders converge along specific biological processes. Our third objective is to employ stem cell-derived human cerebral organoids to identify key molecular changes involved in the pathology of genetically distinct but functionally homogenous forms of ASD. These molecules may represent the target for future “broad spectrum” therapeutic strategies as well as potential biomarkers (aim 3).

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