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RTTOPHAGY SIGNED

"""Investigating autophagy enhancement as a therapeutic approach for the treatment of Rett syndrome."""

Total Cost €

0

EC-Contrib. €

0

Partnership

0

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 RTTOPHAGY project word cloud

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

data    skills    therapeutic    sequesters    nerudevepmental    disease    neurological    intellectual    neuronal    10000    genetic    restore    severe    individuals    group    synapses    translated    macromolecules    models    catabolic    disorders    population    neurodevelopmental    prominent    caused    worldwide    mutations    ultimately    causing    generalized    mental    id    accordingly    cellular    lysosomes    organelles    involvement    cells    profoundly    approved    preliminary    disability    variety    capability    unknown    providers    alterations    care    cure    impaired    girls    mecp2    linked    human    autophagy    molecules    rtt    events    3    accordance    burden    emerge    function    defective    disorder    rett    suggest    motor    treat    considerable    health    therapeutics    aberrant    synaptic    mainly    deficits    dysfunction    autophagosomes    families    researcher    mostly    molecular    social    lesion    delivers    dissect    signaling    degradation    devastating    participates    incidence    altered    restoring    form    lives    syndrome    clinical    samples    cascade    transmission   

Project "RTTOPHAGY" data sheet

The following table provides information about the project.

Coordinator		 OSPEDALE SAN RAFFAELE SRL 

Organization address
address: VIA OLGETTINA 60
city: MILANO
postcode: 20132
website: www.hsr.it

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 Italy [IT]
 Total cost 171˙473 €
 EC max contribution 171˙473 € (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 2019
 Duration (year-month-day) from 2019-06-03   to  2021-06-16

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    OSPEDALE SAN RAFFAELE SRL IT (MILANO) coordinator 171˙473.00

Map

 Project objective

Intellectual disability (ID) is a generalized neurodevelopmental disorder characterized by deficits in mental abilities, social and motor skills. ID affects about 2-3% of the general population and it is mostly caused by a genetic lesion. Accordingly, mutations in the X-linked MECP2 cause Rett syndrome (RTT), a devastating neurological disorder that, because of its incidence (1:10000), represents the most common form of severe ID in girls worldwide with no approved cure. RTT profoundly affect the lives of affected individuals and their families and represent a considerable burden for health care providers across Europe. While the molecular pathways causing RTT remain mainly unknown, it is recognized that they ultimately lead to prominent alterations of synaptic transmission and neuronal activity. Autophagy is a catabolic process that sequesters aberrant organelles and macromolecules into autophagosomes and delivers it to lysosomes for degradation. Autophagy participates in a variety of events in neuronal cells including synaptic growth and neuronal activity, however, its possible involvement in neurodevelopmental disorders is still mainly neglected. In accordance with a recent study applied to human samples, my preliminary data suggest that autophagy is altered in RTT. By using cellular models of the disease, this project aim at characterize the therapeutic potential of restoring the autophagy pathway in RTT. (i) I will dissect the defective autophagy signaling cascade; (ii) identify target molecules that restore the neuronal dysfunction and synapses transmission; (iii) provide therapeutic targets to treat RTT and other nerudevepmental disorders with impaired autophagy function. My results have the potential to be translated into therapeutics. This research will contribute to provide new clinical targets against RTT. The Experienced Researcher will emerge from the project with new skills, and the capability to lead her own research group.

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

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