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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.

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

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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