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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.

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

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

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 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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