MASDUHID

Molecular Analysis of Synaptic Dysfunctions Underlying Human Intellectual Disabilities

Coordinatore	FUNDACIO PRIVADA INSTITUT DE RECERCA DE L'HOSPITAL DE LA SANTA CREU I SANT PAU    more  Organization address address: CALLE SANT ANTONI M CLARET 167 city: BARCELONA postcode: 8025 contact info Titolo: Ms. Nome: Hilda Cognome: Herrero Email: send email Telefono: +34 93 553 76 13
Nazionalità Coordinatore	Spain [ES]
Totale costo	100˙000 €
EC contributo	100˙000 €
Programma	FP7-PEOPLE Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013)
Code Call	FP7-PEOPLE-2011-CIG
Funding Scheme	MC-CIG
Anno di inizio	2012
Periodo (anno-mese-giorno)	2012-05-02   -   2016-05-01

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	FUNDACIO PRIVADA INSTITUT DE RECERCA DE L'HOSPITAL DE LA SANTA CREU I SANT PAU  Organization address address: CALLE SANT ANTONI M CLARET 167 city: BARCELONA postcode: 8025 contact info Titolo: Ms. Nome: Hilda Cognome: Herrero Email: send email Telefono: +34 93 553 76 13	ES (BARCELONA)	coordinator	100˙000.00

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 Obiettivo del progetto (Objective)

'Synapses of the central nervous system are the cellular structures mediating communication between neurons. Mouse mutations studies of synaptic proteins have shown how they ultimately modulate animal cognition and behavior. Furthermore, there is a growing body of data suggesting a central role of the synapse in neurodegenerative, mental and behavioral disorders. This project aims at understanding the synaptic molecular dysfunctions associated with intellectual disorders, particularly non-syndromic intellectual disability (NSID, formerly non-syndromic mental retardation); by doing so it also aspires at learning on the molecular mechanisms behind cognition. The current proposal also attempts at identifying proteins that can become pharmacological targets to treat intellectual disability and to study to what extend mental disorders can be reverted after birth. Mouse models of most synaptic proteins associated with NSID are already available to the scientific community; these will be a key resource to the project. The goal of this research is to study the synapse as a whole biological system and to characterize the changes it undergoes due to disease. That is why proteomics and bioinformatics will be used to quantitatively analyze the synaptic proteome in control and model animals. With the disease-related molecular dysfunctions characterized it might be possible to identify pharmacological targets and to test drugs in the animal models to look for phenotypic recovery. Finally, to investigate the reversibility of NSID, genetic rescue experiments will be performed. These experiments will consist in re-introducing the wild type copy of the gene mutated in the animal model as a conditionally expressed transgene. The transgene expression can be triggered at different developmental stages and the animal recovery can be evaluated for recovery. Identify the developmental stages at where recovery is possible will be key in case pharmacological treatment become available.'