GEVAD

Rare and Common Genetic Variants analysis in ASDs and ADHD

 Coordinatore UNIVERSITAT DE BARCELONA 

 Organization address address: GRAN VIA DE LES CORTS CATALANES 585
city: BARCELONA
postcode: 8007

contact info
Titolo: Prof.
Nome: Jordi
Cognome: Alberch
Email: send email
Telefono: 34934035383
Fax: 34934035400

 Nazionalità Coordinatore Spain [ES]
 Totale costo 153˙417 €
 EC contributo 153˙417 €
 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-2009-IEF
 Funding Scheme MC-IEF
 Anno di inizio 2011
 Periodo (anno-mese-giorno) 2011-01-01   -   2012-12-31

 Partecipanti

# participant  country  role  EC contrib. [€] 
1    UNIVERSITAT DE BARCELONA

 Organization address address: GRAN VIA DE LES CORTS CATALANES 585
city: BARCELONA
postcode: 8007

contact info
Titolo: Prof.
Nome: Jordi
Cognome: Alberch
Email: send email
Telefono: 34934035383
Fax: 34934035400

ES (BARCELONA) coordinator 153˙417.00

Mappa


 Word cloud

Esplora la "nuvola delle parole (Word Cloud) per avere un'idea di massima del progetto.

susceptibility    exome    association    mirna    genes    autism    multiple    caused    adhd    rare    copy    disorders    variants    genetic    gevad    omim    asd   

 Obiettivo del progetto (Objective)

'Autism (OMIM 209850) and attention deficit/hyperactivity disorder (ADHD) (OMIM 143465) are severe neurodevelopmental disorders with a complex etiology, caused by the interaction of multiple susceptibility genes, environmental and epigenetic factors. Autism and ADHD are the most common developmental disabilities after mental retardation. Different genetic approaches have been used so far to identify the genetic factors underlying complex disorders including linkage studies, association studies, search for cytogenetic abnormalities or Copy Number Variants (CNVs) analysis. The results obtained through these methodologies in recent years indicate that complex diseases such as Autism or ADHD are likely to be caused by a combination of common variants and multiple rare variants at different loci. However, these efforts have resulted in a limited number of significant and replicated findings, that explain only a small part of the genetic contribution to these disorders. The GEVAD proposal (Rare and Common Genetic Variants analysis in ASD and ADHD) aim to identify the genetic factors involved in the susceptibility to Autism and ADHD. The proposal will take advantage of modern high-throughput DNA technologies and expert collaborations to carry out three main studies: 1) Case/Control association studies of SNPs located in miRNA genes and in miRNA-binding motifs of selected candidate genes for Autism and ADHD 2) Replication of rare Copy Number Variants (NRXN1, CNTNAP2,SHANK3, IMMP2L-DOCK4) in autism and exploration of these structural variants as susceptibility factors for ADHD 3) Exome mutation analysis of autistic patients. To our knowledge, this will be the first exome analysis performed in a complex disease. The results emerging from GEVAD will provide new insights into the genetic basis of ASD and ADHD and may point to potential therapeutic targets for these common neuropsychiatric disorders.'

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