PSYCHCNVS

Copy number variations conferring risk of psychiatric disorders in children

Coordinatore	ISLENSK ERFDAGREINING EHF    more  Organization address address: Sturlugata 8 city: REYKJAVIK postcode: 101 contact info Titolo: Mr. Nome: Bjorgvin Cognome: Richardsson Email: send email Telefono: +354 570 1821 Fax: +354 570 1981
Nazionalità Coordinatore	Iceland [IS]
Sito del progetto	http://www.psych-cnv.eu/index.php
Totale costo	4˙291˙496 €
EC contributo	2˙999˙798 €
Programma	FP7-HEALTH Specific Programme "Cooperation": Health
Code Call	FP7-HEALTH-2007-B
Funding Scheme	CP-FP
Anno di inizio	2009
Periodo (anno-mese-giorno)	2009-01-01   -   2012-06-30

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	ISLENSK ERFDAGREINING EHF  Organization address address: Sturlugata 8 city: REYKJAVIK postcode: 101 contact info Titolo: Mr. Nome: Bjorgvin Cognome: Richardsson Email: send email Telefono: +354 570 1821 Fax: +354 570 1981	IS (REYKJAVIK)	coordinator	761˙558.00
2	KING'S COLLEGE LONDON  Organization address address: Strand city: LONDON postcode: WC2R 2LS contact info Titolo: Prof. Nome: David Cognome: Collier Email: send email Telefono: 442078000000 Fax: 442078000000	UK (LONDON)	participant	569˙940.00
3	NATIONAL RESEARCH CENTER OF MENTAL HEALTH - RUSSIAN ACADEMY OF MEDICAL SCIENCES  Organization address address: Kashirskoe sh 34 city: MOSCOW postcode: 115522 contact info Titolo: Dr. Nome: Vera Cognome: Golimbet Email: send email Telefono: 74959529040 Fax: 74959529040	RU (MOSCOW)	participant	545˙400.00
4	INSTITUT ZA MENTALNO ZDRAVLJE  Organization address address: PALMOTICEVA 37 city: BEOGRAD postcode: 11000 contact info Titolo: Prof. Nome: Smiljka Cognome: Popovic Deusic Email: send email Telefono: +381 11 330 7566 Fax: +381 11 323 1333	RS (BEOGRAD)	participant	240˙600.00
5	Tbilisi State Medical University  Organization address address: Vazha-Pshavela Ave 33 city: Tbilisi postcode: 177 contact info Titolo: Dr. Nome: Irakli Cognome: Evdoshvili Email: send email Telefono: +995 99 19 88 55 Fax: +995 32 39 66 65	GE (Tbilisi)	participant	240˙600.00
6	UKRAINE RESEARCH INSTITUTE OF SOCIAL AND FORENSIC PSYCHIATRY AND DRUG ABUSE OF THE MINISTRY OF HEALTH  Organization address address: FRUNZE STREET 103 city: KYIV postcode: 4080 contact info Titolo: Prof. Nome: Igor Cognome: Martsenkovsky Email: send email Telefono: +38 044 468 3215 Fax: +38 044 468 3215	UA (KYIV)	participant	240˙600.00
7	University Clinic of Psychiatry  Organization address address: Belgradska b.b. . city: Skopje contact info Titolo: Prof. Nome: Antoni Cognome: Novotni Email: send email Telefono: +389 2 312 13 18 Fax: +389 2 311 25 79	MK (Skopje)	participant	240˙600.00
8	LANDSPITALI UNIVERSITY HOSPITAL  Organization address address: Eiriksgata 5 city: REYKJAVIK postcode: 101 contact info Titolo: Prof. Nome: Hannes Cognome: Petursson Email: send email Telefono: +354 543 1000 Fax: +354 543 4815	IS (REYKJAVIK)	participant	160˙500.00

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 Obiettivo del progetto (Objective)

'The recent technical improvements for the study of the cytogenetic basis of disease have led to the identification of many microdeletion and microduplication syndromes. De novo copy number variants (CNVs) are seen more often than expected in autistic patients, and rare chromosomal aberrations are known to account for a small fraction of schizophrenia and bipolar disorder. Recurrent spontaneous mutations at multiple sites across the genome may be a prime cause of these disorders, and the reduced fertility associated particularly with autism and schizophrenia may, through selection pressure, maintain these variants at very low frequency. CNVs are large enough to be identified using cost efficient genome-wide search techniques, such as oligonucleotide arrays. In contrast, rare DNA mutations might confer a large proportion of the overall genetic risk, but cannot be easily identified at the present time. Genetic epidemiology suggests that autism, bipolar disorder, and schizophrenia are highly heritable and share susceptibility genes. However, the results of dense SNP array-based genome wide association scans for these disorders have been disappointing, as no high frequency risk alleles have been identified. The PsychCNVs consortium will apply oligonucleotide arrays for the large-scale interrogation of CNV variation in the human genome, focusing on people with autism and childhood onset schizophrenia and bipolar disorder, where CNVs are likely to be more common. This project follows on logically from our hypothesis-independent genome-wide SNP search for common variants, we now intend to systematically search for large, rare CNVs conferring high risk. The genetic risk conferred by CNVs will be estimated by genotyping samples from 2800 patients, to identify de novo or recent spontaneous mutations. Until low cost whole genome sequencing becomes available this approach offers the best current hope to identify causative genomic variants for these disorders.'