EURO-GENE-SCAN

European Genetic Disease Diagnostics

Coordinatore	KAROLINSKA INSTITUTET    more  Organization address address: Nobels Vag 5 city: STOCKHOLM postcode: 17177 contact info Titolo: Mr. Nome: Kim Cognome: Von Schoultz Email: send email Telefono: +46-8-524 860 71 Fax: +46-8-524 837 02
Nazionalità Coordinatore	Sweden [SE]
Totale costo	3˙822˙299 €
EC contributo	2˙913˙807 €
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   -   2011-12-31

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	KAROLINSKA INSTITUTET  Organization address address: Nobels Vag 5 city: STOCKHOLM postcode: 17177 contact info Titolo: Mr. Nome: Kim Cognome: Von Schoultz Email: send email Telefono: +46-8-524 860 71 Fax: +46-8-524 837 02	SE (STOCKHOLM)	coordinator	1˙054˙727.00
2	GATC BIOTECH AG  Organization address address: JAKOB STADLER PLATZ 7 city: KONSTANZ postcode: 78467 contact info Titolo: Mr. Nome: Peter Cognome: Pohl Email: send email Telefono: -15689 Fax: -16589	DE (KONSTANZ)	participant	749˙000.00
3	UNIVERSITY COLLEGE LONDON  Organization address address: GOWER STREET city: LONDON postcode: WC1E 6BT contact info Titolo: Mr. Nome: Kent Cognome: Lee Email: send email Telefono: +44(0)207 679 6296 Fax: +44(0)207 679 6502	UK (LONDON)	participant	450˙100.00
4	UPPSALA UNIVERSITET  Organization address address: SANKT OLOFSGATAN 10 B city: UPPSALA postcode: 751 05 contact info Titolo: Ms. Nome: Pirkko Cognome: Boox Email: send email Telefono: -4714787 Fax: -4714780	SE (UPPSALA)	participant	449˙980.00
5	INSTYTUT POMNIK CENTRUM ZDROWIA DZIECKA  Organization address address: Aleja Dzieci Polskich 20 city: WARSZAWA postcode: 4730 contact info Titolo: Prof. Nome: Ewa Cognome: Bernatowska Email: send email Telefono: +48 22 815 18 39 Fax: +48 22 815 7382	PL (WARSZAWA)	participant	210˙000.00

Mappa

 Word cloud

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

 Obiettivo del progetto (Objective)

'Molecular techniques have become more efficient, increasingly precise and much cheaper, resulting in an unprecedented discovery rate of inherited disease genes. In areas such as primary immunodeficiencies (PID), muscle disorders, growth deficiencies, hearing/vision impairments and metabolic diseases, very large numbers of different genes have been found to carry mutations in diseases with heterogeneous clinical presentation. For example, mutations in almost 150 genes have been found to cause PID. This means that even for well-defined subgroups of PID, mutations in different genes result in identical, or overlapping, phenotypes. Current mutation analysis is very complex, often with many different European laboratories being involved. Thus, individual laboratories carrying out mutation detection normally only cover a few per cent of all disease genes. Obtaining a correct diagnosis is both difficult and time-consuming. If multiple genes need to be analyzed, the cost rises proportionately. New sequencing approaches have been used for the analysis of whole genomes. We will adapt these technologies, based on massive, parallel sequencing, to specific disease fields. This will involve the development of an innovative multiplexing technology. The proposed prototype area is PID, where significant collaboration has already been underway in Europe over the last two decades. We estimate that, using high-throughput sequencing, the cost for analyzing all known 150 PID genes in a single run will be in the same range as the current cost for mutation detection in single disease genes. We will also develop chips to identify single nucleotide polymorphisms (SNPs) for the study of modifier genes. In addition, we will develop reverse-phase protein arrays for proteomics approaches in the diagnostics of PID patients during infancy. During the proposed project we will disseminate information and transfer the developed technologies to other disease areas.'