TECHGENE

High throughput molecular diagnostics in individual patients for genetic diseases with heterogeneous clinical presentation

 Coordinatore STICHTING KATHOLIEKE UNIVERSITEIT 

 Organization address address: GEERT GROOTEPLEIN NOORD 9
city: NIJMEGEN
postcode: 6525 EZ

contact info
Titolo: Mr.
Nome: Wim
Cognome: Van Oijen
Email: send email
Telefono: +31 24 3619419
Fax: +31 24 3540529

 Nazionalità Coordinatore Netherlands [NL]
 Totale costo 3˙856˙680 €
 EC contributo 2˙997˙010 €
 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) 2009-02-01   -   2012-01-31

 Partecipanti

# participant  country  role  EC contrib. [€] 
1    STICHTING KATHOLIEKE UNIVERSITEIT

 Organization address address: GEERT GROOTEPLEIN NOORD 9
city: NIJMEGEN
postcode: 6525 EZ

contact info
Titolo: Mr.
Nome: Wim
Cognome: Van Oijen
Email: send email
Telefono: +31 24 3619419
Fax: +31 24 3540529

NL (NIJMEGEN) coordinator 947˙400.00
2    ACADEMISCH ZIEKENHUIS LEIDEN

 Organization address address: Albinusdreef 2
city: LEIDEN
postcode: 2333 ZA

contact info
Titolo: Mr.
Nome: Olivier
Cognome: Swart
Email: send email
Telefono: 0031 715269567
Fax: 0031 715268275

NL (LEIDEN) participant 291˙150.00
3    KATHOLIEKE UNIVERSITEIT LEUVEN

 Organization address address: Oude Markt 13
city: LEUVEN
postcode: 3000

contact info
Titolo: Ms.
Nome: Maria
Cognome: Vereeken
Email: send email
Telefono: +32 16326504
Fax: + 32 16326515

BE (LEUVEN) participant 283˙320.00
4    EBERHARD KARLS UNIVERSITAET TUEBINGEN

 Organization address address: GESCHWISTER-SCHOLL-PLATZ
city: TUEBINGEN
postcode: 72074

contact info
Titolo: Dr.
Nome: Holm
Cognome: Graessner
Email: send email
Telefono: 4970710000000
Fax: 497071000000

DE (TUEBINGEN) participant 265˙650.00
5    FUNDACIO CENTRE DE REGULACIO GENOMICA

 Organization address address: CARRER DOCTOR AIGUADER 88
city: BARCELONA
postcode: 8003

contact info
Titolo: Ms.
Nome: Elisenda
Cognome: Folch
Email: send email
Telefono: +34 933161241
Fax: +34 933969983

ES (BARCELONA) participant 222˙450.00
6    UNIVERSITA DEGLI STUDI DI TRIESTE

 Organization address address: PIAZZALE EUROPA 1
city: TRIESTE
postcode: 34127

contact info
Titolo: Dr.
Nome: Elisabetta
Cognome: Somma
Email: send email
Telefono: +39 040 3785543
Fax: +39 040 639528

IT (TRIESTE) participant 193˙650.00
7    Nome Ente NON disponibile

 Organization address address: VIALE BENEDUCE 10
city: CASERTA
postcode: 81100

contact info
Titolo: Dr.
Nome: Emilia
Cognome: Uccello
Email: send email
Telefono: -815665795
Fax: -815667638

IT (CASERTA) participant 175˙650.00
8    FONDAZIONE TELETHON

 Organization address address: VIA VARESE 16/B
city: ROMA
postcode: 185

contact info
Titolo: Ms.
Nome: Irene
Cognome: Mearelli
Email: send email
Telefono: -644015269
Fax: -644119185

IT (ROMA) participant 154˙800.00
9    UNIVERZITA KARLOVA V PRAZE

 Organization address address: Ovocny trh 5
city: PRAHA 1
postcode: 11636

contact info
Titolo: Ms.
Nome: Ivana
Cognome: Funkova
Email: send email
Telefono: -24433083
Fax: -24433102

CZ (PRAHA 1) participant 149˙900.00
10    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)

 Organization address address: 101 Rue de Tolbiac
city: PARIS
postcode: 75654

contact info
Titolo: Ms.
Nome: Cedrine
Cognome: Pederiva
Email: send email
Telefono: -62748367
Fax: -61319724

FR (PARIS) participant 124˙969.00
11    THE UNIVERSITY OF MANCHESTER

 Organization address address: OXFORD ROAD
city: MANCHESTER
postcode: M13 9PL

contact info
Titolo: Ms.
Nome: Kerry
Cognome: Chantrey
Email: send email
Telefono: +44 161 275 2441
Fax: +44 161 275 2445

UK (MANCHESTER) participant 107˙521.00
12    ASPER BIOTECH AS

 Organization address address: VAKSALI 17A
city: TARTU
postcode: 50410

contact info
Titolo: Mr.
Nome: Alo
Cognome: Merilo
Email: send email
Telefono: +372 7441556
Fax: +372 7442343

EE (TARTU) participant 80˙550.00

Mappa


 Word cloud

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

human    innovations    diagnosis    throughput    diagnostics    paraplegia    clinical    techniques    first    for    steps    medical    genetic    diagnostic    enrichment    rapid    ataxia    molecular    wgs    genes    parallel    offers    diseases    tools    breast    majority    effectiveness    mutations    hts    ethical    genome    gene    made    smes    motor    designed    training    heterogeneous    techgene    demand    selected    model    cancer    capture    recently    opportunity    sequencing    care    capacity    analysed    tested    disorders    laboratories   

 Obiettivo del progetto (Objective)

'Since the sequencing of the human genome has been completed the demand for genetic analysis in the human health care system is drastically increasing, and the extension of molecular genetic diagnostics is urgently needed. However, the majority of genetic diseases is molecularly and clinically highly heterogeneous, and until recently the available techniques lacked the required capacity to analyze several genes in parallel. The recently introduced high-throughput whole genome sequencing (WGS) technology now offers the unique opportunity to extend molecular genetic analysis by introducing these techniques, and develop taylormade medical resequencing approaches for molecular genetic diagnosis of heterogeneous disorders. This project aims to deliver crucial innovations leading to these approaches, and to deliver a proof-of-principle for its implementation in selected model disorders. The model disorders have been selected with increasing genetic complexity, and represent the majority of non-multifactorial genetic disorders. The current momentum to perform these innovations by a European consortium of clinical genetic diagnostic laboratories and research laboratories and industrial stakeholders will lead to a front-running position of European laboratories and small and medium enterprises (SMEs) in this field. The consortium putting forward this proposal consists of leading scientists and established laboratories providing cutting edge knowledge with respect to quality management aspects, ethical and societal issues, and cost effectiveness issues. This is the only approach that will warrant the development of diagnostic tools designed to restrict genetic testing to relevant medical factors. For European SMEs this proposal offers the opportunity to identify niches in the steadily increasing molecular genetic market. A specially designed training programme will take care of rapid dissemination of the acquired knowledge and tools across Europe.'

Introduzione (Teaser)

An ambitious European project has made major headway into the use of genetic diagnosis for diseases that are affected by multiple genes. Techgene has used the benefit of rapid-throughput gene sequencing adapted for different diseases.

Descrizione progetto (Article)

Since the advent of genome sequencing, there has been increased demand for gene analysis to be included in therapy. Unfortunately, most genetic diseases are caused by the input of many genes and are highly heterogeneous.

The recently developed technology 'Massively Parallel Sequencing' (MPS) provides the capacity to screen for analysing several genes in parallel. Using this high-throughput whole genome sequencing (WGS) method, the EU-funded project Techgene aimed to tailor gene sequencing methods to fit specific genetic diseases.

For the initial part of this project the focus was on two steps. First, patient samples were analysed for mutations. From there, high-throughput sequencing (HTS) reagents and protocols could be developed for known and unknown mutations.

Techgene researchers refined HTS techniques for many complex genetic disorders. These include haemoglobinopathy, breast cancer, sensory disorders such as retinal dystrophies and hearing loss, paraplegia and ataxia, as well as many mental retardation syndromes.

For breast cancer, two different mutation scanning methods were tested and enrichment steps developed and assessed. Substantial progress was also made for neurological motor dysfunctions. Project partners also worked to develop a joint gene capture tool for genetic motor disorders for recessive ataxia and paraplegia incorporating over 100 genes which is to be extended to dystonia and hereditary Parkinson's. The Techgene team also tested several alternative strategies for gene capture and amplification including Raindance that eliminates enrichment bias.

Dissemination was achieved through the website at http://www.techgene.eu/project, scientific publications and at conferences. For training, four workshops were held and a training facility set up in Prague.

Always a consideration in genetic diagnostics, the project has analysed legal and ethical issues according to specific country requirements. The analysis is being prepared in collaboration with the public and professional policy committee of the European Society of Human Genetics.

Evaluation of cost-effectiveness and economic impact of the introduction of the new HTS into clinical practice was commenced, with breast cancer being selected for the first model. Work by the Techgene project promises to put European research at the forefront of this important diagnostic field.

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