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

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.

Field of science

  • /natural sciences/biological sciences/genetics and heredity/genome

Call for proposal

FP7-HEALTH-2007-B
See other projects for this call

Funding Scheme

CP-FP - Small or medium-scale focused research project

Coordinator

STICHTING KATHOLIEKE UNIVERSITEIT
Address
Geert Grooteplein Noord 9
6525 EZ Nijmegen
Netherlands
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 947 400
Administrative Contact
Wim Van Oijen (Mr.)

Participants (11)

KATHOLIEKE UNIVERSITEIT LEUVEN
Belgium
EU contribution
€ 283 320
Address
Oude Markt 13
3000 Leuven
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Maria Vereeken (Ms.)
UNIVERZITA KARLOVA
Czechia
EU contribution
€ 149 900
Address
Ovocny Trh 560/5
116 36 Praha 1
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Ivana Funkova (Ms.)
FUNDACIO CENTRE DE REGULACIO GENOMICA
Spain
EU contribution
€ 222 450
Address
Carrer Doctor Aiguader 88
08003 Barcelona
Activity type
Research Organisations
Administrative Contact
Elisenda Folch (Ms.)
UNIVERSITA DEGLI STUDI DI TRIESTE
Italy
EU contribution
€ 193 650
Address
Piazzale Europa 1
34127 Trieste
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Elisabetta Somma (Dr.)
EBERHARD KARLS UNIVERSITAET TUEBINGEN
Germany
EU contribution
€ 265 650
Address
Geschwister-scholl-platz
72074 Tuebingen
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Holm Graessner (Dr.)
ACADEMISCH ZIEKENHUIS LEIDEN
Netherlands
EU contribution
€ 291 150
Address
Albinusdreef 2
2333 ZA Leiden
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Olivier Swart (Mr.)
FONDAZIONE TELETHON
Italy
EU contribution
€ 154 800
Address
Via Varese 16/B
00185 Roma
Activity type
Research Organisations
Administrative Contact
Irene Mearelli (Ms.)
UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI
Italy
EU contribution
€ 175 650
Address
Viale Abramo Lincoln 5
81100 Caserta
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Emilia Uccello (Dr.)
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
EU contribution
€ 124 969
Address
Rue De Tolbiac 101
75654 Paris
Activity type
Research Organisations
Administrative Contact
Cedrine Pederiva (Ms.)
THE UNIVERSITY OF MANCHESTER
United Kingdom
EU contribution
€ 107 521
Address
Oxford Road
M13 9PL Manchester
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Kerry Chantrey (Ms.)
ASPER BIOTECH AS
Estonia
EU contribution
€ 80 550
Address
Vaksali 17A
50410 Tartu
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Alo Merilo (Mr.)