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European Genetic Disease Diagnostics

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.

Field of science

  • /natural sciences/biological sciences/genetics and heredity/mutation
  • /natural sciences/biological sciences/genetics and heredity/nucleotide
  • /natural sciences/biological sciences/genetics and heredity/genome
  • /natural sciences/biological sciences/biochemistry/biomolecules/proteins/proteomics

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

KAROLINSKA INSTITUTET
Address
Nobels Vag 5
17177 Stockholm
Sweden
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 1 054 727
Administrative Contact
Kim Von Schoultz (Mr.)

Participants (4)

University College London
United Kingdom
EU contribution
€ 450 100
Address
Gower Street
WC1E 6BT London
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Kent Lee (Mr.)
Eurofins Genomics Europe Sequencing GmbH
Germany
EU contribution
€ 749 000
Address
Jakob Stadler Platz 7
78467 Konstanz
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Peter Pohl (Mr.)
INSTYTUT POMNIK CENTRUM ZDROWIA DZIECKA
Poland
EU contribution
€ 210 000
Address
Aleja Dzieci Polskich 20
04730 Warszawa
Activity type
Research Organisations
Administrative Contact
Ewa Bernatowska (Prof.)
UPPSALA UNIVERSITET
Sweden
EU contribution
€ 449 980
Address
Von Kraemers Alle 4
751 05 Uppsala
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Pirkko Boox (Ms.)