Molecular techniques have become more efficient, increasingly precise and much cheaper, resulting in an unprecedented discovery rate of inherited disease genes. For many diseases many genes have been found to carry mutations in diseases with heterogenous clinical presentation. Almost 150 genes have been found to cause primary immuno deficiency (PID) disease. Current mutation analysis is very complex with many European labs being involved. Individual labs carrying out mutation analysis only cover a small percent of all disease genes. Obtaining a correct diagnosis is difficult and time consuming. We will adapt Next Gen sequencing technologies to PID genes using an innovative multiplexing technology. We will develop a reverse phase protein array for protomics approaches in the diagnosis of PID patients during infancy. During the project we will disseminate information and transfer the developed technologies to other disease areas. The genetic causes of immunological diseases will be investigated using the Next Gen sequencing technologies. SNPs in genes which cause a disease will be investigated. And a database of the genetic variance of disease genes will be generated. These findings will improve the diagnosis and treatment of these diseases and improve the patient prognosis.
We will develop innovative, high-throughput sequencing and analysis technologies for diagnosing genetic disease in individual patients. We will further develop an analysis pipeline and database for the identification of disease-related single nucleotide polymorphisms (SNPs). This will provide improved patient care through early diagnosis, patient classification and improved risk profiling.
Karolinska Institutet, Karolinska/ Schweden (Projekt-Koordinator): Edvard Smith , Lennart Hammarström
Uppsala University, Uppsala/ Sweden: Mats Nilsson
University College London, London/ United Kingdom: Bodo Grimbacher
Children’s Memorial Health Institute, Warsaw/ Poland: Ewa Bernatowska
GATC Biotech AG, Konstanz/ Germany: Christopher Bauser
This collaborative project is granted by the European Commission within 7th Framework Programme, project number: Health-F5-2008-223293, project duration: 3 years starting 2009.01.01