Primary immunodeficiencies (PIDs) belong to the group of rare diseases. Due to their rarity, they can only be studied through transnational studies. European research in the field of primary immunodeficiencies has a good track record and this application is built upon existing research infrastructures in order to maximise the scientific outcome and be cost-beneficial. The application focuses on four key objectives: 1. To increase our understanding of the aetiology of PIDs, and identify novel mutations and new disease genes. 2. To carry out epidemiological studies in order to determine the prevalence of PIDs in Europe. 3. To establish and evaluate harmonised guidelines for the diagnosis and treatment of PIDs. 4. To improve the awareness of PIDs among the European population. In order to achieve these aims we will develop a new, secure, Internet-based patient registry, which comprises several novel features and standards. This database will form a platform for studies of demographics, the harmonisation and development of new diagnostic and treatment strategies, and the identification of novel disease genes. This will also improve our knowledge regarding complex mechanisms involved in the immune responses.We believe that the outcome of this proposal will influence the field of primary immunodeficiencies in many respects. The results will benefit the European population, especially the estimated 60,000 patients suffering from these diseases. Hopefully the implementation of adequate treatment strategies throughout Europe will reduce the costs to the society. Moreover, we hope that many of the strategies and instruments that will be developed can also be used for the benefit of patients having other rare diseases.
Fields of science
Call for proposal
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Funding SchemeSTREP - Specific Targeted Research Project
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