Primary immunodeficiency disorders involving innate immunity are characterized by recurrent and life-threatening infections. The molecular etiology of these disorders is elusive in many cases. The aim of the awarded project “integrative genetics of congenital deficiencies” is to identify novel genetic defects in innate immunity and decipher their molecular pathophysiology. To this end, we will use a discovery engine consisting of an exclusive combination of genomic technologies, including so-called single nucleotide polymorphism (SNP) chip arrays and high throughput DNA sequencing technology (“next generation sequencing”), together with functional proteomic technologies. The engine will be complemented by biochemical, immunological and imaging technologies to systematically assess the consequences of the genetic deficiency and map the respective protein products onto molecular pathways. The proposed investigations are expected to contribute significantly to our understanding of the molecular processes that structure our innate immune system. This will not only enable a more comprehensive molecular classification system of primary immunodeficiencies, but also improve patient care by aiding molecular diagnosis and prognosis in individual patients suffering from these disorders. Our investigations will serve as the basis for future development of targeted therapies such as gene therapy or pharmacological interventions targeting affected signaling pathways.
CeMM Principal Investigator Kaan Boztug awarded START Prize
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