CORDIS Project
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This project aims to identify new genetic subtypes of diseases associated with type I interferon dysregulation, such as Aicardi-Goutières syndrome and systemic lupus erythematosus. It combines advanced sequencing and immunological assays to enhance understanding and treatment of these conditions.
Although the concept of grouping Mendelian disorders associated with an up-regulation of type I interferon (IFN) has not been previously recognised in the medical literature, my past and current work argues that this concept has scientific validity and clinical utility.
I believe that such conditions, which include Aicardi-Goutières syndrome (AGS), spondyloenchondrodysplasia, and some cases of systemic lupus erythematosus (SLE), can usefully be considered to represent a novel set of inborn error…
THE UNIVERSITY OF EDINBURGH
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United Kingdom, Manchester
Type: University / higher education
Activity type: Higher or Secondary Education Establishments
SME: No
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