Yanick Crow

Neurogenetics and neuroinflammation

Publish at 18.11.2019


Yanick Crow


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Yanick Crow is a clinician scientist, with the work of the Crow group driven by an interest in human diseases and a determination to improve their diagnosis and treatment.

Aicardi-Goutières syndrome and the type I interferonopathies

Our work in this area started with the Mendelian inflammatory disorder Aicardi-Goutières syndrome (AGS). Clinical and genetic studies of this severe disease helped to define the phenotypic spectrum associated with mutations in the AGS-related genes, delineate a cell-intrinsic mechanism for the initiation of autoinflammation / autoimmunity by stimulatory nucleic acids, and further emphasise the importance of type I interferon processing in the pathogenesis of certain non-Mendelian disorders, particularly systemic lupus erythematosus. Since then, a combination of clinical, genetic and immunological perspectives has led us to suggest that monogenic disorders associated with an upregulation of type I interferons represent a novel set of inborn errors of immunity due to abnormal sensing, inappropriate stimulation, or defective negative regulation of the type I interferon system – the so-called type I interferonopathies. There is a clear unmet clinical need for treatments in this area, and the insights so far obtained suggest the possibility of therapies to block nucleic acid driven inflammation (for examples, see: Frémond et al. J Allergy Clin Immunol 2016;138:1752–1755; Kothur et al. Neurology 2018;90:289-291; Briand et al. Ann Rheum Dis 2019;78:431-433; Rice et al. N Engl J Med 2018;379:2275-2277), and have important implications for fundamental research into mechanisms of self / non-self discrimination and viral immunity.

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