Clinical neurogenetics

Research in the group focuses on conditions encountered in paediatric neurogenetic practice, with the aim of improving the diagnosis, management and, ultimately, treatment of these disorders. Particular expertise has been developed in the study of Aicardi-Goutières syndrome (AGS), a rare Mendelian mimic of congenital infection showing overlap with systemic lupus erythematosus at a clinical and pathological level.

Such research has proved of considerable scientific interest in defining novel pathways linking nucleic acid metabolism with the innate immune system. Moreover, taking intracranial calcification, a major radiological feature of AGS, as a diagnostic starting point has allowed us to usefully delineate a number of other remarkable clinical entities, the genetic basis of which we are currently also investigating.

Principal investigator

Yanick Crow
Professor of Medical Genetics
Email: yanick