Unlocking unknown mutations to understand causal relationships in cardiovascular science: paving the path to personalized cardiovascular care

Multiple disorders are characterised by dysregulated inflammation, many of which entail genetic background.Genome-wide sequencing has provided the means to define the molecular basis of examples that may be rare or even unique.Importantly, such genetically determined autoinflammatory disorders provide proof-of-principle of molecular pathways in humans and may point the way to treating more common inflammatory conditions.Recent research has shed light on a previously unrecognized autoinflammatory condition arising from a mutation in the interleukin -1 receptor 1 (IL-1R1) gene, termed "Loss of IL-1R1 Sensitivity to IL-1Ra" (LIRSA).This novel discovery, highlighted in the study by Yusha Wang et al. published in Immunity 1 , offers crucial insights into the pathophysiology of autoinflammatory conditions and unveils promising avenues for targeted therapy.