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• W4319335940 abstract "The human genome project led to the advancement of genetic technologies and genomic medicine for a variety of human diseases, including monogenic autoimmune and autoinflammatory diseases. As a result, the genome of an individual can now be rapidly sequenced at a low cost, and this technology is beginning to change the practice of rheumatology. In this Perspective, we describe how new sequencing technologies combined with careful clinical phenotyping have led to the discovery of rare rheumatic diseases and their corresponding disease-causing mutations. Additionally, we explore ways in which single-gene mutations, including somatic mutations, are creating opportunities to develop personalized medicines. To illustrate this idea, we focus on diseases affecting the TREX1–cGAS–STING pathway, which is associated with monogenic autoinflammatory diseases and vasculopathies. For many of the affected patients and families, there is an urgent, unmet need for the development of personalized therapies. New innovations related to small molecular inhibitors and gene therapies have the potential to benefit these families, and might help drive further innovations that could prove useful for patients with more common forms of autoimmunity and autoinflammation. Next-generation sequencing has led to the discovery of multiple rare autoinflammatory diseases, together with their corresponding disease-causing mutations, creating opportunities to develop personalized medicine and providing useful insight into more common forms of autoimmunity and autoinflammation." @default.
• W4319335940 created "2023-02-08" @default.
• W4319335940 creator A5002593635 @default.
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• W4319335940 date "2023-02-07" @default.
• W4319335940 modified "2023-10-02" @default.
• W4319335940 title "A path towards personalized medicine for autoinflammatory and related diseases" @default.
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• W4319335940 doi "https://doi.org/10.1038/s41584-022-00904-2" @default.
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