Genome editing to define the function of risk loci and variants in rheumatic disease.

ABSTRACT: Discoveries in human genetic studies have revolutionized our understanding of complex rheumatic and autoimmune diseases, including the identification of hundreds of genetic loci and single nucleotide polymorphisms that potentially predispose individuals to disease. However, in most cases, the exact disease-causing variants and their mechanisms of action remain unresolved. Functional follow-up of these findings is most challenging for genomic variants that are in non-coding genomic regions, where the large majority of common disease-associated variants are located, and/or that probably affect disease progression via cell type-specific gene regulation. To deliver on the therapeutic promise of human genetic studies, defining the mechanisms of action of these alleles is essential. Genome editi

SUBMITTER: Baglaenko Y 

PROVIDER: S-EPMC10782829 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature