Progress in the diagnosis and treatment of rare diseases in the era of genomic medicine

Abstract

There are many different kinds of rare diseases, of which most are with serious, complicated, and non-specific symptoms, and great difficulties exist in both diagnosis and treatment of rare diseases. In the era of genomic medicine, with the extensive application of next-generation sequencing technology and in-depth research of gene therapy, the diagnosis and treatment of rare diseases has ushered in a new turn. The next-generation sequencing technology enables high-throughput detection, assists in clinically efficient phenotypic assessment and disease diagnosis and promotes research on the pathogenesis and treatment of rare diseases; gene therapy technology continues to improve, and drugs are successively acquired, which brings the hope for cure to patients with rare diseases. This article will provide a brief overview of the advances and challenges of the diagnosis and treatment of rare diseases in the era of genomic medicine. Key words: Rare disease; Genomic medicine; Next generation sequencing; Orphan drug; Gene therapy