摘要罕见病病种多样,大部分症状严重、复杂且具有非特异性,难于诊断和治疗.在基因组医学时代,随着下一代测序技术的广泛应用和基因治疗的深入研究,罕见病的诊治迎来了新转机.下一代测序技术通过高通量检测,辅助临床高效进行表型评估和疾病诊断,推动罕见病发病机制和治疗手段的研究;基因治疗技术不断完善,新药不断获批上市,为罕见病患者带来治愈的希望.本文将对罕见病诊断和治疗在基因组医学时代的进步和挑战进行简要综述.

abstractsThere 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.