Rare genetic diseases collectively impact a significant portion of the world’s population. For many diseases there is limited information available, and clinicians can find difficulty in differentiating between clinically similar conditions. This leads to problems in genetic counseling and patient treatment. The biomedical market is affected because pharmaceutical and biotechnology industries do not see advantages in addressing rare disease treatments, or because the cost of the treatments is too high. By contrast, technological advances including DNA sequencing and analysis, together with computer-aided tools and online resources, are allowing a more thorough understanding of rare disorders. Here, we discuss how the collection of various types of information together with the use of new technologies is facilitating diagnosis and, consequently, treatment of rare diseases.

罕见的遗传疾病共同影响着世界人口的很大一部分。对于许多疾病而言，可用的信息有限，临床医生可能难以区分临床上相似的疾病。这导致遗传咨询和患者治疗方面的问题。生物医学市场受到影响是因为制药和生物技术行业在解决罕见病的治疗方法上没有优势，或者因为治疗费用太高。相比之下，包括DNA测序和分析在内的技术进步，以及计算机辅助工具和在线资源，使得人们可以更全面地了解罕见疾病。在这里，我们讨论了各种信息的收集以及新技术的使用如何促进诊断，因此，