Genomic Sciences and Biotechnology Program, Catholic University of Brasília, Distrito Federal, Brazil.
University of Campinas (UNICAMP), Sao Paulo, Brazil.
Drug Discov Today. 2018 Jan;23(1):187-195. doi: 10.1016/j.drudis.2017.11.002. Epub 2017 Nov 10.
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.
罕见遗传病共同影响着世界上很大一部分人群。对于许多疾病，可用的信息有限，而且临床医生在区分临床相似病症时可能会遇到困难。这导致遗传咨询和患者治疗方面出现问题。生物医药市场也受到影响，因为制药和生物技术行业认为治疗罕见疾病没有优势，或者因为治疗费用过高。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，使人们能够更深入地了解罕见疾病。在这里，我们讨论了如何将各种类型的信息收集起来，并结合新技术的使用，从而促进罕见疾病的诊断，并最终促进其治疗。
