精准医疗在视网膜色素变性诊疗中的应用研究现状

Application of precision medicine in diagnosis and treatment of retinitis pigmentosa

视网膜色素变性(RP)是以视网膜色素上皮细胞变性为特征的遗传性视网膜疾病。精准医疗是应用现代遗传技术,将生活环境、患者的临床数据以及分子成像技术和生物信息技术相结合,以实现准确诊断和治疗,并建立个性化疾病预防和治疗方案的新型医疗模式。目前RP的精准诊断主要是基于第二代基因测序和胚胎植入前遗传学,而精准治疗主要体现在基因治疗、干细胞移植、基因-干细胞疗法。尽管目前关于RP精准医疗的研究取得了令人瞩目的成果,但是在运用过程中仍存在诸多问题需要我们密切关注。如,目前的基因疗法无法彻底治疗显性遗传或晚期遗传性疾病,基因编辑技术的安全性问题仍未得到解决,干细胞移植后的细胞与宿主不能有效整合以及基因测序技术尚未完全普及、大数据信息平台不完善等。相信随着基因测序技术和再生医学各项研究的深入和临床试验的成功开展,对于RP的精准医疗将逐渐被完善,未来有望挽救广大RP患者的视力。

Retinitis pigmentosa(RP)is an inherited retinal disease characterized by degeneration of retinal pigment epithelial cells.Precision medicine is a new medical model that applies modern genetic technology,combining living environment,clinical data of patients,molecular imaging technology and bio-information technology to achieve accurate diagnosis and treatment,and establish personalized disease prevention and treatment model.At present,precise diagnosis of RP is mainly based on next-generation sequencing technology and preimplantation genetic diagnosis,while precise therapy is mainly reflected in gene therapy,stem cell transplantation and gene-stem cell therapy.Although the current research on precision medicine for RP has achieved remarkable results,there are still many problems in the application process that is needed close attention.For instance,the current gene therapy cannot completely treat dominant or advanced genetic diseases,the safety of gene editing technology has not been solved,the cells after stem cell transplantation cannot be effectively integrated with the host,gene sequencing has not been fully popularized,and the big data information platform is imperfect.It is believed that with the in-depth research of gene sequencing technology,regenerative medicine and the successful development of clinical trials,the precision medicine for RP will be gradually improved and is expected to be applied to improve the vision of patients with RP in the future.