Nishad Shireen, Dongare Dipali, Saha Sayani, Anil Raskar Dhanashri, Srivastava Nidhi, Dey Abhishek
Department of Biotechnology, National Institute of Pharmaceutical Education and Research, Bijnor-Sisendi Road, Sarojini Nagar, Near CRPF Base Camp, Lucknow, UP, 226002, India.
Hum Genet. 2025 Jun 18. doi: 10.1007/s00439-025-02757-7.
Genomics is revolutionizing medical science, offering transformative potential for the future of medicine. Advances in whole-genome sequencing have deepened our understanding of genome structure and function, paving the way for genomic medicine. The Human Genome Project has been instrumental in identifying genetic variations linked to increased disease risks, such as cancer, enabling genome-based diagnostics and personalized therapeutic strategies. Human genomics research focuses on developing precise therapies to enhance public health and address rare genetic disorders, including Spinal muscular atrophy, Duchenne muscular dystrophy, Parkinson's disease, and Huntington's disease. Cutting-edge gene-editing tools like CRISPR allow precise and targeted modifications with minimal side effects, improving treatment efficacy. By examining the interplay of genetic factors in health and disease, genomics lays the foundation for personalized medicine. This review highlights the impact of genomics on public health and its potential to reshape healthcare through innovative treatment strategies.
基因组学正在彻底改变医学科学，为医学的未来提供变革潜力。全基因组测序的进展加深了我们对基因组结构和功能的理解，为基因组医学铺平了道路。人类基因组计划在识别与疾病风险增加相关的基因变异（如癌症）方面发挥了重要作用，从而实现基于基因组的诊断和个性化治疗策略。人类基因组学研究专注于开发精确疗法，以改善公众健康并解决罕见遗传疾病，包括脊髓性肌萎缩症、杜氏肌营养不良症、帕金森病和亨廷顿舞蹈症。像CRISPR这样的前沿基因编辑工具能够进行精确且靶向的修饰，副作用极小，从而提高治疗效果。通过研究健康与疾病中遗传因素的相互作用，基因组学为个性化医学奠定了基础。本综述强调了基因组学对公众健康的影响及其通过创新治疗策略重塑医疗保健的潜力。
