{"title":"基因治疗及其在遗传性疾病治疗中的作用。","authors":"Shireen Nishad, Dipali Dongare, Sayani Saha, Raskar Dhanashri Anil, Nidhi Srivastava, Abhishek Dey","doi":"10.1007/s00439-025-02757-7","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":" ","pages":"695-713"},"PeriodicalIF":3.8000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Current perspectives on gene therapy and its involvement in curing genetic disorders.\",\"authors\":\"Shireen Nishad, Dipali Dongare, Sayani Saha, Raskar Dhanashri Anil, Nidhi Srivastava, Abhishek Dey\",\"doi\":\"10.1007/s00439-025-02757-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":13175,\"journal\":{\"name\":\"Human Genetics\",\"volume\":\" \",\"pages\":\"695-713\"},\"PeriodicalIF\":3.8000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Human Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1007/s00439-025-02757-7\",\"RegionNum\":2,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/6/18 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s00439-025-02757-7","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/18 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Current perspectives on gene therapy and its involvement in curing genetic disorders.
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.
期刊介绍：
Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology.
Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted.
The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.
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