我们准备好为罕见疾病提供基因靶向治疗了吗?

IF 2.8 3区医学 Q2 GENETICS & HEREDITY American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-01-24 DOI:10.1002/ajmg.c.32029

Timothy W. Yu, Stephen F. Kingsmore, Robert C. Green, Tippi MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B. Gold, Annie Kennedy, Priya S. Kishnani, Matthew Might, Phillip J. Brooks, Jill A. Morris, Melissa A. Parisi, Tiina K. Urv

{"title":"我们准备好为罕见疾病提供基因靶向治疗了吗?","authors":"Timothy W. Yu, Stephen F. Kingsmore, Robert C. Green, Tippi MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B. Gold, Annie Kennedy, Priya S. Kishnani, Matthew Might, Phillip J. Brooks, Jill A. Morris, Melissa A. Parisi, Tiina K. Urv","doi":"10.1002/ajmg.c.32029","DOIUrl":null,"url":null,"abstract":"<p>The cost and time needed to conduct whole-genome sequencing (WGS) have decreased significantly in the last 20 years. At the same time, the number of conditions with a known molecular basis has steadily increased, as has the number of investigational new drug applications for novel gene-based therapeutics. The prospect of precision gene-targeted therapy for all seems in reach… or is it? Here we consider practical and strategic considerations that need to be addressed to establish a foundation for the early, effective, and equitable delivery of these treatments.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8000,"publicationDate":"2023-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32029","citationCount":"4","resultStr":"{\"title\":\"Are we prepared to deliver gene-targeted therapies for rare diseases?\",\"authors\":\"Timothy W. Yu, Stephen F. Kingsmore, Robert C. Green, Tippi MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B. Gold, Annie Kennedy, Priya S. Kishnani, Matthew Might, Phillip J. Brooks, Jill A. Morris, Melissa A. Parisi, Tiina K. Urv\",\"doi\":\"10.1002/ajmg.c.32029\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>The cost and time needed to conduct whole-genome sequencing (WGS) have decreased significantly in the last 20 years. At the same time, the number of conditions with a known molecular basis has steadily increased, as has the number of investigational new drug applications for novel gene-based therapeutics. The prospect of precision gene-targeted therapy for all seems in reach… or is it? Here we consider practical and strategic considerations that need to be addressed to establish a foundation for the early, effective, and equitable delivery of these treatments.</p>\",\"PeriodicalId\":7445,\"journal\":{\"name\":\"American Journal of Medical Genetics Part C: Seminars in Medical Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2023-01-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32029\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Medical Genetics Part C: Seminars in Medical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.32029\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.32029","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 4

摘要

在过去的20年中，进行全基因组测序(WGS)所需的成本和时间显著降低。与此同时，已知分子基础的疾病数量稳步增加，新型基因疗法的新药研究应用数量也在稳步增加。针对所有人的精确基因靶向治疗的前景似乎触手可及……或者是这样吗?在这里，我们考虑了需要解决的实际和战略考虑，以便为早期、有效和公平地提供这些治疗奠定基础。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

Are we prepared to deliver gene-targeted therapies for rare diseases?

The cost and time needed to conduct whole-genome sequencing (WGS) have decreased significantly in the last 20 years. At the same time, the number of conditions with a known molecular basis has steadily increased, as has the number of investigational new drug applications for novel gene-based therapeutics. The prospect of precision gene-targeted therapy for all seems in reach… or is it? Here we consider practical and strategic considerations that need to be addressed to establish a foundation for the early, effective, and equitable delivery of these treatments.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

American Journal of Medical Genetics Part C: Seminars in Medical Genetics 医学-遗传学

CiteScore

7.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.