• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare.医学遗传学家在基因治疗时代不断演变的角色：亟待做好准备。
Genet Med. 2023 Apr;25(4):100022. doi: 10.1016/j.gim.2023.100022. Epub 2023 Jan 19.
2
Correspondence on "The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare" by Vockley et al.
Genet Med. 2023 Oct;25(10):100905. doi: 10.1016/j.gim.2023.100905. Epub 2023 May 25.
3
The 2019 medical genetics workforce: A focus on laboratory geneticists.2019 年医学遗传学劳动力：关注实验室遗传学家。
Genet Med. 2023 Jun;25(6):100834. doi: 10.1016/j.gim.2023.100834. Epub 2023 Mar 28.
4
Current conditions in medical genetics practice.当前医学遗传学实践中的情况。
Genet Med. 2019 Aug;21(8):1874-1877. doi: 10.1038/s41436-018-0417-6. Epub 2019 Jan 28.
5
Medical Geneticists' duty to warn at-risk relatives for genetic disease.医学遗传学家向遗传病高危亲属发出警示的职责。
Am J Med Genet A. 2003 Jul 30;120A(3):374-80. doi: 10.1002/ajmg.a.20227.
6
Physicians' knowledge of genetics and genetic tests.医生对遗传学和基因检测的了解。
Acad Med. 1993 Aug;68(8):625-32. doi: 10.1097/00001888-199308000-00013.
7
Changing opinions of Mexican geneticists on ethical issues.
Arch Med Res. 2006 Aug;37(6):794-803. doi: 10.1016/j.arcmed.2006.01.005.
8
The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing.先进基因组检测时代医学遗传学实践中耗时的要求。
Genet Med. 2016 Apr;18(4):372-7. doi: 10.1038/gim.2015.96. Epub 2015 Jul 16.
9
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).医学遗传学家在基因治疗临床试验中的贡献：美国医学遗传学与基因组学学会（ACMG）的一份需考虑要点声明
Genet Med. 2023 Jun;25(6):100831. doi: 10.1016/j.gim.2023.100831. Epub 2023 Apr 9.
10
The medical genetics workforce: an analysis of clinical geneticist subgroups.医学遗传学劳动力：临床遗传学家亚组分析。
Genet Med. 2006 Oct;8(10):603-14. doi: 10.1097/01.gim.0000242307.83900.77.

引用本文的文献

1
Improving access to gene therapies: a holistic view of current challenges and future policy solutions in the United States.改善基因治疗的可及性：美国当前挑战与未来政策解决方案的整体视角。
J Comp Eff Res. 2024 Dec;13(12):e240098. doi: 10.57264/cer-2024-0098. Epub 2024 Nov 19.
2
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder.反义寡核苷酸疗法治疗 KIF1A 相关神经疾病患者。
Nat Med. 2024 Oct;30(10):2782-2786. doi: 10.1038/s41591-024-03197-y. Epub 2024 Aug 9.
3
Genetic counselors' awareness and attitudes regarding gene therapies.遗传咨询师对基因治疗的认识和态度。
J Genet Couns. 2025 Apr;34(2):e1953. doi: 10.1002/jgc4.1953. Epub 2024 Jul 23.
4
Genetic knowledge and attitudes towards genetic testing among final-year medical students at a public university in Ecuador.厄瓜多尔一所公立大学最后一年医学生的遗传知识及对基因检测的态度
Front Med (Lausanne). 2024 Jun 19;11:1363552. doi: 10.3389/fmed.2024.1363552. eCollection 2024.
5
Genomic sequencing for newborn screening: current perspectives and challenges.新生儿筛查的基因组测序：当前观点与挑战
Croat Med J. 2024 Jun 13;65(3):261-267. doi: 10.3325/cmj.2024.65.261.
6
The future of commercial genetic testing.商业基因检测的未来。
Curr Opin Pediatr. 2023 Dec 1;35(6):615-619. doi: 10.1097/MOP.0000000000001260. Epub 2023 May 23.

本文引用的文献

1
Survey of Health Care Provider Understanding of Gene Therapy Research for Inherited Metabolic Disorders.遗传性代谢疾病基因治疗研究中医疗服务提供者的理解调查。
Clin Ther. 2022 Aug;44(8):1045-1056. doi: 10.1016/j.clinthera.2022.07.002. Epub 2022 Aug 1.
2
Delivery of AAV-based gene therapy through haemophilia centres-A need for re-evaluation of infrastructure and comprehensive care: A Joint publication of EAHAD and EHC.通过血友病中心进行基于 AAV 的基因治疗的输送-需要重新评估基础设施和综合护理：EAHAD 和 EHC 的联合出版物。
Haemophilia. 2021 Nov;27(6):967-973. doi: 10.1111/hae.14420. Epub 2021 Sep 22.
3
Durable cell and gene therapy potential patient and financial impact: US projections of product approvals, patients treated, and product revenues.持久细胞和基因治疗的潜在患者和财务影响：美国对产品批准、治疗患者和产品收入的预测。
Drug Discov Today. 2022 Jan;27(1):17-30. doi: 10.1016/j.drudis.2021.09.001. Epub 2021 Sep 17.
4
Hemophilia gene therapy knowledge and perceptions: Results of an international survey.血友病基因治疗的知识与认知：一项国际调查结果
Res Pract Thromb Haemost. 2020 Mar 19;4(4):644-651. doi: 10.1002/rth2.12326. eCollection 2020 May.
5
Gene Replacement Therapy: A Primer for the Health-system Pharmacist.基因替代疗法：医疗体系药师入门。
J Pharm Pract. 2020 Dec;33(6):846-855. doi: 10.1177/0897190019854962. Epub 2019 Jun 27.
6
How to discuss gene therapy for haemophilia? A patient and physician perspective.如何讨论血友病的基因治疗？患者和医生的观点。
Haemophilia. 2019 Jul;25(4):545-557. doi: 10.1111/hae.13769. Epub 2019 May 21.
7
Adeno-associated virus vector as a platform for gene therapy delivery.腺相关病毒载体作为基因治疗传递的平台。
Nat Rev Drug Discov. 2019 May;18(5):358-378. doi: 10.1038/s41573-019-0012-9.
8
From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.从科学发现到罕见病治疗——来自国家转化医学科学中心（罕见病研究办公室）的观点。
Orphanet J Rare Dis. 2018 Nov 6;13(1):196. doi: 10.1186/s13023-018-0936-x.
9
Occurrence of leukaemia following gene therapy of X-linked SCID.X连锁重症联合免疫缺陷病基因治疗后白血病的发生
Nat Rev Cancer. 2003 Jul;3(7):477-88. doi: 10.1038/nrc1122.
10
Virus treatment questioned after gene therapy death.基因治疗死亡事件后，病毒治疗受到质疑。
Nature. 1999 Oct 7;401(6753):517-8. doi: 10.1038/43977.

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare.

作者信息

Vockley Jerry, Brunetti-Pierri Nicola, Chung Wendy K, Clarke Angus J, Gold Nina, Green Robert C, Kagan Stephen, Moroz Tara, Schaaf Christian P, Schulz Martin, De Baere Elfride

机构信息

Department of Pediatrics, University of Pittsburgh School of Medicine and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.

Department of Translational Medicine, Federico II University, Naples, Italy; Department of Translational Medicine, Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.

出版信息

Genet Med. 2023 Apr;25(4):100022. doi: 10.1016/j.gim.2023.100022. Epub 2023 Jan 19.

DOI:10.1016/j.gim.2023.100022
PMID:36681872
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10643995/
Abstract
摘要