Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Gene Therapy00:59

Gene Therapy

27.3K
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
27.3K
Pleiotropy01:33

Pleiotropy

43.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.2K
Genetic Lingo01:11

Genetic Lingo

113.8K
Overview
113.8K
Gene-Environment Interactions01:20

Gene-Environment Interactions

1.1K
Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
1.1K
Unrenewable Cells00:50

Unrenewable Cells

2.9K
In humans, the photoreceptor cells of the eye and sensory hair cells of the ear lack stem cells. These cells are thus unrenewable and cannot be replaced when they are damaged or destroyed.
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of...
2.9K
In-vitro Mutagenesis01:16

In-vitro Mutagenesis

16.0K
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
16.0K

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

American journal of human genetics·2026
Same author

Rare protein-coding variation and the genetic architecture of height in >1.4 million individuals.

medRxiv : the preprint server for health sciences·2026
Same author

Reply to: Distinguishing Meniere's Disease From Vestibular Migraine.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·2026
Same author

Giant skull base collision tumors in NF2-related schwannomatosis: longitudinal outcomes of planned selective resection.

Journal of neuro-oncology·2026
Same author

Adherence to International Guidelines in Pediatric Tonsillectomy: A National Survey among Brazilian Otolaryngologists.

International archives of otorhinolaryngology·2026
Same author

Type-2-Inflammatory-Diseases Share Comorbidities, Molecular Signatures, IL4/IL13 Genetics, and Response to IL4/IL13 Blockade.

Allergy·2026

相关实验视频

Updated: Jan 15, 2026

Posterior Semicircular Canal Approach for Inner Ear Gene Delivery in Neonatal Mouse
03:52

Posterior Semicircular Canal Approach for Inner Ear Gene Delivery in Neonatal Mouse

Published on: March 2, 2018

10.7K

DB-OTO基因疗法治疗遗传性聋症

Vassili Valayannopoulos1, Manohar Bance2, Daniela S Carvalho3

  • 1Regeneron Pharmaceuticals, Tarrytown, NY.

The New England journal of medicine
|October 14, 2025
PubMed
概括

基因疗法DB-OTO改善了与奥托弗林 (OTOF) 相关的儿童耳聋的听力. 这种治疗使许多人能够自然地听到声音,有些人达到正常的听觉敏感度.

更多相关视频

Surgical Method for Virally Mediated Gene Delivery to the Mouse Inner Ear through the Round Window Membrane
07:32

Surgical Method for Virally Mediated Gene Delivery to the Mouse Inner Ear through the Round Window Membrane

Published on: March 16, 2015

17.1K
Canalostomy As a Surgical Approach to Local Drug Delivery into the Inner Ears of Adult and Neonatal Mice
09:34

Canalostomy As a Surgical Approach to Local Drug Delivery into the Inner Ears of Adult and Neonatal Mice

Published on: May 25, 2018

11.6K

相关实验视频

Last Updated: Jan 15, 2026

Posterior Semicircular Canal Approach for Inner Ear Gene Delivery in Neonatal Mouse
03:52

Posterior Semicircular Canal Approach for Inner Ear Gene Delivery in Neonatal Mouse

Published on: March 2, 2018

10.7K
Surgical Method for Virally Mediated Gene Delivery to the Mouse Inner Ear through the Round Window Membrane
07:32

Surgical Method for Virally Mediated Gene Delivery to the Mouse Inner Ear through the Round Window Membrane

Published on: March 16, 2015

17.1K
Canalostomy As a Surgical Approach to Local Drug Delivery into the Inner Ears of Adult and Neonatal Mice
09:34

Canalostomy As a Surgical Approach to Local Drug Delivery into the Inner Ears of Adult and Neonatal Mice

Published on: May 25, 2018

11.6K

科学领域:

  • 耳鼻喉科 耳鼻喉科 耳鼻喉科
  • 遗传学 是一个遗传学.
  • 分子生物学分子生物学

背景情况:

  • 遗传性奥托弗林 (OTOF) 缺陷可能导致先天性聋,影响听觉毛细胞中的突触传播.
  • 目前对OTOF相关的聋的治疗主要涉及耳植入物,可用的医疗疗法有限.
  • DB-OTO是一种研究中的基因疗法,利用腺相关病毒1通过毛细胞特异性促进体传递人类的OTOFcDNA.

研究的目的:

  • 评估DB-OTO基因治疗在患有OTOF相关先天性聋的儿童中的安全性和有效性.
  • 评估DB-OTO恢复自然声学听力的潜力,并减少对耳植入器的需求.

主要方法:

  • 进行了一项开放的,单组的,首次对人进行的研究,涉及12名患有OTOF变异和严重聋 (>90dB HL) 的儿童.
  • 参与者在一只或两只耳朵中接受了DB-OTO (7.2×10^12载体基因组/耳朵) 的内输液.
  • 主要疗效是通过行为纯色音声测量 (PTA) 测量,在24周达到≤70dB HL;一个关键的次要终点是24周的听觉脑干响应 (ABR) ≤90dB nHL.

主要成果:

  • 12名参与者中有9人 (75%) 在24周内实现了PTA ≤70dB HL的主要疗效终点,ABR ≤90dB nHL的次要终点.
  • 六名参与者在没有辅助设备的情况下获得了听轻语的能力,三名获得了平均正常听觉灵敏度.
  • 报告共有67个不良事件,没有一个需要停止研究.

结论:

  • DB-OTO基因疗法在改善患有OTOF相关耳聋的儿童的听力方面表现出显著的疗效.
  • 治疗使得自然的声学听力和正常化的听力敏感性在大量的治疗患者.
  • DB-OTO代表了一种有前途的治疗方法,用于由奥托费林缺乏引起的先天性聋.