Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.

IF 3.6 2区医学 Q1 CLINICAL NEUROLOGY

Journal of Neurodevelopmental Disorders Pub Date : 2026-03-07 DOI:10.1186/s11689-026-09681-5

Matthew C Judson, Luis Pereira de Almeida, Rebecca D Burdine, Stormy J Chamberlain, Benjamin E Deverman, Ben Distel, Michael D Ehlers, Elizabeth Jalazo, Steven A Kushner, Mark Nespeca, Stephan J Sanders, Martin Scheffner, Jason J Yi, Mark J Zylka, Ype Elgersma, Benjamin D Philpot

引用次数: 0

Abstract

Recent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise restored? The results of ongoing clinical trials for Angelman syndrome will soon yield answers to this pressing question, yet the trials face significant obstacles. Here we identify insights needed to aid the quest for a disease-modifying Angelman syndrome therapy, which could serve as a roadmap for the expeditious development of genetic therapies for other single-gene neurodevelopmental disorders.

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向着治愈天使综合症的终点线迈进。

基因治疗的最新进展预示着对单基因神经发育障碍的有效治疗迫在眉睫。但是，在被破坏的基因被替换或以其他方式修复后，偏离轨道的神经发育过程能被修复吗？正在进行的Angelman综合征临床试验的结果将很快给出这个紧迫问题的答案，但这些试验面临着重大障碍。在这里，我们确定了帮助寻求改善疾病的Angelman综合征治疗所需的见解，这可以作为其他单基因神经发育障碍基因治疗快速发展的路线图。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Neurodevelopmental Disorders 医学-临床神经学

CiteScore

7.60

自引率

4.10%

发文量

审稿时长

>12 weeks

期刊介绍： Journal of Neurodevelopmental Disorders is an open access journal that integrates current, cutting-edge research across a number of disciplines, including neurobiology, genetics, cognitive neuroscience, psychiatry and psychology. The journal’s primary focus is on the pathogenesis of neurodevelopmental disorders including autism, fragile X syndrome, tuberous sclerosis, Turner Syndrome, 22q Deletion Syndrome, Prader-Willi and Angelman Syndrome, Williams syndrome, lysosomal storage diseases, dyslexia, specific language impairment and fetal alcohol syndrome. With the discovery of specific genes underlying neurodevelopmental syndromes, the emergence of powerful tools for studying neural circuitry, and the development of new approaches for exploring molecular mechanisms, interdisciplinary research on the pathogenesis of neurodevelopmental disorders is now increasingly common. Journal of Neurodevelopmental Disorders provides a unique venue for researchers interested in comparing and contrasting mechanisms and characteristics related to the pathogenesis of the full range of neurodevelopmental disorders, sharpening our understanding of the etiology and relevant phenotypes of each condition.