加快 STXBP1 和 SYNGAP1 疾病的治疗开发和临床试验准备。

IF 3 4区医学 Q1 PEDIATRICS

Current Problems in Pediatric and Adolescent Health Care Pub Date : 2024-08-01 DOI:10.1016/j.cppeds.2024.101576

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引用次数: 0

摘要

针对遗传性神经发育障碍（NDDs）的基因靶向疗法正在成为现实。癫痫和神经发育障碍中心（ENDD）目前正致力于开发针对STXBP1和SYNGAP1障碍的疗法。在此，我们回顾了这些疾病的已知临床特征，强调了 STXBP1 和 SYNGAP1 的生物学作用，并讨论了我们目前对致病机制和治疗开发的理解。最后，我们以科学家和 NDDs 患儿家长的双重身份提出了自己的观点，并对当前临床和基础科学工作所面临的挑战发表了看法。

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Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders

Gene-targeted therapies for genetic neurodevelopmental disorders (NDDs) are becoming a reality. The Center for Epilepsy and Neurodevelopmental Disorders (ENDD) is currently focused on the development of therapeutics for STXBP1 and SYNGAP1 disorders. Here we review the known clinical features of these disorders, highlight the biological role of STXBP1 and SYNGAP1, and discuss our current understanding of pathogenic mechanisms and therapeutic development. Finally, we provide our perspective as scientists and parents of children with NDDs, and comment on the current challenges for both clinical and basic science endeavors.

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来源期刊

Current Problems in Pediatric and Adolescent Health Care PEDIATRICS-

CiteScore

4.60

自引率

0.00%

发文量

审稿时长

5 days

期刊介绍： Recognized for its probing, comprehensive, and evidence-based reviews, Current Problems in Pediatric and Adolescent Health Care devotes each issue to a timely and practical topic in pediatric medicine, presented by leading authorities in the field. The journal offers readers easily accessible information that enhances professional experience and is pertinent to daily pediatric practice. Each issue''s review article is accompanied by an additional special feature designed to highlight a particular aspect of the topic presented.