【佳学基因检测】神经发育障碍的基因转移疗法

品牌神经病基因检测688套餐解剖

与专家交流神经科疾病基因检测全面性的标准与实施方案《精神与神经疾病突变基因检测与个性化治疗方案的制定》《Dev Neurosci》在. 2021;43(3-4):230-240.发表了一篇题目为《神经发育障碍的基因转移疗法》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Can Ozlu, Rachel M Bailey, Sarah Sinnett, Kimberly D Goodspeed等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

神经疾病遗传阻断及精准治疗临床研究内容关键词：

饮食失调,遗传学,全基因组关联研究,审查

精神科心理科疾病用药指导基因检测临床应用结果

神经发育障碍 (NDD) 包括破坏正常大脑发育的广泛疾病。尽管一些 NDD 是由获得性损伤（即中毒性或传染性脑病）引起的或可能是隐源性的，但许多 NDD 是由单个基因或一组基因中破坏神经元发育或功能的变异引起的。在这篇综述中，我们将重点关注那些具有遗传病因的 NDD。分子病理学的确切机制、时间和进展很少为人所知。然而，发育异常通常表现为类似的模式，例如运动功能、社交技能、语言或认知能力的延迟或退化。损伤的严重程度可以有很大的不同。目前，只有对症治疗可用于管理 NDD 中常见的癫痫发作和行为问题。近年来，使用腺相关病毒 (AAV) 进行基因治疗的研究迅速扩大。使用 AAV 作为载体来替代体内无功能或功能失调的基因是一个相对简单的模型，它为 NDD 治疗的未来创造了前所未有的机会。该领域的进展至关重要，因为 NDD 会给受影响的个人和家庭带来巨大的终生疾病负担。在本文中，我们回顾了 AAV 基因疗法的独特优势和挑战。然后，我们研究了基因治疗对 3 种更常见的 NDD（Rett 综合征、脆性 X 综合征和 Angelman 综合征）以及 2 种不太常见的 NDD（SLC13A5 缺乏症和 SLC6A1 相关疾病）的潜在应用。我们将回顾每种疾病的可用自然史和临床前研究的现状，包括讨论 AAV 基因疗法在每种疾病中的应用。脆性 X 综合征；基因治疗;神经发育障碍；雷特综合征； SLC13A5; SLC6A1。

神经及精神疾病及其并发征、合并征国际数据库描述：

Neurodevelopmental disorders (NDDs) include a broad spectrum of disorders that disrupt normal brain development. Though some NDDs are caused by acquired insults (i.e., toxic or infectious encephalopathy) or may be cryptogenic, many NDDs are caused by variants in a single gene or groups of genes that disrupt neuronal development or function. In this review, we will focus on those NDDs with a genetic etiology. The exact mechanism, timing, and progression of the molecular pathology are seldom well known; however, the abnormalities in development typically manifest in similar patterns such as delays or regression in motor function, social skills, and language or cognitive abilities. Severity of impairment can vary widely. At present, only symptomatic treatments are available to manage seizures and behavioral problems commonly seen in NDDs. In recent years, there has been a rapid expansion of research into gene therapy using adeno-associated viruses (AAVs). Using AAVs as vectors to replace the non- or dysfunctional gene in vivo is a relatively simple model which has created an unprecedented opportunity for the future of NDD treatment. Advances in this field are of paramount importance as NDDs lead to a massive lifelong burden of disease on the affected individuals and families. In this article, we review the unique advantages and challenges of AAV gene therapies. We then look at potential applications of gene therapy for 3 of the more common NDDs (Rett syndrome, fragile X syndrome, and Angelman syndrome), as well as 2 less common NDDs (SLC13A5 deficiency disorder and SLC6A1-related disorder). We will review the available natural history of each disease and current state of preclinical studies including a discussion on the application of AAV gene therapies for each disease.Keywords: Angelman syndrome; Fragile X syndrome; Gene therapy; Neurodevelopmental disorder; Rett syndrome; SLC13A5; SLC6A1.