【佳學(xué)基因檢測】神經(jīng)發(fā)育障礙的基因轉(zhuǎn)移療法

品牌神經(jīng)病基因檢測688套餐解剖

與專家交流神經(jīng)科疾病基因檢測全面性的標(biāo)準(zhǔn)與實(shí)施方案《精神與神經(jīng)疾病突變基因檢測與個(gè)性化治療方案的制定》《Dev Neurosci》在.?2021;43(3-4):230-240.發(fā)表了一篇題目為《神經(jīng)發(fā)育障礙的基因轉(zhuǎn)移療法》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Can Ozlu, Rachel M Bailey, Sarah Sinnett, Kimberly D Goodspeed等完成。促進(jìn)了腫瘤的正確治療與個(gè)性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測與分析的重要性。

神經(jīng)疾病遺傳阻斷及正確治療臨床研究內(nèi)容關(guān)鍵詞：

飲食失調(diào),遺傳學(xué),全基因組關(guān)聯(lián)研究,審查

精神科心理科疾病用藥指導(dǎo)基因檢測臨床應(yīng)用結(jié)果

神經(jīng)發(fā)育障礙 (NDD) 包括破壞正常大腦發(fā)育的廣泛疾病。盡管一些 NDD 是由獲得性損傷（即中毒性或傳染性腦病）引起的或可能是隱源性的，但許多 NDD 是由單個(gè)基因或一組基因中破壞神經(jīng)元發(fā)育或功能的變異引起的。在這篇綜述中，我們將重點(diǎn)關(guān)注那些具有遺傳病因的 NDD。分子病理學(xué)的確切機(jī)制、時(shí)間和進(jìn)展很少為人所知。然而，發(fā)育異常通常表現(xiàn)為類似的模式，例如運(yùn)動(dòng)功能、社交技能、語言或認(rèn)知能力的延遲或退化。損傷的嚴(yán)重程度可以有很大的不同。目前，只有對(duì)癥治療可用于管理 NDD 中常見的癲癇發(fā)作和行為問題。近年來，使用腺相關(guān)病毒 (AAV) 進(jìn)行基因治療的研究迅速擴(kuò)大。使用 AAV 作為載體來替代體內(nèi)無功能或功能失調(diào)的基因是一個(gè)相對(duì)簡單的模型，它為 NDD 治療的未來創(chuàng)造了前所未有的機(jī)會(huì)。該領(lǐng)域的進(jìn)展至關(guān)重要，因?yàn)?NDD 會(huì)給受影響的個(gè)人和家庭帶來巨大的終生疾病負(fù)擔(dān)。在本文中，我們回顧了 AAV 基因療法的獨(dú)特優(yōu)勢(shì)和挑戰(zhàn)。然后，我們研究了基因治療對(duì) 3 種更常見的 NDD（Rett 綜合征、脆性 X 綜合征和 Angelman 綜合征）以及 2 種不太常見的 NDD（SLC13A5 缺乏癥和 SLC6A1 相關(guān)疾?。┑臐撛趹?yīng)用。我們將回顧每種疾病的可用自然史和臨床前研究的現(xiàn)狀，包括討論 AAV 基因療法在每種疾病中的應(yīng)用。脆性 X 綜合征；基因治療;神經(jīng)發(fā)育障礙；雷特綜合征； SLC13A5; SLC6A1。

神經(jīng)及精神疾病及其并發(fā)征、合并征國際數(shù)據(jù)庫描述：

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.