Challenges and opportunities for precision medicine in neurodevelopmental disorders.
Challenges and opportunities for precision medicine in neurodevelopmental disorders.
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DOI：
10.1016/j.addr.2022.114564
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发表时间：
2022-12
影响因子：
16.1
通讯作者：
中科院分区：
文献类型：
--
作者：
神经发育障碍（NDD）包括广泛的疾病，由于其起源于大脑发育过程而相互关联，包括跨年龄段的各种疾病，包括自闭症谱系障碍（ASD）和精神分裂症（SCZ）。这些疾病的临床治疗传统上集中于症状管理，因为发育中断的严重程度差异很大，并且这些疾病的精确分子机制，时间和进展通常是未知的。数百个基因已被确定为ASD和SCZ的主要风险因素，这创造了新的潜在治疗途径，并且有强有力的证据表明，这些基因聚集在关键的分子途径上，为精准医学提供了机会。在这篇综述中，我们重点关注具有已知遗传病因的ASD和SCZ的形式，并讨论研究技术的进展，从而能够更系统地了解疾病进展。我们强调了靶向临床治疗的最新进展，并讨论了正在进行的临床前工作以及旨在为NDD精准医学开发可扩展平台的新举措。
Neurodevelopmental Disorders (NDDs) encompass a broad spectrum of disorders, linked because of their origins in brain developmental processes, including diverse conditions across the age span, including autism spectrum disorders (ASD) and schizophrenia (SCZ). Clinical treatment of these disorders has traditionally focused on symptom management, as the severity of developmental disruption varies widely and the precise molecular mechanisms, timing, and progression of these disorders is usually not known. Several hundred genes have been identified as major risk factors for ASD and SCZ, which creates new potential therapeutic avenues, and there is strong evidence that these genes converge upon key molecular pathways, pointing to opportunities for precision medicine. In this review, we focus on forms of ASD and SCZ with known genetic etiologies and discuss advances in research technologies that enable a more systemic understanding of disease progression. We highlight recent advances in targeted clinical treatment and discuss ongoing preclinical efforts as well as new initiatives aimed at developing scalable platforms for NDD precision medicine.
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DOI：
10.1016/s1474-4422(15)00044-7
发表时间：
2015-11
期刊：
The Lancet. Neurology
影响因子：
--
作者：
Geschwind DH;State MW
通讯作者：
State MW
影响因子：
64.5
作者：
Andersen J;Revah O;Miura Y;Thom N;Amin ND;Kelley KW;Singh M;Chen X;Thete MV;Walczak EM;Vogel H;Fan HC;Paşca SP
通讯作者：
Paşca SP
影响因子：
3.2
作者：
Bhat, Anjana Narayan
通讯作者：
Bhat, Anjana Narayan
影响因子：
17.1
作者：
Berry-Kravis, Elizabeth;Portes, Vincent Des;von Raison, Florian
通讯作者：
von Raison, Florian
自闭症谱系障碍（ASD）、精神分裂症和双相情感障碍中全转录组异构体水平失调
影响因子：
56.9
作者：
Gandal, Michael J.;Zhang, Pan;Geschwind, Daniel H.
通讯作者：
Geschwind, Daniel H.