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2. 发明申请

WO2017027412A1 DEVICES, COMPOSITIONS, AND RELATED METHODS FOR DIAGNOSING AUTISM 审中-公开
标题翻译：装置，组成和相关的诊断方法
公开(公告)号：WO2017027412A1
公开(公告)日：2017-02-16
申请号：PCT/US2016/045881
申请日：2016-08-05
申请人： THE REGENTS OF THE UNIVERSITY OF CALIFORNIA
发明人： GARGUS, Jay , SCHMUNK, Galina , PARKER, Ian , SMITH, Ian
IPC分类号： C12Q1/02
CPC分类号： G01N33/6872 , G01N2800/28
摘要： Disclosed herein are biomarkers for determining susceptibility to Autism Spectrum Disorder (ASD). Susceptibility to ASD is determined by detecting IP3R Ca2+ signaling activity level in cells, wherein a decrease in IP3R Ca2+ activity is indicative of ASD susceptibility. Also disclosed herein are methods of screening a therapeutic agent for ASD. A candidate drug is determined to be a therapeutic agent for treatment of ASD if the IP3R Ca2+ signaling activity is higher in the presence of the candidate drug than in its absence. Further disclosed herein are methods for prognosis, diagnosis, or treatment for an ASD, comprising determining IP3R Ca2+ signaling activity level in a said biological sample; and comparing it to a reference value from a control subject, where a lower activity level than the reference value in the sample is indicative of the presence of an autism spectrum disorder.
摘要翻译：本文公开了用于确定对自闭症谱系障碍（ASD）的易感性的生物标志物。通过检测细胞中IP3R Ca2 +信号活性水平来确定ASD的易感性，其中IP3R Ca2 +活性的降低指示ASD易感性。本文还公开了筛选ASD治疗剂的方法。如果在候选药物存在下IP3R Ca2 +信号传导活性较高，则候选药物被确定为治疗ASD的治疗剂。本文进一步公开的是用于ASD的预后，诊断或治疗的方法，包括确定所述生物样品中的IP3R Ca2 +信号传导活性水平; 并将其与来自对照受试者的参考值进行比较，其中与样品中的参考值相比较低的活性水平指示存在自闭症谱系障碍。

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