人类基因SYNGAP1的变体是自闭症谱系障碍（ASD）的最高风险因素之一。在一项新的研究中，来自美国南加州大学等研究机构的研究人员发现SYNGAP1基因对大脑发育的影响以前从未被人们意识到。他们展示了 人类基因SYNGAP1的变体是自闭症谱系障碍（ASD）的最高风险 ...

根据近日发表在《自然神经科学》杂志上的一项新研究，SYNGAP1基因的变异是自闭症谱系障碍（ASD）的首要危险因素，但关于它对发育中的大脑产生的影响之前并未有相关研究。SYNGAP1的致病变异一直被认为主要影响成熟神经元之间的突触，本项研究结果表明，它 ...

一种名为Syngap1的基因能够实现基于触摸的感知，而某些突变可能导致混合信号。 你可能几乎察觉不到，但我们日常所做的许多事情都需要大脑进行感知学习。无论是安全地穿过路口，还是快速从包里取出某样东西，都依赖于大脑首先为来自眼睛或指尖的感觉 ...

本研究针对SYNGAP1相关障碍（SRD）缺乏根本性治疗方案的临床困境，开发了基于AAV载体的基因补充策略。通过pan-neuronal SYNAPSIN I启动子驱动人源SYNGAP1表达，成功逆转Syngap1杂合小鼠的癫痫样活动、多动及冒险行为表型。尤为重要的是，在相当于人类诊断年龄的幼鼠 ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism.

CAMP4 Therapeutics reports promising results for CMP-SYNGAP-01 and CMP-CPS-001 in treating genetic disorders, with favorable safety data. CAMP4 Therapeutics announced promising results from its ...

The SYNGAP1 gene provides instructions for making a protein called SynGAP, which plays an essential role in nerve cells in the brain. SYNGAP1 mutations' prevalence is 2%-4% of sporadic (non-Inherited) ...

Mill Valley, CA – April 15, 2026 – CURE SYNGAP1, the premier global patient advocacy group dedicated to transforming the lives of those living with SYNGAP1-Related Disorders (SRD), today announced ...

57 hours and 56 minutes. That's how long it took three dads to drive across the country to raise money for their sons' rare genetic disease. Last week, Brett Stelmaszek, Kevin Frye and Peter ...