Syntaxin-bindingprotein1相关疾病(STXBP1-RD)是一种罕见的神经系统疾病,与整体神经发育迟缓相关,智力残疾,早发性癫痫,电机异常,和自闭症。潜在的病理生理学源于STXBP1基因的从头突变,它编码STXBP1蛋白。STXBP1蛋白参与突触小泡融合和神经递质释放。STXBP1基因的致病变异通常导致单倍体不足,神经递质释放受损,以及随后的神经元通讯功能障碍。STXBP1基金会成立于2017年,旨在支持患有STXBP1-RD的儿童家庭,并加速开发有效的疗法,最终,一种治疗疾病的方法.基金会最初支持旨在更好地了解疾病的复杂表型表现以及研究界可用于更全面地表征STXBP1功能和疾病致病性的动物和细胞模型的开发的研究。2023年,基金会开始实施STXBP1快速推进战略计划,其中包括前瞻性自然史研究和实质性生物标志物工作,以推动STXBP1-RD新的精准疗法的开发。
STXBP1:快进到更光明的未来STXBP1相关疾病(STXBP1-RD)是一种罕见且严重的脑部疾病。这会导致开发的延误,学习问题,癫痫发作始于早期,运动挑战,有时是自闭症。主要问题来自STXBP1基因的新突变,这使得脑细胞正常交流所需的蛋白质。当这个基因不能正常工作时,没有足够的蛋白质,导致脑细胞通讯的麻烦.为了帮助家庭处理这种疾病并加快寻找有效的治疗方法,STXBP1基金会始于2017年。起初,他们资助了研究,以更好地了解这种疾病,并创建测试治疗的模型。然后,2023年,他们推出了STXBP1快速前进战略计划。该计划包括研究该疾病如何自然发展,并研究有助于开发STXBP1-RD的精确治疗方法的标志物。
Syntaxin-binding protein 1 related disorder (STXBP1-RD) is a rare neurologic disorder associated with global neurodevelopmental delay, intellectual disability, early-onset epilepsy, motor abnormalities, and autism. The underlying pathophysiology stems from a de novo mutation in the STXBP1 gene, which codes for the STXBP1 protein. The STXBP1 protein is involved in synaptic vesicle fusion and neurotransmitter release. Pathogenic variants in the STXBP1 gene generally result in haploinsufficiency, an impairment in neurotransmitter release, and subsequent dysfunction in neuronal communication. The STXBP1 Foundation was founded in 2017 to support families of children with STXBP1-RD and accelerate the development of effective therapies and, ultimately, a cure for the disorder. The Foundation initially supported research aimed at better understanding the complex phenotypic presentation of the disease as well as the development of animal and cellular models usable by the research community to more fully characterize STXBP1 function and disease pathogenicity. In 2023, the Foundation embarked on its STXBP1 Fast Forward Strategic Plan, which includes a prospective natural history study and substantive biomarker work to drive forward the development of new precision therapies for STXBP1-RD.
STXBP1: fast-forward to a brighter future STXBP1-related disorder (STXBP1-RD) is a rare and severe brain condition. It causes delays in development, learning problems, seizures starting at an early age, movement challenges, and sometimes autism. The main problem comes from a new mutation in the STXBP1 gene, which makes a protein needed for brain cells to communicate properly. When this gene doesn’t work right, there’s not enough of the protein, leading to trouble with brain cell communication. To help families dealing with this disorder and speed up the search for effective therapies, the STXBP1 Foundation started in 2017. At first, they funded studies to understand the disease better and create models for testing treatments. Then, in 2023, they launched the STXBP1 Fast Forward Strategic Plan. This plan includes studying how the disorder progresses naturally and researching markers that could help develop precise treatments for STXBP1-RD.