Creating a phenotypic catalogue of synaptic vesicle cycling disorders

创建突触小泡循环障碍的表型目录

• 批准号: nhmrc : 2003710
• 金额: $ 87.7万
• 依托单位国家: 澳大利亚
• 项目类别: Ideas Grants
• 财政年份: 2021
• 资助国家: 澳大利亚
• 起止时间: 2021-01-01 至 2024-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/creating-phenotypic-catalogue-cycling-disorders/1780200
• 关键词: Creating; phenotypic; catalogue; synaptic; vesicle

Developmental disorders affect 2-5% of children. In order to understand how these mutations will likely affect neurological function in these individuals, and to develop a tailored care and treatment program, we must first understand how these mutations affect neuronal communication. This research program will identify the underlying cause of neurological dysfunction in a subset of these disorders (synaptic vesicle cycle disorders), affecting 1200-3000 children in Australia alone.

发育障碍影响2-5％的儿童。为了了解这些突变如何影响这些人的神经功能，并制定量身定制的护理和治疗计划，我们必须首先了解这些突变如何影响神经元的沟通。该研究计划将确定这些疾病（突触囊泡循环疾病）中神经功能障碍的根本原因，仅影响澳大利亚的1200-3000名儿童。