Creating a phenotypic catalogue of synaptic vesicle cycling disorders

2-5%的儿童会受到发育障碍的影响。为了了解这些突变将如何影响这些个体的神经功能，并开发出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通信。这项研究计划将确定这些疾病(突触小泡周期障碍)的子集中神经功能障碍的潜在原因，仅在澳大利亚就有1200-3000名儿童受到影响。

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.