Neurogenetic障碍:从测试到诊所

随着诊断技术的快速发展,精确neurogenetic障碍的病因已经开始被定义。复杂neurogenetic疾病现在深深地理解和临床表现的遗传背景,首次发现。精确诊断的发展提供了一种新型的空间“精密医学。”Identifying specific causes of neurogenetic diseases by using appropriate molecular sequencing methods has the potential to explore clinical phenotypes and provide the necessary basis for future precision therapy and genetic counseling. Currently, a lot of work is underway to bridge the gap between initial diagnosis and final treatment to some extent. However, due to the lack of a systematic method to collect the latest information in the field of precise diagnosis of neurogenetic disorders, a better understanding of genetic testing strategies in neurogenetic disorders is needed.

通过这个研究课题,我们希望告知未来推进诊断转换治疗或减轻neurogenetic疾病。特别,我们可以质疑是时候为神经系统疾病提供基因检测没有明确的病因。

因此,本研究课题旨在收集所有类型的未发表的原始手稿在基因和相关领域,描述最新进展在各种神经系统疾病,包括但不限于单基因神经紊乱,神经病变没有明确的病因,新的基因技术对儿童神经病学,神经肌肉疾病,运动神经元疾病,和其他相关主题。我们特别鼓励提交专注于致病基因或染色体异常,遗传测试策略,和随后的转型研究或服用横向视角。原始研究的文章,评论,更新通信,等等,欢迎。