With the rapid development of diagnostic techniques, the precise etiology of neurogenetic disorders has begun to be defined. Complex neurogenetic diseases are now deeply understood with the genetic background while first identified by clinical manifestations. The development of precise diagnostics provides room for a new type of "precision medicine." 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.
Through this Research Topic, we hope to inform future advancing diagnostic transformation in treating or mitigating neurogenetic diseases. Specially, we may question whether it is time to offer genetic testing for neurological diseases without definite etiology.
Therefore, this Research Topic aims to collect all types of unpublished original manuscripts in the genetic and related field, to describe recent advances in various neurological disorders, including but not limited to single-gene neurological disorders, neuropathy without definite etiology, new genetic technologies for child neurology, neuromuscular disorders, motor neuron disorders, and other related topics. We especially encourage submissions focused on pathogenic genes or chromosome abnormality, genetic testing strategy, and subsequent transformational research or those taking a lateral perspective. Original research articles, updated reviews, communications, etc., are welcomed.
With the rapid development of diagnostic techniques, the precise etiology of neurogenetic disorders has begun to be defined. Complex neurogenetic diseases are now deeply understood with the genetic background while first identified by clinical manifestations. The development of precise diagnostics provides room for a new type of "precision medicine." 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.
Through this Research Topic, we hope to inform future advancing diagnostic transformation in treating or mitigating neurogenetic diseases. Specially, we may question whether it is time to offer genetic testing for neurological diseases without definite etiology.
Therefore, this Research Topic aims to collect all types of unpublished original manuscripts in the genetic and related field, to describe recent advances in various neurological disorders, including but not limited to single-gene neurological disorders, neuropathy without definite etiology, new genetic technologies for child neurology, neuromuscular disorders, motor neuron disorders, and other related topics. We especially encourage submissions focused on pathogenic genes or chromosome abnormality, genetic testing strategy, and subsequent transformational research or those taking a lateral perspective. Original research articles, updated reviews, communications, etc., are welcomed.