渐冻人 z-bo 2020-09-16 446

　　Recently, the popular "Ice Bucket Challenge" event has brought the rare disease of gradual freezing into people's vision. Beijing Zhongguancun Huakang Gene Research Institute and the Third Affiliated Hospital of Peking University jointly announced that the molecular genetics research of gradual freezing human disease jointly carried out by the two units has recently completed research and successfully designed a genetic testing kit. At present, the medical community still does not understand the cause of gradual freezing, and only knows that 10% of patients are due to family inheritance. The significance of this research result is that 190 genes to be tested inherited in the family have been determined, and carriers of the gradual freezing syndrome gene can be detected.

　　The Department of Neurology of the Third Hospital of Beijing Medical University has been conducting ALS-related research for more than 20 years. The recently developed ALS genetics research platform based on next-generation sequencing technology can obtain better results in a shorter time and using fewer specimens than traditional detection methods. Accurate and massive genetic data, thereby greatly improving the detection efficiency of "gradually frozen people" pathogenic genes.