The adult epilepsy patient whole exome sequencing research project is a national multicenter large-scale clinical study initiated by Xiangya Hospital of Central South University, targeting adult epilepsy patients, evaluating the clinical value of whole exome sequencing (WES) in the auxiliary diagnosis of adult epilepsy patients, discovering new genes and new mutations related to adult epilepsy, analyzing the timing of introducing genetic testing into diagnosis, exploring the relationship between genetic variants and epilepsy classification and seizure classification, and conducting in-depth bioinformatics and statistical analysis and mining of the genetic data accumulated by the study to further understand the population genetic patterns and molecular pathogenesis of adult epilepsy.

This is a national multicenter large-scale clinical study that enrolls patients with global developmental delay who meet the inclusion criteria. Blood samples from patients and their parents are collected for WES+CNV-seq detection and LC-MS untargeted metabolomics detection. Cipher Genomics discovers new genes and mutations related to global developmental delay through large-sample genetic data, and analyzes the specific underlying mechanisms at the molecular level using bioinformatics methods.

Cipher Gene collaborated with 10 top-tier tertiary children's specialty hospitals in China to conduct the first prospective study in Asia on ketogenic diet therapy and genetic etiological exploration for infantile spasms. The research results have been published in international SCI journals. Cipher Gene was responsible for completing the whole exome sequencing and interpretation analysis of all samples in this project. Through this study, it was found that ketogenic diet has a good therapeutic effect on infantile spasms, and it also demonstrated the effectiveness of whole exome sequencing in the auxiliary diagnosis of infantile spasms. Early accurate diagnosis of the etiology of infantile spasms and the adoption of targeted effective treatment measures are of great significance for controlling infantile spasms as early as possible, improving children's cognitive and behavioral development, reducing drug side effects, and allowing more affected children to move toward health.

The China Epilepsy Gene 1.0 Project, in collaboration with the China Anti-Epilepsy Association (CAAE), performs whole-exome sequencing and analysis on blood samples from epilepsy patients. By adopting standardized and unified technical methods, it strengthens research on epilepsy pathogenicity risk assessment and drug-response-related genes, providing a reference basis for guiding clinical work and establishing relevant testing standards. This project actively seeks new genes, new phenotypes, and the relationships between genetic damage and clinical severity. Through closer interaction among epilepsy experts, patients, and sequence variant interpretation experts, combined with clinical information, it establishes new methods for evaluating the causality of genetic variants and provides personalized treatment strategies for patients.