The Lek lab is focused on understanding

The Lek lab is focused on understanding the genetic mechanism of rare diseases that may lead to therapies. Methods Development! We wanna use large genomic data sets to build computational methods to improve variant interpretation. Novel disease gene discovery! We are part of the Pediatric Cardiac Genomics Consortium. We are contributing to the genomic analysis of Recurrent Pregnancy Loss. We aim to advance rare disease genetics in American Asian communities. Interpretation of variants of uncertain significance! We have built scalable cost-effective high-throughput assays that can distinguish pathogenic from benign variants. Genetic mechanisms in Muscle Diseases! We have developed cell models to explore the mechanism of various diseases including Facioscapulohumeral Muscular Dystrophy, GNE Myopathy, Dysferlinopathy and Duchenne and Becker muscular dystrophy. Development of Genetic therapies for Muscle Diseases! We didn’t want to just deliver bad news faster through improving diagnosis and wanted to be involved in the full patient journey, which involves translating genetic discoveries into therapies. We have active projects developing therapies for Duchenne Muscular Dystrophy, GNE Myopathy and Limb Girdle Muscular Dystrophy.