An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models.

ABSTRACT: As sequencing technology improves, the identification of new disease-associated genes and new alleles of known genes is rapidly increasing our understanding of the genetic underpinnings of rare diseases, including neuromuscular diseases. However, precisely because these disorders are rare and often heterogeneous, they are difficult to study in patient populations. In parallel, our ability to engineer the genomes of model organisms, such as mice or rats, has gotten increasingly efficient through techniques such as CRISPR/Cas9 genome editing, allowing the creation of precision human disease models. Such in vivo model systems provide an efficient means for exploring disease mechanisms and identifying therapeutic strategies. Furthermore, animal models provide a platform for preclinical

SUBMITTER: Hines TJ 

PROVIDER: S-EPMC8762301 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature