Prioritizing and investigating the role of disease gene candidates

Researchers have described a new approach to uncover genetic causes of neuromuscular disorders, investigating gene expression at the individual cell level.

At WMS 2020, the researchers from the Harry Perkins Institute of Medical Research, in Perth, Australia, reported on the development of a way to expand knowledge of the muscle genome, and to investigate causes of monogenetic neuromuscular disorders.

They noted that about half of all patients remain without a genetic diagnosis after screening, and that there are hundreds of rare coding variants in genes with unknown function in muscle. However, next-generation sequencing now allows easier identification of candidate genes, especially for recessive diseases.