Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.

ABSTRACT: Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes and diseases, however, has remained challenging. Significant progress has been made, including advances by the National Institutes of Health (NIH)-funded Undiagnosed Diseases Network (UDN). However, 6000-13,000 additional disease genes remain to be identified. The continued discovery of rare diseases and their genetic underpinnings provides benefits to affected patients, of whom there are more than 400 million worldwide, and also advances understanding the mechanisms of more common diseases. Platforms employing model organisms enable discovery of novel gene-disease relationships, help establish

SUBMITTER: Baldridge D 

PROVIDER: S-EPMC8103593 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature