Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

ABSTRACT: Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, and an inability to predict the impact of genetic variation on the encoded protein function. Diagnostic challenges posed by undiagnosed diseases have solutions in model organism research, which provides a wealth of detailed biological information. Model organism geneticists are by necessity experts in particular genes, gene families, specific organs, and biological functions. Here, we review the current state of research into undiagnosed diseases, highlighting large efforts in North America and internationally, including the Undiagnosed Di

SUBMITTER: Wangler MF 

PROVIDER: S-EPMC5586389 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature