Animal Model Contributions to Congenital Metabolic Disease.

ABSTRACT: Genetic model systems allow researchers to probe and decipher aspects of human disease, and animal models of disease are frequently specifically engineered and have been identified serendipitously as well. Animal models are useful for probing the etiology and pathophysiology of disease and are critical for effective discovery and development of novel therapeutics for rare diseases. Here we review the impact of animal model organism research in three examples of congenital metabolic disorders to highlight distinct advantages of model system research. First, we discuss phenylketonuria research where a wide variety of research fields and models came together to make impressive progress and where a nearly ideal mouse model has been central to therapeutic advancements. Second, we review advance

SUBMITTER: Moro CA 

PROVIDER: S-EPMC8404832 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature