From gene to treatment: supporting rare disease translational research through model systems

Julija Hmeljak; Monica J Justice

doi:10.1242/dmm.039271

From gene to treatment: supporting rare disease translational research through model systems

Dis Model Mech. 2019 Feb 22;12(2):dmm039271. doi: 10.1242/dmm.039271.

Authors

Julija Hmeljak¹, Monica J Justice²

Affiliations

¹ Disease Models & Mechanisms, The Company of Biologists, Bidder Building, Station Road, Histon, Cambridge CB24 9LF, UK.
² Program in Genetics and Genome Biology, The Hospital for Sick Children, and Department of Molecular Genetics, The University of Toronto, Toronto, Ontario M5G 0A4 Canada [email protected].

Abstract

Individual rare diseases may affect only a few people, making them difficult to recognize, diagnose or treat by studying humans alone. Instead, model organisms help to validate genetic associations, understand functional pathways and develop therapeutic interventions for rare diseases. In this Editorial, we point to the key parameters in face, construct, predictive and target validity for accurate disease modelling, with special emphasis on rare disease models. Raising the experimental standards for disease models will enhance successful clinical translation and benefit rare disease research.

Keywords: Clinical translation; Disease model; Face validity; Genome editing; Rare disease.

Publication types

Editorial

MeSH terms

Animals
Disease Models, Animal*
Humans
Rare Diseases / genetics*
Rare Diseases / therapy*
Reproducibility of Results
Translational Research, Biomedical*