PT  - JOURNAL ARTICLE
AU  - Hmeljak, Julija
AU  - Justice, Monica J.
TI  - From gene to treatment: supporting rare disease translational research through model systems
AID  - 10.1242/dmm.039271
DP  - 2019 Feb 01
TA  - Disease Models & Mechanisms
PG  - dmm039271
VI  - 12
IP  - 2
4099  - http://dmm.biologists.org/content/12/2/dmm039271.short
4100  - http://dmm.biologists.org/content/12/2/dmm039271.full
SO  - Dis Models Mech2019 Feb 01; 12
AB  - 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.