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

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 Edito...

Full description

Saved in:
Bibliographic Details
Published in:Disease models & mechanisms 2019-02, Vol.12 (2)
Main Authors: Hmeljak, Julija, Justice, Monica J
Format: Article
Language:English
Subjects:
Amyotrophic lateral sclerosis
Animals
Clinical translation
CRISPR
Dietary supplements
Disease
Disease model
Disease Models, Animal
Face validity
Genetics
Genome editing
Genomes
Humans
Mutation
Organisms
Physiology
Rare disease
Rare diseases
Rare Diseases - genetics
Rare Diseases - therapy
Reproducibility of Results
Translational Medical Research
Validation studies
Validity
Worms
Zebrafish
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1754-8403
1754-8411
DOI:10.1242/dmm.039271