rare disease
- A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
Summary: We describe a mouse model (KI-STIM1I115F) that displays the clinical hallmarks of tubular aggregate myopathy. This model provides a new opportunity to characterize the disorder and test novel therapeutic strategies.
- From gene to treatment: supporting rare disease translational research through model systems
Summary: This Editorial discusses the importance of model systems with accurate face, construct, target and predictive validity for rare disease research.
- Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice
Summary: A new mouse model reproduces the predominant genetic disposition of patients affected by erythropoietic protoporphyria, a rare disease associated with extreme pain after light exposure.