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To date there is no causal therapy for SMA.
It may map the road to a causal therapy for patients with polycystic liver disease.
The causal therapy for lupus, based on the endothelial deprotection hypothesis, would be the restoration of endothelial integrity by the introduction or induction of C1q or nIgM.
Moreover, the rescue of the CPVT-disease phenotype in a patient-specific iPSC-based system by dantrolene provides the first evidence that, as in the case of malignant hyperthermia, correction of defective inter-domain interaction within mutated human RYR2 may represent an effective novel causal therapy for CPVT1.
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Since current therapeutic options for HCM only alleviate symptoms, these findings open new horizons for causal therapy of the severe forms of the disease.
Although further optimization is needed to maintain the therapeutic cardiomyopathy rescue over an extended period, our findings paves the way for a causal therapy of HCM.
Hence, pharmacological correction of this ion transport defect by targeting of mutant CFTR, or alternative ion channels that may compensate for CFTR dysfunction, has long been considered as an attractive approach to a causal therapy of this life-limiting disease.
Therefore, our findings laid the first stone towards a causal therapy of HCM.
As there is no causal therapy available for most mitochondrial diseases, the early diagnosis of biochemical and genetic defects is of utmost importance for prevention and genetic counseling in affected families.
Therefore, it represents a prime target for causal therapies of immune disorders in future.
This insight is decisive to create a basis for development of new causal therapy modalities.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com