Rare Diseases: New Therapeutic Avenues
Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome
Modulation of proteostasis and protein trafficking: a therapeutic avenue for misfolded G protein-coupled receptors causing disease in humans
Pharmacologic normalization of pathogenic dosage underlying genetic diseases: an overview of the literature and path forward
P4 medicine for epilepsy and intellectual disability: nutritional therapy for inherited metabolic disease
The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases
An illustration of nerve, muscle and DNA. It can be interpreted as a genetic mutation that causes neuromuscular disorders, or the wave of genetic-based therapies for neuromuscular disorders. The colourful dots represent unique individuals affected by rare diseases. For more details on the development of genome engineering in congenital muscular dystrophy, see the review by Kemaladewi et al. on pages 11–18.