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Ion channels and transporters are critical for a wide range of physiological processes, from cell excitability and muscle contraction to hormone secretion and pain sensation. Mutations in ion channels can cause loss of function (LOF) or gain of function (GOF) and can underlie a wide range of human diseases, including neuropathic pain, respiratory diseases such as cystic fibrosis, neurodegeneration, metabolic diseases, cancer and cardiac arrhythmia. The advancement of research tools leads to a better understanding of human disease mechanisms to ultimately improve human health and well-being.