Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy

Abstract Familial dysautonomia (FD) is a rare genetic, neurodevelopmental and neurodegenerative disorder, where a homozygous mutation in the ELP1 gene is responsible for defects and symptoms found in 99% of patients (1). FD symptoms mainly affect the peripheral nervous system (PNS) (2), including the autonomic and sensory nervous systems (ANS, SNS) (3). The ANS regulates unconscious physiological responses and maintains body homeostasis, such as heart rate, blood pressure, gland secretion, and breathing, which are vital for bodily function. The SNS is the key mediator that processes and relays sensory information from the internal and external environment to the brain, including limb position, temperature, and pain.