National Institute of Neurological Disorders and Stroke 5R01NS126398-04

Sodium channel mutations as a possible cause for primary dysautonomia

This award funds research on primary dysautonomia, focusing on genetic mutations in voltage-gated sodium channels. The project involves exome sequencing and developing animal models to study disease mechanisms and test treatments.

Description

Primary Dysautonomia (PD) is a condition in which the autonomic nervous system does not function correctly leading to disabling and pervasive disease. To investigate the pathogenesis of PD, a large-scale exome sequencing project was initiated, identifying mutations in voltage-gated sodium channels as clinically relevant. The project aims to create robust animal models to test therapeutics and understand the causes of PD.

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