H-ABC Rare Genetic Disease Research

A personal campaign sponsored by Adeline Vanderver


TUBB4A mutations cause H-ABC, or hypomyelination with atrophy of the basal ganglia and cerebellum, as well as other forms of hypomyelinating leukodystrophies. Researchers at Children’s National are focusing on how mutations in this gene disrupt tubulin, or the skeleton of the cell, and potentially the movement of critical factors within brain cells. They have generated models using brain cells and animal models mimicking the disease, and are focused on how information from these studies can be used to identify a treatment for H-ABC.
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