Gene for familial dysautonomia discovered

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Could lead to therapies for currently incurable disease

Familial dysautonomia is a neurodegenerative disease that mainly targets Ashkenazi Jews. The disease, which affects one in every 3,600 members of this group, impairs the development of the sensory and autonomic nervous systems. Babies born with the disease often have trouble sucking and swallowing, forcing many to be tube fed. Nor can they taste or cry since they lack taste buds and tears. Those affected also have problems controlling their heart rate and blood pressure. Nearly half die before reaching their 30th birthdays. Researchers recently discovered the gene that causes this disease. The immediate result of the discovery is to make it possible to easily identify those who carry the FD gene. The discovery also could lead to new therapies for the disease, which is currently incurable.