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Tay-Sachs and Related Diseases (TSRD) cause relentless brain degeneration in infants and children: Born healthy- they die within a few years. Doctors are investigating whether gene therapy will benefit this devastating condition.
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Classical Tay-Sachs disease presents in early infants with reduced activity, impaired vision, reduced muscle tone, spastic limb weakness and prominent startle reactions. Seizures develop within the first year and there is rapid cognitive decline. Death is almost invariable within four years. Tay-Sachs is characterised by a deficiency in an important enzyme, which causes neuronal death and inflammation. The researchers have previously shown that using a viral vector to re-introduce the enzyme to the brain before damage has occurred can prevent premature death.