Tay-Sachs disease research

Tay-Sachs disease research

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  • MR scanning images showing severe brain injury in a young girl with Tay-Sachs disease
    MRI showing severe brain injury in a young girl with Tay-Sachs disease

Tay-Sachs disease is a rare and usually fatal genetic disorder, which causes progressive damage to the nervous system.

Tay-Sachs disease is a notorious killer which has been known for about 140 years.  Although it is inherited, the child is born completely normal, and it is only after a few months that something wrong is noted.  The child becomes floppy and passive, sight is impaired, and eventually convulsions or seizures (fits) occur. Very alarmingly, there is a rapid loss of all faculties, so the baby cannot even feed itself and often chokes.  Without the help of a feeding tube, these babies die in the first year or two of life.

Research conducted at the University of Cambridge, and by collaborators in Alabama, has shown that it is possible to cure this condition by gene therapy; by introducing a normal copy of the gene (to supplement the activity of the genes that are slightly altered and inherited from carrier parents) into parts of the brain, it can have a widespread effect in correcting the abnormalities.  In experimental systems, if this gene therapy is given before serious manifestations have occurred, life is prolonged and neurological function is preserved.

Find out more

Tay-Sachs disease research website

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