Two babies have received the first-ever gene therapy for Tay-Sachs disease after over 14 years of development.
The following essay is reprinted with permission from The Conversation, an online publication covering the latest research.
One of the symptoms of this disease was first described in 1883 by British ophthalmologist Warren Tay, who saw a cherry-red spot on the back of the eye of affected infants. In 1887, American neurologist Bernard Sachs described the profound neurological symptoms of Tay-Sachs in a seminal paper: Unfortunately there is still no treatment for Tay-Sachs. Aggressive medical treatment can extend survival but doesn’t improve neurological function. The only effective way to treat Tay-Sachs is to restore the HexA enzyme in the brain. This is difficult, however, because the blood-brain barrier prevents most molecules from passing into the brain.