Susan Spencer writing for the Worcester Telegram reports that the University of Massachusetts Medical School received $1.4 million in research grants from Toronto-based Blu Genes Foundation to run a Phase I/Phase II clinical trial for the genetic disorder, Tay-Sachs. It represents the first gene therapy to correct the genetic expression that is genesis of the disease. Tay-Sachs is a genetic disorder caused by the absence of beta-hexosaminidase (HexA). This missing enzyme triggers damage to cells which results in progressive neurological disorders. See the NIH overview.
Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana.