NIH grant advances Tay-Sachs disease gene therapy
Families' donations crucial to start-up of Boston-based research consortium
"The consortium has been held together with funds raised by people affected by this terrible disease," said Boston College Professor of Biology Thomas Seyfried, whose lab is part of the consortium. "People were pounding the pavement raising money. It was critical to our work and for these families, who have lost children, who have a vested interest in this research."
In addition to the Seyfried lab, the consortium includes University of Massachusetts Medical School professor and project manager Miguel Seña-Esteves, Dr. Tim Cox, University of Cambridge (U.K.), Dr. Florian Eichler, Massachusetts General Hospital, and Auburn University Professor Doug Martin.
A fatal genetic disorder most often found in children of Eastern European Jewish descent, Tay-Sachs typically claims its victims before they reach age 5. There are variants that affect children of Irish and French-Canadian descent as well. While genetic screening has greatly reduced deaths from Tay-Sachs, approximately 25-30 individuals die from the disease annually. Infants can show signs of the disease as early as six months, cease meeting developmental milestones, and then begin to lose motor skills. Children affected by juvenile onset show signs after age three and quickly begin to regress physically and mentally. Most children do not survive past age 5. For adults afflicted by late onset Tay-Sachs, symptoms are often confused with mental illness or other diagnoses.
Tay-Sachs disease creates an enzyme deficiency that allows harmful quantities of a fatty substance, or lipid, to build up in the nerve cells of the brain, resulting in a relentless deterioration of mental and physical abilities. Consortium researchers say their therapy will battle the disease at the cellular level.
Most read news
Other news from the department science
Get the life science industry in your inbox
From now on, don't miss a thing: Our newsletter for biotechnology, pharma and life sciences brings you up to date every Tuesday and Thursday. The latest industry news, product highlights and innovations - compact and easy to understand in your inbox. Researched by us so you don't have to.