In a victory for families who dug into their own pockets to fund new research, the National Institutes of Health has awarded a $3.5-million grant to the Boston-based Tay-Sachs Gene Therapy Consortium to prepare a gene therapy for human clinical trials in a bid to halt the fatal genetic disorder.
With a plan to initiate human trials within four years, the NIH award was eagerly awaited by Tay-Sachs families and their supporters, who raised nearly $600,000 to assemble the international consortium of experts and help maintain its research agenda while scientists worked to secure federal funding. The NIH grant will help advance the gene therapy from animal tests to human clinical trials.
"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 Se-a-Esteves, Dr. Tim Cox, University of Cambridge (U.K.), Dr. Florian Eichler, Massachusetts General Hospital, and Auburn University Professor Doug Martin.
"We see this as a tremendous achievement," said Susan Kahn, executive director of the Boston-based National Tay-Sachs and Allied Diseases Association, which made establishing the consortium a top research priority. "Without the initial funding from families and donors, we might never have seen this day come. While we know much work lies ahead, the potential success of this gene therapy effort can ultimately go way beyond Tay-Sachs to other diseases that affect the brain."
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.