Researchers at Auburn University leading the way with scientists searching for a cure for Tay-Sachs, a genetic disease that affects humans and animals alike.
The Tay-Sachs Gene Therapy Consortium has created a gene therapy that has been successful in extending the life of cats and Jacob sheep with Tay-Sachs. The consortium’s next step is to get federal approval to start clinical trials on humans within the next year.
“There is no question now the disease can be treated,” said Doug Martin, a consortium member and professor of anatomy, physiology and pharmacology at Auburn’s College of Veterinary Medicine. “It’s not perfect, but it can be improved.”
Martin, who studies Tay-Sachs in cats and sheep at the Scott-Ritchey Research Center in Auburn, developed a treatment that is administered by precise injections through holes in the skull, breaking the blood-brain barrier. The ultimate goal is to develop an IV drip that fully treats the central nervous system by providing doses to the brain and circulatory system.
“The treatment is in the first generation,” said Susan Kahn, executive director of the National Tay-Sachs and Allied Diseases Association (NTSAD), which helps fund research by the consortium and other scientists exploring different treatment methods. “But I think the promise for the future is very positive.”
Auburn’s Scott-Ritchey Research Center started studying Tay-Sachs in animals in the 1960s. Tay-Sachs is caused when the body does not produce enough of an enzyme, Hexosaminidase A (HexA), which recycles toxins from the body. The toxins build and progressively destroy the nervous system. The disease is genetic and deadly for children, usually killing them before they turn 5 years old.
Approximately 1 out of every 320,000 newborns in the U.S. is affected by the disease. Ashkenazi Jews, French Canadians, and American Cajuns are those at highest risk. Both parents must be a carrier to pass on the disease to their children. There is also a strain of Tay-Sachs that affects adults, but it is not as fatal as it is in children.
The new treatment developed by the consortium started after two Jacob sheep – a rare breed that dates back to Biblical times and named after Abraham’s grandson Jacob – became sick and died at a ranch in Texas. Edwin Kolodny, who co-founded the Tay-Sachs Gene Therapy Consortium in 2007, determined that the sheep died from Tay-Sachs and offered to buy the entire herd to continue testing for a cure. The sheep’s owners were happy to help.
“I have never been more touched than when I learned this could help children,” said Joan Horak, the herd’s original owner.
The herd was shipped off to Auburn in 2013 where they are still used to find a cure for Tay-Sachs. The Jacob sheep are important to this study because their genes that code for Tay-Sachs share an 86% DNA match with the HexA gene in humans.
While a cure for Tay-Sachs is still a long ways away, Martin says the advancement of gene therapy technology has set research to hyperspeed. The researchers at Auburn are only one part of a national team, but their contributions could one day save the lives of thousands of children in the future.
