This is somewhat “old” news in the Tay Sachs community but certainly worth sharing! At the end of August, NIH (National Institutes of Health) awarded a $3.5 million grant to the Tay Sachs Gene Therapy Consortium to continue researching a cure for Tay Sachs. Yes, a CURE!
Tay Sachs families and supporters raised $600,000 to assemble this international consortium of experts. The $3.5 million grant money from NIH will help advance an experimental gene therapy for Tay-Sachs and Sandhoff (similar to Tay Sachs) diseases from animal tests to human clinical trials.
From the press release about the $3.5 grant: “The consortium was formed two years ago as scientists refined a way to deliver two human genes – known as HexA and HexB – which are deficient in Tay-Sachs and Sandhoff diseases, respectively. Injection of these genes in the brain has been shown in laboratory mice to spur production of normal enzymes at levels sufficient to correct the enzymatic deficiency throughout the entire brain of these subjects.”
I think this means that in a few years a gene therapy will be ready to try to stop the progression of Tay Sachs in humans. If a young baby is diagnosed, then he or she will have a chance at a normal life.
As parents who have sat through a meeting in which we found out that our daughter has a disease with no cure and no treatment and that she would rapidly lose her vision, ability to swallow and move and awareness and that she would have uncontrollable seizures and probably die within 2-3 years from pneumonia, I cannot imagine how different it will be for parents who are given hope of a cure.
This therapy will be too late for Carmen and I am not even sure it would help her as she has the AB Variant. She has all the HexA she needs but is missing the protein activator to make it work. But, every step forward in Tay Sachs research is a step forward for other diseases that affect the brain.
If you wish to learn more about one group of parents who have raised a large chunk of money to help find a cure, please visit the Cure Tay-Sachs Foundation.
I just visited the site and was amazed at the beautiful children. They are so precious and I see what they mean about children with Tay Sachs looking like dolls. Such beauty!