The goal of the Cure Tay-Sachs Foundation is to fund the Research Initiatives that show promise to provide a treatment and ultimately a cure for Tay-Sachs disease (TSD). The research concepts are generally very complicated and therefore discourage the average person from gaining a good understanding. We are going to try and bridge that gap.
Our format will introduce each concept with a summary paragraph that will contain a link to a layman's explanation of the concept. The layman explanation will be very simplified – we will abandon the 20-letter words and impossible-to-read poster board presentations. We'll explain it like a Tay-Sachs sufferer's Dad might explain the concept to his friends. And then finally, we will try and link to some of the detail (complicated) research write-ups that the more curious (or experienced) people might crave.
The actual execution of this research is very complicated – that is why PhDs are paid to figure it out. We don't need to understand all the science behind the research - we want to grasp the concepts. There are Scientific Advisory Boards that can evaluate the progress of the research and determine if the science is meeting expectation. These are more PhDs reviewing PhDs. All of the Research Initiatives we discuss have shown enough promise to pass a Scientific Advisory Board review. Each initiative has its pros and cons and each initiative has its passionate followers and staunch critics. No research is universally accepted as the proper course.
Before we get started, we need a basic understanding of Tay-Sachs disease if we are to understand how or why these Research Initiatives show promise. We will again oversimplify to help gain a basic understanding. Tay-Sachs sufferers have two basic problems: they don't have enough (or any) Hex-A enzyme and they end up with too much GM2 waste. Hex-A and GM2 are abbreviations we will see a lot. Hex-A is an enzyme that is created outside of a cell and absorbed into the cell. When the enzyme is mutated (like in TSD), the cell does not recognize it and quality control mechanism within the cell will not allow the mutated enzyme to be absorbed. The Hex A's primary job is to break down waste inside a storage area in a cell. That storage area is called a lysosomal storage area and that is why Tay-Sachs is considered a Lysosomal Storage Disease (LSD).
The waste product is called GM2. It is basically a big complicated strand that is too big and long for a brain cell to deal with. The Hex-A breaks the GM2 down into little strands that can be used by the cell. When there is too-little Hex-A, the large GM2 strands begin to accumulate (like if the garbage truck never came to your house). As the waste accumulates the storage area begins to swell; it is the swelling that causes the cell to malfunction and eventually die. Different enzymes and waste products are created in different parts of the body. Hex-A and GM2 are created in brain cells – that is why Tay-Sachs is primarily a neurological condition.
The less Hex-A a person has the faster waste builds up and the more severe the brain damage. Children affected by the Infantile form generally have no Hex-A, Juvenile On-Set suffers generally have little Hex-A, and finally Late On-Set victims have more Hex-A but not nearly enough to stop the progressive brain damage.
A major challenge in treating and curing Tay-Sachs is creating therapies that are able to cross the blood brain barrier. The brain is protected (as it should be) from foreign objects. Effective therapies need to be injected directly into the brain (dangerous), have the ability to cross the barrier (complicated), or somehow circumvent the barrier (difficult).
So let's look at some of the major Research Initiatives that – in concept – show hope for advancing the hunt for a cure.