Tay Sachs Essay

Tay-Sachs is a disease that is usually found in young children, although there are rare juvenile and adult cases. Symptoms appear in seemingly healthy infants at approximately 3-6 months of age, it is always fatal. Primary symptoms include rapidly declining development, weakening of muscles and loss of motor skills. These are followed by increased startle reflex, blindness, deafness, and inability to swallow or chew, mental retardation, paralysis and dementia. This is followed by death at age 4 or 5.

Tay-Sachs begins as a defective gene on chromosome 15. It affects the body’s production of hexosaminidase, which is a very important protein that breaks down a chemical in our bodies called gangliosides. The gangliosides then buildup in the brain and in time caused death. The Tay-Sachs gene is recessive so it is possible to be a carrier for a child to be born with the disease. Both parents must be carriers if two carriers have a baby there is a 50% chance of the child being carrier 25% chance that the child has no disease at all and a 25% chance of the child developing the disease. Diagnosis can be made by checking parents for the Tay-Sachs gene or by taking an enzyme analysis. To check the levels of hexa salmon IDs in the child, an eye examination can be made to reveal a cherry red colored spot in the macula at the back of the eye this is a telltale for a genetic disease. There are …show more content…
It seems that there’s a hopeful future in developing a cure for Tay-Sachs, it is important for us to be educated and to understand the complexity and importance of genetics and genetic disorders. Understanding the disorders will help raise awareness in therefore raise funding for diseases like Tay-Sachs, which in turn will hopefully bring us closer to a cure for all genetic