6th International Conference on Rare Diseases and Orphan Drug

Tay-Sachs disease is a rare, inherited disease . It is a type of lipid metabolism disorder in which deficiency of an enzyme ( hexosaminidase A ) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells. It makes a lot of a fatty substance to develop in the brain. This development ruins nerve cells, causing mental and physical complications. Maximum people have two healthy sorts of this HEXA gene, which provides guidelines to your body to make an enzyme (a type of protein) known as Hex-A. This enzyme inhibits the development of a fatty substance, called GM2 ganglioside, in the brain and spinal cord. Infants usually begin to show signs of the disease between 3 months and 6 months of age. Children with Tay-Sachs disease can become deaf, blind and paralyzed, and generally die by the age of 5. Tay-sachs is named after two physicians Warren Tay, was an ophthalmologist who was the first to determine a red dot on the retina of on...