Tay-Sachs Disease

Topics: Nervous system, Brain, Stem cell Pages: 3 (651 words) Published: October 13, 2010
Tay-Sachs Disease


The disease is named for Warren Tay (1843-1927), a British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye. It is also named for Bernard Sachs (1858-1944), a New York neurologist whose work several years later provided the first description of the cellular changes in Tay-Sachs disease. Sachs also recognized the familial nature of the disorder, and, by observing numerous cases, he noted that most babies with Tay-Sachs disease at that time were of Eastern European Jewish origin. Today, Tay-Sachs occurs among people of all backgrounds.


Tay-Sachs disease is caused by the absence or insufficient level of a vital enzyme called Hexosaminidase A (Hex-A). Without Hex-A, a fatty substance or lipid called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation, also called “substrate,” causes progressive damage to the cells. In Classic Infantile the destructive process begins in the fetus early in pregnancy, although the disease is not clinically apparent (symptoms do not start) until the child is several months old. By the time a child with Tay-Sachs disease is three or four-years old, the nervous system is so badly affected that life itself cannot be supported. Even with the best of care, all children with classic Tay-Sachs disease die early in childhood, usually by the age of 5, although some do live longer.


To date, there is no cure or effective treatment for Tay-Sachs disease. However, there is active research being done in many investigative laboratories in the U.S. and around the world exploring a range of therapeutic approaches. For the first time in the history of the disease, there currently are clinical trials, testing the potential of a substrate reduction drug (miglustat) in all three forms of Tay-Sachs. The uses of enzyme replacement therapy to provide the Hex-A that is missing in babies...
Continue Reading

Please join StudyMode to read the full document

You May Also Find These Documents Helpful

  • Tay-Sachs Disease Research Paper
  • Tay-Sachs Essay
  • Tay-Sachs Baby Essay
  • Tay-Sachs Disease Research Paper
  • Tay Sachs Disease Essay
  • Tay-Sachs Essay
  • Essay about Tay Sachs
  • tay sachs Essay

Become a StudyMode Member

Sign Up - It's Free