Tay Sachs Disease

There are two people that discovered Tay Sachs Disease unknowingly, Warren Tay and Bernard Sachs.  Due to the conditions that these two doctors observed the disease is named after them.

 

 In 1881 Warren Tay a British Ophthalmologist as well as an Assisted Surgeon encountered a twelve month baby who showed a red cherry spot on the retina of the eye.  The baby had problems moving his hands and legs, which is typically unusual as babies during this age begin to crawl and move. Warren also observed another family member who showed the red cherry eye symptom as the baby, and he therefore concluded that the disease was part of the family’s gene.

 

Bernard Sachs, who was a neurologist in New York, he described similar concepts as Warren Tay. Bernard Sachs discovered the changes that occur at the cellular level of an individual that exhibited the Tay Sachs disease. He noted that the Tay Sachs disease is commonly found in babies of the eastern European Jews, as well as the disease may appear in individuals of any background and race.

 

As more awareness of the Tay Sachs disease spread in the 1900s more research was done. Two doctors, Dr. Shintaro Okada and Dr. John S. O’Brian, found a protein that is absent in individuals that have Tay Sachs disease, the Hexa A protein.  In the late 1980s chromosome 15 was found to be responsible for carrying the defected gene in Tay Sachs disease. By the mid-1990s 75 different mutations were identified to the gene of Tay Sachs, to date there have been 100 different mutations that have been found, that result in Tay Sachs.