Tay-Sachs

Future Treatments

Scientists have been looking into stem cell transplantation using umbilical cord blood. It has been attempted with a few young children, but at the moment there is not enough information about results to accurately depict if this treatment is beneficial at all. There is also hope that Gene therapy projects and neural stem cell therapy may bring possible treatments.

What is Tay-Sachs?

Tay-Sachs is a rare inherited disorder that destroys nerve cells in the brain and spinal cord.

Treatment History

Back when Tay-Sachs was discovered, there wasn't enough technology to be able to research possible cures for the disorder. However because this disorder is in the nervous system and progresses so rapidly, to this day there is still no treatment.

Life Expectancy/Quality

Children with Tay Sachs tend to only live until age five, or, in severe cases, they won't even make it until then.Life is extremely rough for children with Tay-Sachs. They're symptoms are constant and they get no break. And since eventually they lose all motor skills and mental functions and are unable to do anything, they just have to wait until the disease takes them.

Mutation Type

It is a single base substitution mutation that consists of 65 different possibilities to get the genes. It leads to a broken hexa enzyme on the 15th chromosome.

Awareness

Not many people are aware of Tay-Sachs, as it is still a very rare disorder. But as time goes on and more cases appear, awareness for this disorder raises.

Symptoms

Tay Sach's most commonly appears in infants. Usually the symptoms don't start showing until 3-6 months. The first noticeable symptoms are muscles used for movement weakening and development slowing. Sometimes the young children develop a startled reaction to loud noises. As the disease progresses, the young children start to experience seizures, loss of eyesight and hearing and possible paralysis. On occasion the children develop a cherry eye spot which is a form of eye abnormality caused by Tay-Sachs.

Inheritence

Tay Sachs is an autosomal recessive genetic disorder, you obtain it from your parents if both of them have it and pass down the gene.

Discovery

Tay-Sachs is named after Warren Tay, ophthalmologist and Bernard Sachs, neurologist. Warren Tay first described a patient in 1881 after noticing the cherry eye spot in a patient's eye. Years later, Bernard Sachs reported the cellular changes in Tay-Sachs. Bernard also noticed the heritage patterns shows in this disorder and observed that most babies diagnosed (at the time) were of Eastern European origin.

How common is Tay-Sachs

The disorder is especially common with Eastern European Jews (Ashkenazi Jewish) and Irish. In the U.S. 1 out of 27 Jews are a carrier or have the disorder and 1 out of 50 Irish are a carrier or have the disorder. Jews are common of getting it because of minimal migration, low rates of conversion to Judaism and marrying only other Ashkenazi Jews, the gene background of people from the Ashkenazi Jewish community is more similar, or homogeneous, than the general population so there's less genetic diversity.

Current Treatments

There are currently no treatments or cures for Tay-Sachs. There are treatments for some of the symptoms such as seizures, but nothing specific to the disorder. However, there is active research being done in many labs across the US and the world.