Etiology

The way to test to see if the tay-sachs gene is present is by getting a blood test done. Everyone has two copies of the tay-sachs gene. This gene is HexA. The tay-sachs disease occurs when a person gene is not working properly and there is a mutation. One working gene and another working gene mean that the person is a carrier for tay-sachs. This still results in asymptomatic carriers, but when two people that are both carriers make a baby, there is an increased risk of the baby developing the disease.


https://my.clevelandclinic.org/childrens-hospital/health-info/diseases-conditions/hic-Tay-Sachs

This image describes how tay-sachs is passed down.


https://www.google.com/search?q=etiology+of+tay-sachs+disease&espv=2&biw=1366&bih=667&source=lnms&tbm=isch&sa=X&ved=0ahUKEwj7j8GuhOLKAhUJwmMKHd5pAFAQ_AUIBigB#imgrc=bTb28nnOjadurM%3A

Epidemiology

Tay-sachs is most prevalent in the Jewish population in Eastern Europe. A whopping 1 in 27 Jews in the United States carry the tay-sachs gene. In the non-Jewish population, the rate is 1 in 250 people affected with the tay-sachs gene. Interesting enough, if you are an ancestor of Ireland, you are at risk for the tay-sachs gene. In the Irish American population the rate is 1 in 50.

Below is the prevalence of the tay-sachs gene in the Jewish population. These are a few examples of high schools that surveyed for the frequency of tay-sachs gene.



http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802001000400007

So, you ask what is Tay-sachs? Many people have no idea what disease this is. Here... I'll tell ya.

Tay-Sachs is rare and passed from parent to baby. We have thousands of enyzmes in our body. In tay-sachs disease, there is a lack of a specific enzyme that breaks down fatty acids in the brain.

Missing this enzyme (which I'll describe in detail later) leads to a build up of toxic levels. This build up consists of fatty acids. Due to the body not being able to rid itself of certain fatty acids, the nerve cells are impaired.

This leads to blindness, paralysis, and death. A baby with tay-sachs will start showing symptoms at about 6 months old. Sadly, there is no cure.

Scientists are working on transferring the needed enzymes to these affected infants, however it is still being studied. At this point in time, there is only one method of prevention: to NOT have babies if both parents carry the gene. This is extremely challenging to ask of parents, so teaching must be a priority to them.

http://www.who.int/genomics/public/geneticdiseases/en/index2.html

This is an image of a child with tay-sachs disease. Found via google images.

I have become curious to what Tay-Sachs disease is really like. And as a future parent someday, it would scare me to death to not know what my child has. So let's go deeper shall we?