[Music] TX disease is a very rare autosomal recessive genetic disorder that causes Progressive deterioration of nerve cells and of mental and physical abilities it begins at around 6 months and usually results in death by the age of four with common symptoms including blindness deafness and paralysis the disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells eventually leading to the premature death of cells in the 1960s and early 1970s when the biochemical basis of TAC disease was first becoming known no mutations had been sequenced directly for genetic diseases researchers of that era did not yet know how common polymorphisms would prove to be further research has proven that a large variety of different hexa mutations can cause the disease because it was one of the first genetic disorders for which widespread genetic screening was possible it is one of the first genetic disorders in which the prevalence of compound heterozygosity has been demonstrated tasac is named after the British opthalmologist Warren Tay who in 1881 first described a symptomatic red spot on the retina of the eye and after the American neurologist Bernard saxs of Mount Si Hospital New York who described in 1887 the cellular changes of tasac disease despite the increase in genetic screening tasac is still prevalent in several populations for the general public any one person has a 1 in 250 chance of carrying a defective copy of the gene for populations such as ashkanazi Jews French Canadians the Pennsylvania Amish and Louisiana occasion the risk of carrying a defective Gene is 1 in 27 the reason for such a higher rate has to do with the limited gene pool and thus limited genetic diversity these factors make it harder for potentially harmful genes to be removed from the gene pool one of the most frightening aspects of TX is that out of the 1.2 million carriers within the US most of them are completely unaware unless they have had a family history of the disease most people have no reason to think that they are carriers of a deadly condition as of yet there is no cure for TX in in fact there isn't even a treatment there are tests that can be performed to identify if a fetus has the disease one of the tests involves searching for the hexa enzyme which is responsible for breaking down lipids which cause tasac symptoms another screening method is a genetic test which is recommended for atrisk couples planning on having a child this test sequences the hexi gene for mutations known to cause TX scientists are currently exploring many new and exciting Avenues in hopes of finding ways of earlier detection and treatment for this disease it has been discovered that the major defect in ashkanazi Jews with Tac disease is an insertion in the gene for Alpha chain of beta hexa this particular defect results in the absence of the enzyme hexa which is vital to our survival while knowing this isn't a cure in and of itself it gives hope that we may be able to engineer a genetic therapy where a healthy Gene could be inserted into the cell of one with tax and replace the defective copy a second treatment option that scientists are researching is through enzyme replacement therapy which would enable the patient to artificially provide the missing hexa that their body is lacking with modern day medicine testing whether you're a carrier for tax is now done with a simple blood test this means prospective parents can quickly and easily find out if they are both carriers in the case where both Partners test positive they can now safely have children through the use of assisted reproductive therapy when used in conjunction with invitro fertilization carrier positive couples may give birth to babies without the risk of TX TX is a very serious disease that does not need to continue affecting us a simple blood test can tell you whether or not you are a carrier we need to raise awareness about this disease in hopes that more couples get tested and avoid passing on the defective Gene to their children tasax is a preventable outcome we need to adapt as a society and get tested