Tay-Sachs disease (TSD) is a rare inherited and progressive disorder caused by the absence of beta-hexosaminidase (HexA). This missing enzyme, which has a role in helping to break down fatty acid derivatives, causes cells to become damaged, leading to progressive deterioration of the nervous system. In the general population, the incidence of carriers as heterozygotes is about 1 in 300.

TSD appears with three different forms but its common variant is acute infantile, which begins around six months of age and has a rare survival beyond 5 years old. TSD is a life threatening disease leading to severe complications for the patients, such as loss of motor skills, seizures, visual problems and speech disturbances. A cure for Tay-Sachs does not yet exist, the outcome depends on the severity of underlying condition prognosis but there is research underway to help improve the quality of life in addition to extending the individual’s life expectancy.

The Epiomic™ Database is invaluable in understanding both the diagnostic measures of TSD and the number of co-morbidities associated with the illness. Furthermore, in order to present a complete picture of the disease, TSD variants and genotypes have been broken down into a number of useful sub populations.

Quick Fact

Did you know ... Predilection of TSD in the Ashkenazi Jewish population has led to widespread carrier testing and prevention through prenatal diagnosis, which decreased the disease incidence in the Jewish population by more than 90% in the last three decades.