Use the below as to what is needed to be explained in the paper.
Explain Tay-Sachs disease. Imagine you are a genetic counselor working with a couple who have just had a child who is suffering from Tay-Sachs disease. Neither parent has been tested for Tay-Sachs disease nor have there been any previous cases of Tay-Sachs in either family. Explain Tay-Sachs disease and provide a discussion of the information you would share with the couple about Tay-Sachs and possible implications for future children.
Your assignment should be 250-500 words in length.
Tay-Sachs disease is an inherited disorder which destroys the nerve cells progressively in the spinal cord and the brain (Santiago-Blay, 1997). During the early stages of a child, the most common type of Tay-Sachs disease becomes obvious. Normally, infants with such a disease show signs when they attain an age of between 3 to 6 months. At that stage, they experience a slow growth and muscles responsible for movement deteriorate. Infants with such an infection are unable to develop their motor skills that include: sitting, crawling and turning over. Also, they develop an inflated disconcert reaction towards loud noise (Santiago-Blay, 1997). Children affected by Tay-Sachs disease experience loss of hearing and vision, seizures, paralysis, and intellectual disability when the disease progresses (Santiago-Blay, 1997). Another characteristic disorder of the disease is an abnormality in the eye known as cherry-red spot which can only be identified through an examination of the eye.
The cause of Tay-Sachs disease is a mutation that occurs in the HEXA gene (Gason, Sheffield, Bankier, Aitken, Metcalfe, Barlow Stewart, & Delatycki, 2003). Mutation in the genes is a permanent change of the sequence of the DNA that forms up the gene. It results to most of the processes in the body to fail working. A HEXA gene that is mutated causes the body to stop the production of an enzyme known as Hexosaminidase-A (Hex-A). Lack of this enzyme in the body results to the formation of GM2 ganglioside, a fatty substance in the brain cells and nerves and causes them to stop working properly, finally destroying them (Gason, Sheffield, Bankier, Aitken, Metcalfe, Barlow Stewart, & Delatycki, 2003).
For children to be at risk of the Tay-Sachs disease, both parents have to be carriers of a HEXA mutation. There are grater chances of a child developing such a condition if both parents are carriers.
Gason, A., Sheffield, E., Bankier, A., Aitken, M., Metcalfe, S., Barlow Stewart, K., & Delatycki, M. (2003). Evaluation of a Tay-Sachs Disease screening program. Clinical Genetics, 63(5), 386-392. http://dx.doi.org/10.1034/j.1399-0004.2003.00074.x
Santiago-Blay, J. (1997). Biology! Bringing Science to Life John H. Postlethwait Janet L. Hopson Ruth C. Veres. The American Biology Teacher, 59(4), 252-253. http://dx.doi.org/10.2307/4450300