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Tay-Sachs Disease Research Papers

Tay-Sachs disease is a serious hereditary disorder that often effects very specific populations. A research paper on Tay-Sachs offers an overview of this disease, including its cause, course, symptoms, diagnostic and screening tests, treatments, and results of studies. In addition, it will look closely at the populations who seem to be at highest risk for Tay-Sachs disease. This discussion will demonstrate the following:

  1. The nature of this disease offers many opportunities for screening high-risk couples who may have Tay-Sach's infants, but creates several ethical problems, as well.
  2. The benefits of screening high-risk populations for Tay-Sachs and saving children from this disease outweighs the ethical concerns.
  3. Screening is the most ethical means of preventing this horrible disease.

The disease was first described by Dr. Warren Tay, an English physician, in 1881, and later by Dr. Bernard Sachs, a neurologist at Mt. Sinai Hospital in New York City in 1887 and more definitively in 1896 . Over the next 80 years, Tay Sach's disease became recognized as a rare and recurring genetic disorder characterized by a missing enzyme, which resulted in the accumulation of a fatty substance in the nervous system . This fatty substance, called gangliosides, are necessary for the proper development of brain and nerve cells. In a healthy person, gangliosides are broken down to maintain a balance that encourages the development of cells in the brain and nervous system. In Tay-Sachs disease, hexosaminidase A, the enzyme necessary for removing excess gangliosides is missing. This defect is known as a lysosomal storage disorder because it can be traced to a lysomal enzyme . Missing or defective enzymes cause the accumulation of lipids, or fatty substances, which allows gangliosides to accumulate throughout the brain. The imbalance that results from this accumulation is responsible for improper development of brain and nerve cells. According to McCance and Heuther, the disease causes neurons throughout the body to contain changes in cytoplasm, and in time neurons are lost, and swollen microglial cells proliferate.

As mentioned above, Ty-Sach's is a genetic disorder, which means that the inability to produce hexosaminidase A, described above, is caused by a defective gene that is passed from parents to child. This is a recessive genetic disorder, so a child must receive the defective gene from both the mother and the father to actually contract the disease. People who have only one defective gene and one normal gene are called carriers. They carry the defective gene and thus the possibility of passing the gene and/or the disease on to their offspring.

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