Tay Sachs Disease Research Paper

The cell is the basic unit of life in eukaryotic organisms. The inside of the cell is comprised of multiple subunits called organelle that all function together to maintain homeostasis and function. Each individual organelle is assigned a specific task and purpose for the cell. These tasks and purposes can range from structural support all the way to the disposal of malfunctioning organelle.1 Similarity to a machine, if one part stops functioning to full potential, serious if not fatal consequences can be faced. A shining example of the effects of a malfunctioning organelle occurs in Tay-Sachs disease. Tay- Sachs disease is a lysosomal disorder that is caused by a faulty lysosome.1 Recent studies and research have been investigating the causes and pathways Tay-Sachs disease with great success, which is amazing news for the scientific community.

There are no treatments or cures for Tay-Sachs disease; however, through palliative care,  treatment is used to keep the child comfortable. Palliative care often includes prescription medication to relieve symptoms, the use of feeding tubes, physical therapy, and respiratory care to avoid issues with the lungs and airways.

Cherry red spot” in the eyes Infant with Tay Sachs Disease If two parents are carriers for

Tay-Sachs is a disease caused by a mutation to the gene which codes for Hex A. Without Hex A, a cell cannot degrade GM2 ganglioside into GM3 ganglioside. This results in a build up of ganglioside’s in lysosomes of neurons. The result is varying degrees of mental deterioration. New DNA-based screening is currently being developed to replace the enzyme-based screening techniques that have been used since 1969. This will not only speed up the diagnosis, but also allow for earlier detection of Tay-Sachs by using the parents genotypes.

Warren Tay who was a British ophthalmologist physician, he noticed a cherry red spot in the retina of a one year old child who was suffering from mental and physical retardation. Bernard Sachs who was an American neurologist noticed an extreme swelling of neurons in autopsy tissue from affected children. He also founded that the disease comes from the families who is Jewish origin. Both physicians were describing the same disease, but it was not until the 1930s that the material causing the cherry-red spot and neuronal swelling was identified as a ganglioside lipid and the disease could be recognized as an "inborn error of metabolism." The term "ganglioside" was coined because of the high abundance of the brain lipid in normal ganglion cells

There are many diseases in the world that can have severe negative impacts on a person and their family. Many neurodegenerative diseases are caused by genetic mutations. This essay will be discussing the similarities and differences between the diseases of Tay-Sachs, Alzheimer’s, Parkinson’s and Fragile X as well as their symptoms, treatments and intervention strategy’s.

Tay-Sachs disease is a rare genetic disorder that destroys the nerves of the brain and spinal cord (the neurons). Tay-Sachs is usually discovered during infancy, the child appears to be on track and developing normal until the first signs of symptoms become apparent. The children typically do not live past the age of 5 due to many symptoms of the disorder/disease. However there have been individuals with Adult Tay-Sachs Disease (ATSD) and Late Onset Tay-Sachs disease (LOTS) in which they develop mild symptoms later on and worsen throughout the years. The symptoms include: loss of motor skills or muscle movement, vision and hearing loss, intellectual disabilities and dementia, and even can cause paralysis. The most common way to notice a child

"Children with Tac-Sachs disease often die by 4 despite the provision of best available care. Their seizures worsen, and eventually fall into an unresponsive vegetative state.

Tay-Sachs disease, (also known as GM2 gangliosidosis or hexosaminidase A deficiency), is a fatal autosomal recessive genetic disorder caused by insufficient activity of the enzyme beta-hexosaminidase A. It is very rare, found more prevalently among certain populations, like those with Eastern European, (Ashkenazi Jewish) heritage (Bethesda, 2014), and usually results in death by the age of four. The purpose of this essay is to illustrate the pathology and inheritance patterns of this genetic disorder, and provide the molecular base, prognosis, and possible treatments.

Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and swallowing problems, coloboma of the eyelids, wide mouth which gives limited mouth opening, dry eye syndrome (causes infections) and downward sloping eyes. Persons with this disease can be born blind, deaf, suffer from depression and/or are unable to

In conclusion, Tay Sachs Disease is an auto recessive disorder that can only be inherited by a child if both of their parents are carriers of the trait. The likelihood of a pregnancy resulting in an affected child is one in four. In addition to how the gene is transferred via parents, there has also been research concluding that there is a correlation among those carrying the gene or affected by the gene and their ancestry. TSD is considered to be a Jewish disease due to the high number of incidences of TSD occurring in the Jewish

Tay Sachs Disease is an inherited disease that results in slow destruction of the central nervous system and sensory systems, which is caused by a mutation resulting in a deficiency of a lysosomal enzyme. The missing enzyme, hexosaminidase A, functions in breaking down the fatty material ganglioside GM2, a chemical found in nerve tissue. Without this enzyme, lipids accumulate in the brain cells and destroy them, resulting in damaged nerve cells, neurological problems, and eventually leading to death several years after birth. The disease was first discovered by Waren Tay, a British ophthalmologist in 1881. Tay-Sachs disease is very rare in the general population and is relatively common among certain ethnic groups such as Eastern Europeans

You married someone who doesn’t have the disease, but they are recessive. Would you still have children? The possibility of your children getting this disease is a 50-50 chance. It brings a lot of thought to your mind right? The disease I am talking about is Huntington’s disease. This disease causes, clumping in the brain and causes the death of nearby nerve cells. A brain area responsible for coordinating movement, and of the cortex, which controls thought, perception and memory, are most often affected.

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

The members will be a physician, a geneticist, an ethicist, a lawyer and a nurse. The physician, who is a pediatrician, makes the diagnosis of Tay Sachs. The geneticist, another specialist, provides more specific and applicable information on Tay-Sachs, such as causes and risks, prevention, diagnosis and treatment. These two specialists formulate a plan of care, which a nurse will implement. The ethicist informs them about accepted moral values and the proper human conduct, behavior and decisions in dealing with Tay-Sachs. The lawyer or legal practitioner informs the involved parties about the current laws and court decisions concerning or affecting the management of genetic disorders, such as Tay-Sachs. And the nurse carries out the detailed instructions of the geneticist and pediatrician as well as incorporates the guidelines inputted by the lawyer.