Tay-Sachs Disease Essay

Tay Sach’s Disease The body is a very diverse and complex system. Tay-Sachs disease can be a very scary but rare illness. Tay-Sach’s is a genetic disease which causes destruction to vital body systems, such as the brain and spinal cord. The invisible disease at first, begins within the fetus at early stages of pregnancy. Up until the age of 6 months, this death causing disease is imperceptible. A simple definition of Tay-Sachs disease is the malfunction of the lysosomes (organelle that removes

Tay-Sachs Abstract 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

Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms. These symptoms are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic disease.(“Health and Wellness Resource center

body. Various pathways that help build, store and breakdown the different lipids are regulated through enzymatic activity. When these enzymes are altered or deficient, various problems can develop and lead to serious diseases. Lysosomal Storage Diseases are one of the main disease states associated with lipid storage malfunctions, as there are various enzymes that are involved in lysosomal degradation pathway.1 In this specific pathway, the loss of function through mutation or

had a thalassemia gene, and if they gave birth to a child, the child was likely to die because of severe thalassemia. Although they want to have a child belonging to themselves, they finally chose to adopt a child. Thalassemia is a common genetic disease in my province, the local government calls on all couples to accept genetic screening before pregnancy to avoid newborns with severe thalassemia and avoid the original burden on the whole society and individuals families. Genetic screening is a major

Sandhoff disease is a severe form of Tay-Sachs disease but Sandhoff disease is not limited to any ethnic group. Onset of the disorder usually occurs at six months of age, infant’s present normal for the first three to six months of life. Neurological symptoms may include progressive nervous system deterioration, problems initiating and controlling muscles and movement, increased startle reaction to sound, early blindness, seizures, spasticity, and myoclonus.3 Other symptoms may include macrocephaly

usually discarded, while other objections concern the selection itself. There are many people who are against the use of PGD due to their view of the embryo or fetus as a person and will object destroying embryos. Using PGD for preventing genetic diseases can be seen as a benefit to many people. The differing viewpoints of this topic explain why the use of PGD is a socio-scientific issue. PGD is increasingly available for low prognosis IVF patients and for single gene mutations that

Diagnosis Karen and Roger have decided to start a family. Again. It has been nearly six years since their first and only child, Katie, was born, and just over two years since she died. In her four years of life, Katie was plagued with the fatal Tay-sachs disease. Because the enzyme needed to rid her brain of fatty materials was absent at birth, she lost her sight when she was only eighteen months old. Her ability to operate the left side of her body was gone several months later. Understandably,

PGD was mainly designed to allow couples with the risk of passing on a dangerous genetic diseases to have children that wouldn't be affected by it. It’s been used since 1990 to prevent children from being born with Down’s syndrome, Tay-Sachs disease, cystic fibrosis, sickle cell, and Huntington’s disease. It is now being used to also create “savior siblings”, which are children who are able to donate bone marrow and other tissues to their sick

of eugenics is to racially cleanse and create a population with pure blood excluding the tainted blood of the unfit. Eugenics according to Calum MacKellar and Christopher Betchel, “is a general enhancement of humanity.” Dorthy Porter in Darwinian Disease Archaeology states, “Eugenics is the study of human hereditary in order to manipulate human breeding to influence evolutionary ‘progress.’” Although there are advantages to eugenics, there are numerous more negatives. Eugenics can not only cause a