Causes Of Tay-Sachs: Genetic Disorders

Good Essays

Open Document

Open Document

View Writing Issues

402 Words

Grammar

Grammar

Plagiarism

Plagiarism

Writing

Writing

Score

Score

Causes Of Tay-Sachs: Genetic Disorders

Tay-Sachs is a rare genetic disorder that slowly destroys nerve cells in the brain and spinal cord and this disease effects millions of people (Tay-Sachs GHR). Tay-Sachs can’t be spread as it’s a genetic disorder. It is caused by a genetic mutation in the HEXA genes (Tay-Sachs GHR). People who have Tay-Sachs have problems with the enzyme called beta hexosamidase A and this enzyme is supposed to clean up the buildup of the molecule called GM2 ganglioside within cells but if it doesn’t it leads to toxicity (Tay-Sachs GHR). Tay-Sachs symptoms usually show up when the patient is 3 to 6 months of age and there are symptoms such as slow muscle development, slow movement, lost motor skills and some are sensitive to loud sounds (Tay-Sachs GHR). If the disease gets worse the …show more content…
Tay-Sachs has fallen 90 percent among Jews because of scientific researches (How the Jews). Scientists now do mass screenings to check if someone has Tay-Sachs or not. Doctors have detected Tay-Sachs by using mass screenings on Tay-Sachs carriers who wanted to have a kid, because of that the couples had their babies in another other way so their babies would be healthy (How the Jews). Scientific progress now lets couples to take a screening at their house to see if they are Tay-Sachs carriers or not and the screenings alone has helped thousands of people.

I would be devastated if my child had Tay-Sachs as I would have already known that he or she was going to die when he gets to five and couldn’t even have lived his life. There is no cure so it’s a lost cause too. Emory University now offers genetic counseling that help the child and the parents to go through the problems and that may comfort them a little bit. Families try to stay strong and try to be positive when their child is diagnosed with Tay-Sachs. DJ’s parents tried to be as positive they could be and tried to support their child and comfort him (Welcome

Continue Reading

You May Also Find These Documents Helpful

Good Essays
Tay Sachs Research Paper
- 611 Words
- 3 Pages
Tay Sachs Research Paper

Tay-Sachs disease is caused by the absence or insufficient level of a vital enzyme called Hexosaminidase A (Hex-A). Without Hex-A, a fatty substance or lipid called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation, also called “substrate,” causes progressive damage to the cells. In Classic Infantile the destructive process begins in the fetus early in pregnancy, although the disease is not clinically apparent (symptoms do not start) until the child is several months old. By the time a…
- 611 Words
- 3 Pages
Good Essays

Read More
Good Essays
How Does Zika Cause Death
- 74 Words
- 1 Page
How Does Zika Cause Death

The virus has been linked to microcephaly, a condition in newborns marked by abnormally small heads and brains that have not developed properly. It also has been associated with Guillain-Barre syndrome, a rare disorder in which the body's immune system attacks part of the nervous system.…
- 74 Words
- 1 Page
Good Essays

Read More
Satisfactory Essays
Guillain Barre Syndrome
- 586 Words
- 2 Pages
Guillain Barre Syndrome

Guillain-Barre syndrome is a rare disorder in which your body's immune system attacks your nerves. Instead of your immune system fighting of illnesses, it attacks the myelin sheath surrounding the nerves. The myelin sheath is destroyed, and the damage prevents the nerves from transmitting signal to the brain. It spreads very quickly and is considered a medical emergency in its most severe form. The syndrome usually begins with weakness and tingling in the lower extremities; feet and legs. It is an aggressive syndrome and quickly moves its way up the trunk to upper body and arms. In very rare cases, first symptoms are noticed in the face and arms. Guillain-Barre disease can be difficult to diagnose early on because the signs and symptoms are similar to other neurological diseases and vary from person to person. Most people with the condition require hospitalization to receive treatment, and at worst, the syndrome goes from weakness to paralysis.…
- 586 Words
- 2 Pages
Satisfactory Essays

Read More
Satisfactory Essays
Tay-Sachs Disease
- 571 Words
- 3 Pages
Tay-Sachs Disease

In children with Tay-Sachs disease, a faulty gene on chromosome 15 (HexA) causes the body to not produce the enzyme B-Hexosaminidase A. This means that the fatty substance (ganglioside) builds up in the brain and spinal cord, significantly damaging brain cells and therefore resulting in death.…
- 571 Words
- 3 Pages
Satisfactory Essays

Read More
Good Essays
Causes Of Tay-Sachs Disease
- 974 Words
- 4 Pages
Causes Of Tay-Sachs Disease

All the carriers were of Ashkenazi Jewish ancestry. This indicated a carrier frequency of 1 in every 51 students, similar to that observed in several Jewish populations. The carrier frequency was separated by state, and found 7 carriers among 258 participants in São Paulo and 1 carrier among 146 participants in Rio de Janeiro. The estimated carrier frequency for Tay-Sachs disease is 1 in 33 (8/263), similar to that observed in other Ashkenazi Jewish populations. During the study, three carriers contacted the lab for re-testing and additional counseling. The mother of a carrier was also identified as a carrier, and the carrier frequency between the two cities was not significant. Based on the data, this shows how unaware the Jewish people of Brazil were to the importance of getting screened. The data was so significant that a few people even felt the need to continue to get even more tests done.…
- 974 Words
- 4 Pages
Good Essays

Read More
Satisfactory Essays
Columbian Exchange Research Paper
- 506 Words
- 3 Pages
Columbian Exchange Research Paper

This which led to the influence of our modern world. Unlike centuries ago where they don’t have the resources and technology like us, it was hard to cure and identify the types of diseases. Now that our modern days have it, it’s much easier to cure all types of disease whether it is deadly or not. Moreover nowadays we have more Medicine that is available for everyone now and technology that helps us create new ways of cure diseases. There are now major such as Medical & Technology for people who are interested in testing results of blood or bodily…
- 506 Words
- 3 Pages
Satisfactory Essays

Read More
Good Essays
Yo Holla Monologue
- 486 Words
- 2 Pages
Yo Holla Monologue

At the time, my family and I felt devastated; we were ill informed about the disease and as the youngest, I felt more lost and terrified than anyone about what would happen. Yet, I could only stare with awe at my mother who remained level-headed and even curious about the disease that she would share her…
- 486 Words
- 2 Pages
Good Essays

Read More
Satisfactory Essays
Description Of Krabbe Disease
- 382 Words
- 2 Pages
Description Of Krabbe Disease

Krabbe disease is a disorder inherited from parents, which destroys the myelin coat of nerve cells throughout the nervous system and the process is called demyelination. Demyelination inhibits the transmission of nerve impulses and that hinders the communication of the brain and the body and that results in disability (Mayo Foundation for Medical Education and Research, 2016). Dr. Knud. H.Krabbe diagnosed this disorder in 1916 (Arizona Board of Regents, 2015). Krabbe disease is a body recessive disorder that results from lack of enzyme galactorebrosidase or simply GALC, which is necessary to break down and metabolize toxic substances in nerve tissues (YouTube, 2016). A lack in GALC results in toxic built-up for example psychosine which is a destructive toxin that accumulates in the brain, as it begins to build-up in the nerve tissue it destroys the myelin sheath which covers the nerves (YouTube, 20160.…
- 382 Words
- 2 Pages
Satisfactory Essays

Read More
Powerful Essays
Analyzing Susan Blackmore's 'Strange Creatures'
- 1164 Words
- 5 Pages
Analyzing Susan Blackmore's 'Strange Creatures'

As in other cases, different species will disown their young if they have an imperfection and leave them out to care for themselves at a vulnerable age. For humans, children with Down syndrome or other cruel diseases are cared for just as much, possibly more than regular humans. My high school class was roughly four hundred kids, and about thirty of them were kids with some sort of disease or other imperfection. They were looked after by the faculty and the students alike. We understand the imperfections people can have and adapt to those problems and make it easier for them to have a full life. As humans, we have a deeper understanding and higher intelligence that maybe, in certain occasions these "special" people may be "extraordinary". Even though if those select few do not become "extraordinary", we understand that they have the same rights to life as the rest of us, we just need to help them along a little more. Cures and treatments are continually being attempted to help what seems to be incurable diseases; creating these cures and medicines is something that only humans have the ability to do. There are though, other imperfections we can change about ourselves and that is exactly what makes us human. The final example is at the beginning of Slater's article. The man named Sweeny was attacked by cancer and his face was corroded until he would have been viewed in society as a "monster".…
- 1164 Words
- 5 Pages
Powerful Essays

Read More
Good Essays
Assess the Role of Effective Communication and Interpersonal Interaction to Assist You with Complex, Difficult and Sensitive Issues Which You Will Come Across in Health Care.
- 1058 Words
- 5 Pages
Assess the Role of Effective Communication and Interpersonal Interaction to Assist You with Complex, Difficult and Sensitive Issues Which You Will Come Across in Health Care.

When children are affected by terminal illnesses it is heartbreaking for all involved. A child dying disturbs some of our deepest conventions: Children are symbols of future potential and hope. Therefore their deaths cause us to mourn more deeply than we would for others.…
- 1058 Words
- 5 Pages
Good Essays

Read More
Better Essays
Cystic Fibrosis Personal Impact
- 1477 Words
- 6 Pages
Cystic Fibrosis Personal Impact

Spending a lot of their time in the hospital setting, they decided to make the most of it. Their parents raised them to look at their disease as an opportunity and a challenge. The twins were determined to beat the odds. And beat the odds they did. Isabel and Anabel grew up with a very strong support group. Their parents were always their for them and exposed them to other kids their age struggling with Cystic Fibrosis. They talked about going to camps every summer that were specifically for kids with Cystic Fibrosis. Throughout the years, the twins have met many doctors and nurses who have helped educate and motivate them through this challenging journey. Having this illness has really opened their eyes to the fact that they still have healthy minds, to not take advantage of the time they have on this earth, and that they are more than their bodies. Accepting and letting go of the fact that they have Cystic Fibrosis and will have it forever was the first step to a motivated and positive mindset. The twins strongly believe that they can do anything they set their minds…
- 1477 Words
- 6 Pages
Better Essays

Read More
Powerful Essays
Compare and Contrast Essay: Tay-Sachs, Alzheimer’s, Parkinson’s and Fragile X Syndrome
- 5610 Words
- 23 Pages
Compare and Contrast Essay: Tay-Sachs, Alzheimer’s, Parkinson’s and Fragile X Syndrome

Currently there is no treatment for Tay Sachs disease. However there are ways to make the patient comfortable. There are also support groups for…
- 5610 Words
- 23 Pages
Powerful Essays

Read More
Better Essays
Essay On Huntington's Disease
- 973 Words
- 4 Pages
Essay On Huntington's Disease

Some patients may experience unintentional jerking or wriggling movements (chorea), muscle problems, such as inflexibility or muscle contractions (dystonia), Slow or irregular eye movements, disabled stride, posture and balance, difficulty with speech or swallowing, feelings of irritability, sadness or apathy, social withdrawal, insomnia, tiredness and loss of energy, or frequent thoughts of suicide, and death related ideas. Due to these symptoms the social consequences of Huntington’s disease can be disastrous. Humans with this condition will slur their words to the point of total mispronunciation and have a chance of completely losing their speech. The decision making process is altered and people in the later stages of the disease have hard time concentrating on memorization. Also the the affected patients might do out of the ordinary behavior, and say things without thinking. Other symptoms can be aggression, apathy, depression, and denial(7). Patients with the disease can have children, but take the risk for passing on the genes to their offspring(10). The disease itself is not fatal, but the complications related to it can shorten the lifespan of the people affected. Heart failure and pneumonia are two common complications of the disease. Many people develop symptoms in their 30’s to 50’s and usually live from 10 - 20 years after…
- 973 Words
- 4 Pages
Better Essays

Read More
Good Essays
Stereotypes Of People With Disabilities
- 575 Words
- 3 Pages
Stereotypes Of People With Disabilities

In an article, written by Dr. Ken Moses, he decides to focus on the perspective of the parents who care for a disabled child. The way he displays these mindsets is quite negative and helps confirm the stereotypes that disabled people are not fully functioning humans and that they are baggage to those who care for them. Moses claims that parents who have an impaired child they will grieve because they have to separate with dreams that were shattered due to the…
- 575 Words
- 3 Pages
Good Essays

Read More
Good Essays
Treatment of Tb
- 960 Words
- 4 Pages
Treatment of Tb

Tuberculosis, they say, is a disease of the poor and truly it is a disease that puts us high above other nations in the world. We are currently among the 22nd high TB burdened countries and are under the WHO TB watch list. Tuberculosis is such a problem for us. Imagine, 75 of our fellowmen die each day because of TB. Tuberculosis, however, is not a terminal disease. Before, people thought once you have TB you’ll just die not cured with the disease. But now, it is actually very curable.…
- 960 Words
- 4 Pages
Good Essays

Read More

Related Topics