Genetic Disorder Project

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.

Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).

The BLS states that the employment outlook for the genetics counseling field is quite promising. They project it to grow at 29 percent until the year 2024, which is much faster than average. Keep reading to learn why the employment outlook for this exciting medical field is so good.

When attempting to improve on the efficiency of diagnoses and treatments of copper transport disorders, it was found that patients with Wilson’s disease develop hepatocellular carcinoma even though they are receiving

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

Wilson’s disease is named for a British physician named Samuel Alexander Wilson, who as a neurologist found pathological changes in the brain that actually stemmed from problems with the liver. Later, neuropathologist John Cummings looked into the causes of the disease as well. What he found was that the cause was linked to copper, or more precisely too much copper building up in the body.

Even as a young girl, I have always been fascinated with how the world works and the gears that make everything flow in perfect harmony. Because of this, I have taken 7 credits worth of science courses during my high school years and have also participated in many extracurricular activities in the name of science. Other than science, history (specifically ancient and medieval) and music have been interesting academic subjects to my brain and heart. I enjoy lectures and learning about how the world has developed, both scientifically and socially. Due to specific events I have experienced throughout my life, my career goal is to become a geneticist to better understand genetic disorders and how I could possibly treat them. The anatomy and internal

A family health nurse is responsible to be a reliable resource when helping clients understand illnesses that are passed down within their family and when conducting genetic counseling (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). In this discussion, I will consider a scenario where I am a family health nurse meeting with a married couple who are both carriers for the genetic disorder of cystic fibrosis. I will review what a genetic counseling session provides, how I took a detailed family history to assess and analyze the potential genetic problems they would have with their offspring, if I would recommend genetic testing for the couple before they have children and if I could facilitate the testing, and discuss some advantages and

What is Wilson‘s diseases? Wilson’s disease also known as a term called hepatolenticular is basically a genetic disorder and causes copper to start accumulate in the liver, brain and other vital organs. This accumulation then causes various troubles and problems related to the organs. Copper is an essential metal for our body and it plays a key role in the development of healthy nerves, bones, and collagen.

A genetic disorder is an illness that is caused by one or multiple abnormalities in the genome. Genetic disorders are not unusual, however when a genetic disorder occurs it usually happens in one and every thousand or million persons. Sometimes genetic disorders can or cannot be heritable, meaning passed down from the parents to their offspring. Often times the parents are unaware that they can carry over a genetic disorder to their offspring. When genetic disorders that does not occur from the parent, it can mean that the cause for the genetic disorder is caused by a new mutation or changes in the DNA. Most cellular structures consist of proteins that carry out to work and to perform life functions. When a gene is disrupted in a way that the proteins no longer carry out a normal function, a disorder can occur.

So, even if you didn’t recognize the disease as genetic, you’ve certainly run into someone with a far reaching genetic disorder. A disorder that left them borderline unable to function, perhaps a disorder that left their ability to think or remember things severely limited, a disorder that hindered them in all aspects of their lives, or even a disorder that lead to such frailty, that they could die within the next ten years. Everyone has seen someone like this, whether family or not, now should they be able to have a chance to spread their disorder further, through having children? Using common sense, and various government websites detailing the multitude of genetic disorders and how easily and randomly they can be inherited, anyone can come to the quick conclusion that they shouldn’t be able to. Now, this view that people with debilitating genetic disorders shouldn’t be able to reproduce comes not out of a place of hatred, but truly and honestly out of sympathy. People with such awful disorders shouldn’t be allowed to have children.

Wilson's disease also called hepatolenticular degeneration is a rare recessive genetic disorder in which copper builds up in the human tissues. but occasionally a liver transplant is required.the wilson disease is in the (ATP7B) gene. 1 in 100 people have only one of the gene from one of their parents which is harmless since it’s not dominant (they are carriers). although if a child gets the gene from both parents he/she will have the Wilson's disease.The effect can be see between the ages of 6 and 20 years, Wilson's disease take place in 1 to 4 per 100,000 people. It is named after Samuel Alexander Kinnier Wilson who is a British neurologist who first described the condition in

Nature and nurture are interchangeable in the way they manifest themselves in the human mind. We are products of our environment, and we all have the same genetic make-up. But what happens when someone is born with an abnormality, or when our environment influences our gene expressions during our life-span? One of the ways abnormalities can be seen is by taking a look at disorders. In this case, a psychotic disorder. Schizophrenia grasps my attention because it is the consequence of our psychosocial environment, brain abnormalities, and it can have genetic or prenatal contributions as well. Therefore, making it endlessly difficult to jump to conclusions about why one person might be diagnosed with it during their lifetime.

This article talks about Wilson's disease and the effects it may have on the eye. Wilson's disease is a disease that creates to much copper in the liver causing it to be a problem. This over abundance of copper then causes the eye's pigment to change. The change is correlating to the abundance of copper. It says that the less pigment you have the more likely your able to get other diseases. That with less pigmentation in your eyes the more likely the suns harmful rays can cause Melanoma and other diseases.

There are four different types of genetic disorders: single gene mutations, chromosome mutations, multifactorial, and mitochondria. Single gene mutation, also known as Mendelian disorder, is an abnormality in the DNA of a gene, and is divided into three categories, dominant, recessive, and X-linked. Chromosomal mutation is a result of extra or lack of a certain number of chromosomes, or an irregular structure of a chromosome. Multifactorial disorder is caused by multiple genes that are combined with environmental and by the lifestyle of that particular person. Mitochondrial disorders are caused by mutations in the DNA of mitochondria, that affects mitochondria function. Although the four types of genetic disorders all affect the human body