Preview

Genetic Disorders: Neurofibromatosis

Good Essays
Open Document
Open Document
633 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Genetic Disorders: Neurofibromatosis
Neurofibromatosis is a genetic disorder where tumors form on the brain and any other nerve tissue such as the spinal cord, nerves or any area on or under the skin. These can form cancer and symptoms other than tumors can include learning disability, hearing loss, heart problems, vision loss, high blood pressure, muscle loss, brown spots and chronic pain. This disease can be passed on from generation to generation and is caused by a variation or mutation in the genes.
Neurofibromatosis is a non curable disease but many research dollars and working hours are being spent developing a cure. Although this disease is not able to be cured it is able to be treated and relived. Treatments include but are not limited to tumor removal surgery, Stereotactic radiosurgery (a type of surgery that uses radiation applied directly to the tumor in order to shrink it), and chemotherapy, which both are generally treated later than 2 years of age due to symptoms appearing later in life. These two treatments reduce the size or remove tumors in order to reduce the pain of them pressing on near by nerves. In some cases cochlear implants are added which can be installed slightly after 1
…show more content…
Even though blood tests are taken to biohazard containers and then sent off to be incinerated. It comes down to the fact that if people could get their hands on a medical record of someone who has had a genetic screening and that person may become biased or discriminate against that person. For example; an insurance company not offering insurance because a person has a high chance of having inherited leukemia. This simply isn’t something that should be allowed to happen and laws that require organizations to accept people even if they may have an inherited genetic disease or a higher risk for that disorder need to be created and somehow enforced. Infact people shouldn’t be allowed to view a person's information without their consent in the first

You May Also Find These Documents Helpful

  • Good Essays

    Skloot discusses this issue in her 2006 New York Times article “Taking the Least of You”. Boiled down to the core points when that piece of you is attached to you, you own it. When you know you have an important blood line or gene or bodily reaction, you own it and you can make money off of it. Otherwise, you don’t and you can’t. Once it leaves your body or you are not informed of any specific reactions or genes, you do not get a say in what happens, at least that is the stance the law takes at this point. Personally, I do not feel it should matter whether or not they take them from you, those “scraps” still have your genetic sequence, you should still have a say. Unfortunately, not very many researchers, law makers, or doctors would…

    • 1005 Words
    • 5 Pages
    Good Essays
  • Good Essays

    Risks associated with genetic testing risk of discrimination in health insurance and employment. Also, people may experience emotional, social, or financial consequences from the test results.…

    • 825 Words
    • 4 Pages
    Good Essays
  • Good Essays

    How can they handle the results confidentially and whether test results should be used to aid decisions on employment, insurance and other financial aspects. Some people can not afford to do all the testing that is required for the process.…

    • 125 Words
    • 1 Page
    Good Essays
  • Good Essays

    Tay Sachs Research Paper

    • 1245 Words
    • 5 Pages

    Genetic testing can also be performed on parents before they conceive a child to determine whether they are carriers of the disease. This would be especially important if both parents were from high-risk populations to prevent families from going through this horrible experience.…

    • 1245 Words
    • 5 Pages
    Good Essays
  • Satisfactory Essays

    There are four major approaches (surgeries) that remove these tumors, the standard workhorse is called the translabyrinthine approach. This is the standard way that most of these tumors are removed, the downside of this approach is that it's guaranteed to have complete loss of hearing in the operated ear even a hearing aid will not help rendered. The upside is that there is a slightly lower risk to causing facial paralysis [Arsiwala, 2016]. The translabyrinthine approach starts from behind the ear, a significant portion of the head is shave and the incision is made behind the ear, working through the mastoid bone then through the labyrinth (semicircular canals) which beneath that area is where the brainstem is and where these tumors sit in…

    • 175 Words
    • 1 Page
    Satisfactory Essays
  • Good Essays

    The CFTR protein is responsible for functioning as a channel for chloride ions (salt) in and out of cells. Changes in the CFTR gene can consequently change the quality and structure of the protein CFTR being created. The CFTR gene has 27 segments called exons which produce a complete mRNA message. The message is then translated into a chain amino acids which take the structure according to the message. Normally, the amino acids will produce a CFTR protein that will position in the cell membrane and function as a channel for ions. Any mutation in the gene or incorrect sequencing prohibits the channel from functioning and being positioned in the membrane adequately. Over 1,000 mutations of the CFTR gene is responsible for CF, however, the most common are due to the deletion of 3 nucleotides in the gene. The 3 nucleotides are responsible for the production of the amino acid (phenylalanine). This is denoted as ∆F508 and is found in 90% of CF…

    • 631 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Neurological disorders are diseases of the brain and the nerves. Everybody knows that the brain is the most important organ of the body. The brain is the Part of the central nervous system that is made up of the nerves which are connected to the body through the spinal cord. The human brain is responsible for all the mental and physical processes According to MedlinePlus If the brain is in a good condition it works automatically, but if problems appear brain will lose its ability to control the body system. There are several neurological disorders that can affect the brain and the most common type is Multiple Sclerosis. This essay will describe what the disease does and will explain in details the most common type of Multiple Sclerosis (MS).…

    • 502 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. 349 out of 2.37 million males aged 5-24 were reported to have DMD or BMD in the United States. This means that about 15 of every 100,000 males aged between 5-24 were affected that year. Also, a close friend of mine had muscular dystrophy so it played a role in my life. I wanted to know if it could be cured and if not was there any treatments for it. Muscular dystrophy could potentially be cured through gene therapy, but currently the disease is best treated with a steroid named Prednisone.…

    • 1466 Words
    • 6 Pages
    Good Essays
  • Good Essays

    Also how a person process's DNA samples , if they do a messy job and the ink is smeared it would not be of use in court.…

    • 884 Words
    • 3 Pages
    Good Essays
  • Good Essays

    From a patient’s perspective, people tend to see genetic information as more definitive, in the sense that 'you cannot change your genes' and that 'genes tell all about your future.’ Such genetic determinism is an oversimplification and does not take into account the nature of biologic pathways. From a provider’s perspective, genomics presents challenges with respect to ethical and professional responsibilities, including the appropriate use of genomic information in the health care setting. I believe that there should be an identification of provider education programs that increase use of appropriate screening, counseling and evidence-based genetic tests. By increasing the effectiveness of genomic testing, it will help dissolve the negative association and further increase the proportion of people who are willing to receive genetic…

    • 463 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Genetic testing, aka DNA testing, allows doctors to check if there are any possibilities to inherit diseases, and can also be used to determine a person's ancestry or biological relationship between people. It is important to understand the background and implications behind genetic testing as testing may be able to identify the odds of have of having a child with a genetic disease, but it can also result in miscarriage. The test often cannot determine if the child will show symptoms of a disease, how severe the symptoms will be, or whether the disease will progress over time. Another thing to take into consideration is the absence of treatment strategies…

    • 714 Words
    • 3 Pages
    Good Essays
  • Satisfactory Essays

    Neurofibromatosis is a genetic disorder of the nervous system that affect many parts of the body. The disorder affects the development of nerve cell tissue as well as the brain and spinal cord. Although the tumors are usually noncancerous, some can become malignant. Neurofibromatosis can range from mild to severe, which can lead to complications such as, "hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain," (Mayo Clinic). There are three types of neurofibromatosis: Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is the most common, and Schwannomatosis is the least common. Neurofibromatosis is caused by genetic mutations, either inherited…

    • 289 Words
    • 2 Pages
    Satisfactory Essays
  • Powerful Essays

    Genetic profiling is a contemporary issue relating to the individual and technology which restricts access to unbiased decisions and privacy. Genetic profiling interferes with the individuals bodily, genetic and behavioural privacy, as it can be used for the benefit of identifying bodies to using the results of a DNA test to choose whether to employ one individual over another, due to future concerns. It can easily be argued that genetic profiling is in the need of law reform as a result of legal implications and the lack of individual’s rights.…

    • 1907 Words
    • 8 Pages
    Powerful Essays
  • Good Essays

    No matter how hard a person tries, no records will ever be 100 percent safe (Thede, 2010). The United States technology is ever changing and as the U.S. progresses hopefully the security will become more efficient. The dark era is coming to end because there was no evidence of safeguarding patient records. Moreover, paper records were causing a significant increase with health insurance payouts. Compared to other countries, the U.S. is lagging behind in the health care system. It’s hard to believe that once a powerful country could lag behind a healthcare system that Americans utilize every day. Privacy is up most importance, but in order for continuity of care to be equal across all health care providers is even more important than safeguarding a particular diagnosis that one might be ashamed of having.…

    • 477 Words
    • 2 Pages
    Good Essays
  • Satisfactory Essays

    biology

    • 361 Words
    • 2 Pages

    -Genetic testing can fall into one of the five categories: carrier testing, diagnostic testing, prenatal testing, newborn screening, and predictive testing. Carrier testing is designed to determine whether a person may potentially be carrying a harmful recessive allele that could be passed on to the offspring. They are given to people who have a family history of genetic disorder or to an ethnic or racial group that is known to be at a higher risk for the disorder. Diagnostic testing can confirm or rule out an existing disorder. It helps patients get suitable medical care and guides them to making important decisions. Prenatal testing is a test that checks for genetic disorders in unborn babies. New born screening catches inherited disorders right after birth, which allows infants to receive immediate medical attention. Predictive testing is for people who have a family history of a genetic disorder but has no symptoms. It determines a person’s risk for developing that disease in the future. Patients seeking genetic testing should receive counseling before and after to clarify family history, explain the test and to cope with the results. People who risk having a genetic disease may also avoid testing in fear of being denied health insurance or being shunned by family and friends.…

    • 361 Words
    • 2 Pages
    Satisfactory Essays