Genetic Diseases Essay

Huntington’s is a hereditary disease. A crucial part of the diagnosis process is to take a family history. The most efficient way to determine if the individual has this disease would be a DNA determination, showing a CAG repeat of at least 36 on the huntingtin gene that is located on chromosome 4. In most cases, the three main signs of this disease is present in the individuals. More studies are known to use biomarkers to determine the parameter’s as well. More studies are starting to focus on changes

To date, over four thousand genetic diseases due to single gene defects have been discovered (“How many genetic diseases are there?”). These disorders are unavoidable because they are determined at the moment of conception. Since there are no preventative measures for such illnesses, the most doctors can do is prescribe courses of action for treatment or possible cures. Unfortunately, treatments and or cures for every disease have not been found. For example, researchers are searching for the faulty

Genetics in Huntington’s disease Imagine caring for someone with constant jerky movements, and every word he or she attempted to say came out with a slur. Something as simple as speaking is an everyday struggle for an individual with Huntington’s disease. This is just a brief description of obstacles a person may experience with Huntington’s disease. Huntington’s disease is a genetic neurodegenerative disease that causes defects in a person’s cognitive thinking, movement, and physiological stability

In the late 1900s, scientists were able to describe a rare congenital genetic disease called “1p36” for the first time. Later, in 2001, a girl named Sonia was born; two weeks after her birth, she had heart failure and her parents had to take her to the hospital due to low vital signs. That was the first time doctors noticed that there was something wrong with her. A couple of days later, they realized that not only her heart wasn’t functioning properly, but she had low muscle tone, and seizures

Introduction Genetic diseases are being discovered more often as we learn the affects that genes have on the body. McArdle’s disease is a metabolic disease that affects skeletal muscle because of a gene mutation. The genetic mutation prevents the creation of the enzyme myophosphorylase. This enzyme is responsible for the breakdown of glycogen in muscles (Haldeman-Englert, 2014). McArdle’s disease is also known as Type V Glycogen Storage Disorder. It affects approximately one out of every 100,000

In the prologue, neoplastic diseases (tumors and cancers) have the long-lasting history since the first evidence of cancers has been reportedly recognized in the bone fossil of Egyptian ancient, as the presumptive osteosarcoma (Strayer and Rubin, 2012). In the recent decade, neoplasms are incurably deleterious, formidable non-communicable diseases. A neoplasm presumably arises when a singly normal cell in a given tissue has dynamically accumulated irreversible genetic impairments and instability

Genetic Disease Diagnosis, Screening and Treatment Advocacy and Decision Making in Genetics Competencies for Contemporary Nursing Issues (GNT1) Juanita Allen Janette Barney Western Governor 's University Task 3 724.2.5-03-08 724.2.6-02-09 Mr. and Mrs. Trosack have recently been told through chorionic villus testing, that their unborn child has Tay Sachs disease.As the case manager there should be several appropriate members identified for an interdisciplinary team to obtain information

November 18, 2014 MBBB 493 Written Report The definition of a genetic disease given by medicalnet.com is “any disease that is caused by an abnormality in an individual’s genome”(Mednet, 2014). Usually, the abnormality can be caused by a small mutation in the DNA gene or an “entire set of chromosomes”. There are four different types of inheritance for genetic disease, which are: Single Gene Inheritance, Multifactorial inheritance, Chromosomal Abnormalities, and Mitochondrial Inheritance. Some

Genetics plays a large role in the medical world, specifically when dealing with disease. Some genetic diseases remain a mystery as to their specific origins, but this only highlights the importance of continued research and an accurate and complete knowledge of one’s family medical history. This paper will cover one inherited genetic disease for which there is no cure, Fatal Familial Insomnia ("Self management of Fatal Familial Insomnia. Part 1: What is FFI?", 2006, p. 65). This particular disease

There are many known genetic diseases in the world. There are different types such as chromosomal and monogenic. Chromosomal disorders are when someone has too many or not as many chromosome as they are suppose to have (46 total chromosomes). Chromosomal disorders can also manifest when there are structural abnormalities. Monogenic disorders are an inherited medical condition caused by a DNA abnormalities. These diseases occur all throughout the world today. Depending on what region of the world