Definition Of A Genetic Disease - 2946 Words

November 18, 2014 MBBB 493 Written Report The definition of a genetic disease given by medicalnet.com is â€Å"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 â€Å"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 examples of the single gene inheritance would include cystic fibrosis, sickle cell anemia, and Huntington’s disease all of which mutations have occurred in a single gene in the DNA. â€Å"Cystic Fibrosis affects cells that produce mucus and digestive juices which in result turns these cells into thick cells which clog up air pathways in the lungs and pancreas† (MayoClinic, 2012). Currently, there is no cure for CF but there are treatments given to patients that improve their health. â€Å"Mo st patients with CF carry the F508del CFTR mutation, which causes defective CFTR protein folding and processing in the endoplasmic reticulum, resulting in minimal amounts of CFTR at the cell surface† (Pubmed, 2011). One way to treat the F508 mutation is to fix it with small molecules such as using VX-809, which is the corrector to treat cystic fibrosis. â€Å"In cultured human bronchial epithelial cells isolated from patients with CF homozygous for F508del, VX-809 improved F508del-CFTR processing in theShow MoreRelatedEssay about Genetics: The Concept of Epistasis1024 Words   |  5 Pagesvarious human diseases (Nagel 2005). An example of such human disease is the Alzheimer’s Disease (AD), a severe disease causing brain degeneration, strongly affecting memory. Recently, the focus on the study of epistasis has been enhanced as it has been acknowledged that the study of gene interaction is crucial for further understanding complex diseases. The concept of Epistasis There are two major definitions aiming to explain the concept of epistasis: William Batesons’ definition (1909) of compositionalRead MoreGenetic Markers : A Genetic Marker1641 Words   |  7 Pagesunattainable without genetic markers. In everyone there are certain markers that can allow a geneticist to determine a person’s medical future, certain medicines work with some genetic markers and not with others. Many genes are linked to certain diseases and allow a geneticist to possibly prevent diseases. A genetic marker is a DNA sequence with a known specific location on the chromosome, they can be a great indicator for genetic disorders and any other hereditary diseases. Genetic markers are alsoRead MoreMedical Journal Article: Addictions as Real Physical Disease1838 Words   |  7 PagesCharlie Van Houten HIS 240 Spring 2012 The definition of what constitutes a real disease is not as clear cut as one might think. One major area of concern has been the debate between those that believe that the conceptualization of a disease should be free from social influences/values versus those that state that the criteria use to define a disease, especially psychiatric disease like addiction, are a result of social definitions/values (e.g., Szasz, 2008). In general, most health professionalsRead MoreAlcoholism Addiction And An Addiction Essay1356 Words   |  6 Pagesalcohol. There are some organizations and people out there that would combat that widely accepted thought, and consider it a disease over an addiction. What is the difference between a disease and an addiction? 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Many people have heard of arthritis, but don’t know exactlyRead More Race: An Evaluation of Science Against Society Essay1088 Words   |  5 Pagesissue of incorrect usage, a new biological approach becomes more than appropriate. Genotype rather than phenotypic information ought to define race. In doing so, perhaps, the term race will better society by focusing on creating medicine based on genetic information to better treat each patient. The new scientific usage of race will be the only relevant use in our society. Biology contains the solution in which one can be saved from the social construction of race. The problem of race lies inRead MoreEssay On Being Cautious About Cancer758 Words   |  4 Pages Introduction Disease is defined as a disordered or incorrectly functioning organ, part, structure, or system of the body resulting from the effect of genetic or developmental errors, infection, poisons, nutritional deficiency or imbalance, toxicity, or unfavorable environmental factors; illness; sickness; ailment. Simplified, disease is when something goes wrong with the body of an organism due to either a genetic, or external situation. When it comes to disease, genetics is one of the mostRead MoreHuman Genetic Engineering is Morally Justified Essay811 Words   |  4 PagesAffirmative—Human Genetic Engineering is Morally Justified When they are finally attempted†¦genetic manipulations will†¦be done to change a death sentence into a life verdict. In agreeing with this quote by James D. Watson, director of the Human Genome Project, I affirm today’s resolution, Human genetic engineering is morally justified. I will now present a few definitions. Human genetic engineering is the altering, removal, or addition of genes through genetic processes. Moral is pertainingRead MoreUnit Title: Biochemistry Of Nucleic Acids.(A.C. 5.1 And1583 Words   |  7 Pagessuch if the signals are missing, cells replicate excessively and mutate, forming a tumour, and later, a primary cancer (American cancer society 2014). Figure 1.1. Mutation of the DNA leads to severe diseases such as cancer. (Midhath 2012) Mutation are abnormal changes in the DNA of a gene (Figure 1.1 above) (Midhath 2012). The building block of DNA are called sequences of bases, which determine the gene and its functions (American Cancer Society