Genetic disorder

Argyria, or more commonly known as blue skin disorder, is a condition in which the skin turns purple of purple-grey in color. This is due to the acquisition of silver or silver compounds in the body. Generally this rare skin disorder only has cosmetic effects and is not a lethal condition. However argyria is mainly incurable and irreversible. There are two forms of argyria, generalized argyria and localized argyria. Generalized argyria affects large areas of the visible surface of the body…

Gene therapy has been studied as a potential treatment for genetic disease since the 1980s. The goal of gene therapy is to help correct genetic disease by providing a functioning copy of the gene to make up for the genetic defect. In the laboratory a functioning copy of the gene is packaged into a lentiviral vector, this is a modified virus that acts as a transport vehicle for the functioning gene. The lentiviral vector delivers the functioning copy of the gene into stem cells taken from the…

In modern molecular biology and genetics, the genome is the genetic material of an organism. It consists of DNA (or RNA in RNA viruses). The genome includes both the genes and the non-coding sequences of the DNA/RNA. Understanding Human Genetic Variation Genetics is the scientific study of inherited variation. Human genetics, then, is the scientific study of inherited human variation. We study genetic material due to following reasons; 1. One reason is simply an interest in better understanding…

“Turner Syndrome” Origin of Discovery Can you imagine what it would be like to have Turner’s Syndrome what that is, is a chromosomal condition that affects the development in most females, a common feature in Turner’s Syndrome is a girls or womens natural Stature (height) and it becomes most obvious to girls around age 5, another common effect is an early loss of ovarian function (ovarian hypofunction or premature ovarian failure), Turner Syndrome was founded in 1938 by Dr. Henry Turner and…

patients petitioned together in order to sue Myriad Genetics for attempting to patent the specific genes known as BRCA1 and BRCA2. Christopher A. Hansen represented the plaintiffs of this case while Donald B. Verrilli, Jr., Solicitor General, from the Department of Justice in Washington D.C., argued on behalf of the respondent of the case (SCOTUSblog). BRCA1 and BRCA2 are genes that can be used as indicators of breast cancer in women (Oyez). Myriad Genetics had sequenced these genes from strands…

Previously scientists had been able to create any type of animal cell in a petri dish, but this was the first occurrence of offspring with specific genetic alterations. “ ‘The idea that we can modify primates easily with this technology is powerful,’ says Jennifer Doudna, a professor of molecular and cell biology at the University of California, Berkeley, and a developer of CRISPR”(Schaffer). She states…

Utilitarianism: Decision Scenario One Procreative beneficence (296) Nearly 5000 diseases have been known to involve genetic factors. A tremendous increase has been noted in the use of genetic information to predict and diagnose disease. No programs of positive eugenics are currently operated in the United States. It is possible however to select an embryo via in vitro fertilization and preimplantation genetic diagnosis. Currently the only non disease state that a test is available for is gender…

Spinocerebellar ataxia type 1, described as progressive cerebellar ataxia, a disorder that occurs when the cerebellum becomes inflamed or damaged, dysarthria (a disorder of articulation, such as stuttering or stammering), and eventual deterioration of bulbar functions (estimates of speech intelligibility and speaking rate). Ataxia, meaning in coordination. When the disease first starts showing up, individuals may experience: “slurred speech, difficulty with balance, and hypermetric saccades”…

chance that each child in the family will inherit a mitochondrial disease. Mitochondrial inheritance is when the mitochondria contain its own DNA. The body has many cells and each cell has may have more than one mitochondria. Only mitochondrial disorders caused by mutations in the mitochondrial DNA are exclusively inherited from mothers. This means that there is a 100% chance that each child in the family will inherit a mitochondrial disease. This doesn’t mean that these are the only…

If the child does get the genetic disease, then it will be costly with all of their medical bills due to testing and treatment. First of all, this will help the parents save money because they must pay for their child’s medical bills until they are eighteen. Secondly, the child will save money because they will eventually have to pay for their own medications and treatments. Modifying embryos is beneficial in one way that it can take away a genetic disease therefore saving money, creating…