Justification And Relevance Of Lesson

Everyone stands to benefit from the developments made in the field of genetics as everyone is made of genes. Genetics is the study genes and how they influence human biology. Genes are the molecular unit of inheritance found in cells, these genes encode everything about human physiology ranging from eye/hair colour to height, possible mental/physical disorders and so on. The field of genetic testing is concerned with advancements in the study of the functions of individual genes and how they influence living things. Major advances have been made in the study of the genetic structure of humans and external influences to our internal makeup, such as our quality of life and their implications that may have on our physical and mental development.

A gene is a region of a nucleic acid that contains hereditary biological information. For all cells, the nucleic acid is double stranded DNA, and it provides information for synthesis of RNA, and into protein, which is then expressed as hereditary traits in human.

Genes contain the recipe for the various proteins a cell needs to stay healthy and

FBN1 mutation scanning/ Sequence analysis – this test detects sequence variants and has a mutation detection frequency of 70 – 93%.

Genetic testing identifies changes in the DNA of specific genes to evaluate the genetic health of an individual. Some genetic variants suggest that a person may have an increased risk of developing certain diseases. Other genetic variants may affect the action of particular drugs. Reactions to drugs constitute a serious health problem across the world. Adverse drug reactions are the fourth leading cause of death in the U.S. Research suggests

Heterozygous familial hypercholesterolemia current drug therapy statins, bile acid sequestrates, or other lipid lowering agents that lower cholesterol levels with relative success. Homozygous familial hypercholesterolemia (HoFH) is not treated well with standard lipid-lowering medications and needs costly methods to lower LDL-like apheresis or a liver transplant. HoFH occurs approximately 1 in 1 million births, creating a small population to gather data about treatments for this rare disease state. 1 Studies have shown that the best role of Juxtapid in familial hypercholesterolemia is as adjunctive therapy

AS.R.4- Reading: Interpret words and phrases as they are used in a text, including determining technical, connotative, and figurative meanings.

After examining my family’s health genome, I am able to identify strengths and weaknesses of my family’s health. For strengths, my mother’s side has little to no health conditions or concerns. Also, neither side has had a history of cancer. However, there are some weaknesses in my family health tree. My biggest concern for my immediate family, and my dad’s side is hypertension and heart disease. Even though this may just be due to lifestyle factors, I think there may be a genetic factor involved as well. This is because hypertension appears in both my aunt and dad.

Heredity – Some people are born with a genetic pre-disposition to forming high cholesterol called familial hypercholesterolemia.

Hypercholesterolemia is both a dominant and recessive disorder. The genotypes for the dominant disorder would be heterozygous and for the recessive disorder the genotype would be a Homozygous recessive. The two genotypes in the hypercholesterolemia disorder represent the severity of its affects will be. Both of heterozygous and homozygous version of hypercholesterolemia cause a loss of low density lipoproteins. Low density Lipoproteins are receptors in the liver cell that breaks down cholesterol carried in the blood, the loss of lipoproteins can cause severe consequences in an individual. In a heterozygous version of hypercholesterolemia an individual would have blood levels that are twice than normal due to the loss of lipoproteins. This would cause an individual to have an increase in cholesterol build up in the artery walls which can lead to serious heart problems. Homozygous recessive version is the worst

An initial step to investigate the existence of a genetic or hereditary component of a disease is the demonstration of familiarity. These studies are used to design an epidemiological case-control. Thus it appears on one hand the frequency or prevalence of the disease in relatives of carriers of the disorder, and on the other hand there is the frequency of that disorder in relatives of healthy individuals,

All cells in the body contain the same DNA sequence. Although all cells contain an identical DNA sequence, they all have different cell structures and functions. Each structure and function of the cell differs because the cell has specific use for or will only express certain genes. Genes in DNA are expressed when they are read and transcribed into RNA which then gets translated into proteins by ribosome structures. Proteins are used to determine a cells characteristics and functions. Inside of each cell the DNA as well as histones can be tagged by tiny chemicals that modify gene expression. These chemical tags have the responsibility that causes genes to be turned on or turned off. This causes genes to be expressed or silenced. The epigenome is a wrapped up package of DNA.

What is the probable genetic causation of excessive cardiovascular disease in the Family pedigree presented? Are any lifestyle issues causing an exacerbation or alleviation of this disease?

Dr. Collins uses numerous examples throughout his book, including personal experiences to explain the effect genetic testing has on the diagnosis and treatment of numerous diseases. For example, Dr. Collins speaks about the positive experiences individuals have had in regards to the treatment of their genetically inherited conditions. One case he mentions is a girl named Tracey Beck. Tracey suffered from phenylketonuria (PKU), a condition where the body cannot metabolize the amino acid phenylalanine that is found in protein. High levels of phenylalanine build up in the brain causing developmental delays. After exhibiting signs of sleepless by her mother, Tracey was given a newborn screening test. The results of Tracey’s test were

In this story the author tells us about a girl named Sylvia, the narrator, who lives in a very low income family. A place where school is not a priority. A place where it is more important to be strong and hard, than to read a book. This was the thought anyway, before Miss. Moore moved in. She was a school teacher who took it upon herself to teach the neighborhood kids. On one summer afternoon in particular she was going to take the kids into town on a field trip. The kids are not at all happy about this because they know it is summer break and they are not supposed to be in school in the summer. They would rather be at the pool playin’, but Miss. Moore knows that if these kids want a chance at a better life,