Genetic Disease And The Medical World

Cystic Fibrosis (CF) is the most common and fatal genetic disease currently in the United States, affecting roughly 30,000 Americans each year (National Human Genome Research Institute, 2013). CF is an autosomal inherited disease that adversely affects the mucus and it’s production throughout the entire body. Mucus is normally a slippery substance that lubricates and protects vital organs and body systems including the lining of airways, reproductive system and digestive systems. Patients who are diagnosed with CF actually have mucus that is abnormally sticky and thick, which places them at a high risk for severe pulmonary, digestive, and reproductive problems. Specifically regarding the pulmonary system CF patients often develop clogged airways, leading to bacterial infections and breathing abnormalities such as chronic coughing, wheezing, inflammation and lung damage. As a result of this recurrent and problematic, this places the patient at an increased risk for permanent lung damage and disease. Over time due to recurrent, chronic lung infections the characteristic of the lungs begin to change as more and more scar tissue develop making them fibrotic and develop cysts.

For my 16th birthday I received a locket with my monogram on it. Inside was a picture of me and my grandfather when I was little. Earlier that year my grandfather had passed from kidney failure. My papaw was my best friend and being the youngest granddaughter, hit me hard. The rest of that year put me into a major depression. Which led to me being put on anti-depression medication (that was a whole other roller coaster). I can say that those 5 months were the hardest of my life. This due to my mother's diagnosis of stage 2 breast cancer and the seizure disorder I was diagnosed with shortly after. So when I received that locket on my birthday I knew I could always have him closest to my heart. I know my sister does not understand how that small

During my senior year of high school I was diagnosed with a rare, incurable, and severely misunderstood neurological disease known as narcolepsy. After more than a decade of fighting debilitating exhaustion, comparable to the fatigue of two to three days of sleep deprivation, my diagnosis came as a frightening relief. While it was comforting to know that there was an explanation for the symptoms I had been experiencing, discovering that the sleep attacks and exhaustion would be something I would have to deal with for the rest of my life was a bit overwhelming.

The CRISPR-Cas9 research and recent advances in animal models are showing promise to treat lots of human genetic diseases in the future. In a mainstream science article published by IFLScience!, they highlight research being done at Salk University that is working on using CRISPR-Cas9 and HITI technology to target non-dividing cells of the eye to help improve vision in rats with retinitis pigmentosa.3 The article briefly mentions what the CRISPR-Cas9 system is, stating that CRISPR is a method that snips strands of DNA and replaces those with new genetic material.3 Other than the effects of CRISPR research, and what it could mean for the future of genetic diseases, IFLScience! fails to mention the complexity of how the complex works, the engineered specificity of it, and the problems with current delivery.

There are four different types of genetic disorders: single gene mutations, chromosome mutations, multifactorial, and mitochondria. Single gene mutation, also known as Mendelian disorder, is an abnormality in the DNA of a gene, and is divided into three categories, dominant, recessive, and X-linked. Chromosomal mutation is a result of extra or lack of a certain number of chromosomes, or an irregular structure of a chromosome. Multifactorial disorder is caused by multiple genes that are combined with environmental and by the lifestyle of that particular person. Mitochondrial disorders are caused by mutations in the DNA of mitochondria, that affects mitochondria function. Although the four types of genetic disorders all affect the human body

Birth defects or genetic disorders can be defined as the presence of the deformities or deficiencies in the physical or cerebral formation or function of a child at birth. These disorders range from inconsequential to critically collapsing or life-threatening. A major imperfection of some type happens to be present in just about three percent of all births. Some defects like Down syndrome, Tay-Sachs disease, sickle cell disease, and hemophilia are genetic in origin. On the other hand, some defects like rubella, gonorrhea and syphilis may be caused by infections. Other agents that could cause malformation include drugs or hormones taken by the mother during pregnancy. A defect can also occur in the baby if there is a history of maternal illnesses such as diabetes. The developing fetus can also be affected due to the kind of nutrition mother consumes. If a woman drinks alcohol, uses drugs or smokes, her children are likely to be born defected. In some cases, when a pregnant woman is exposed to toxic chemicals and radiation, the developing fetus is expected to develop poorly. If the male parent is used to of smoking, takes drugs, or is exposed to toxic chemicals, all such things can damage his sperm. This defected sperm may transfer the defect to the embryo in fertilization. Some disorders appear if the mother or father is older. The older age elevates the chances age-related gene mutations. Now the scientific technology has become so advanced

Genetic disorders have plagued people for ages. However, recent research and new discoveries in gene therapy has brought new hope to those unfortunate individuals that are ailed by their own genetics. Gene therapy is a technique of correcting defective gene sequences specifically responsible for the disease. In 1990, the first successful clinical trial of gene therapy was initiated for adenosine deaminase deficiency (GT). Since then, the number of clinical treatments induced worldwide has increased exponentially. Gene therapies have been a part of modern medicine for almost two decades now. Only recently have scientists started to deliver on their immense promise after a string of setbacks raised doubts about the safety of manipulating human DNA. The idea of gene therapy has been around for a while, but it wasn’t until recently that this field of molecular biology has come more into the light with its advancements over time. Experimentation has been an ongoing process with gene therapy. Although, ethical issues of controversy have surrounded this topic since the beginning. But new facts on gene therapy continues to rebuttal most controversy.

From carrying stimulants everywhere you go like they’re Tic-tac’s, to making sure you have a DD (designated driver) after 9 o’clock to avoid falling asleep while driving, this is the reality for people who are diagnosed with idiopathic hypersomnia. Living with any sort of sleep disorder whether it be narcolepsy, IH, sleep apnea, or insomnia is extremely hard and they deserve a little bit of recognition for all of the issues and side effects that arise from

There are many genetic diseases and disorders in the world these days, some of which are stranger or more unique then others. One such unique genetic disease is Congenital Insensitivity to Pain with Anhidrosis or CIPA for short. This particular genetic disease causes people who have to it to not be able to feel pain or even differentiated between hot or cold. As well as be unable to sweat, because of the anhidrosis. This genetic condition is also known as hereditary sensory and autonomic neuropathy type IV, but in this paper it will only be referred to as CIPA.

There are three categories that can classify genetic diseases. They are single gene disorders, chromosome disorders, and multifactorial disorder or complex disease. Each of these categories are different with and affect people in certain ways. Single gene disorders, also called Mendelian disorders, are caused by a modification that occurs in one specific gene. An autosomal dominant defect occurs when there is an altered gene and a healthy gene that are inherited. An example of this type of defect would be Huntington’s disease, an individual only needs one copy of this defective gene on chromosome four to have the disorder. Autosomal recessive defect, is another type of single gene disorders that occurs when there is two altered variations of

Regardless to what gene therapy is, it has been characterized as unethical by society, and reveals to be quite dangerous. An article, “Genetic Engineering”, states, “If scientists can cure genetic disorders, they can also design individuals in accordance with the cultural and intellectual fashions of the day. Will humans know when to say “enough” to the changes that can be made with HGT?” [17] According to this article, many people are standing out and protesting these sort of procedures for not being rectitude. Adding on, many fear that this medical life-saving treatment will be used to alter the physical appearance of someone without a medical purpose. Say if in the future, gene therapy is used to modify a person’s appearance, it could possibly

Genetic disorders is a genetic problem caused by abnormalities carried in the genetic materials in the cell. Most genetic disorders are rare and affect one person in a thousand. Genetic abnormalities can lead to cancer along with other health conditions. Genetic disorders can be inherited from a parent to their offspring but can also develop in a person’s lifetime. A genetic disorder can only be inherited if the mutation carried by the parent is in the sex cells. There are four main types of ways people inherit a disorder. These are Autosomal dominant where the disorder is apparent in every generation and can cause the condition in everyone who has the alteration. This occurs because the

Moreover, Positive aspects of gene therapy are apparent as it can give many peoples a new life. It can reduce the stress on future parents as they do not have to think or worry about having a child with disabilities they can have a normal child because gene therapy can wipe out genetic disease before they can begin and eliminate suffering for future generations; it is also good technique for diseases that are not searched yet because each of us caries about half a dozen defective genes, however we remain ignorant to this fact unless we are among the millions of people who have a genetic disorder; about one in ten people has or will develop some time later in life an inherited genetic abnormality. It and can also silence a gene in the case

This article emphasizes the understanding how the awake system functioning in the brain could be causing a disruption in a person’s sleep cycle. According to the article, insomnia is caused when a person’s sleep and awake systems signals become indifferent from each other. For instance, the article indicates that a person’s brain carries two different types of systems. One which is the sleep system that sends signals that eventually helps you fall asleep and stay asleep. Two you have the awake system where it sends out signals that put your brain into a more active state causing you to be awake. As a result, if these awake signals do not slow down at night it causes you to stay awake provoking insomnia. On the other hand, the article also

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 gene in Retinitis Pigmentosa, a genetic disease of the eyes, in order to determine a proper treatment for it. Support through funding is crucial to the success of this type of research. With the recent increase in technological knowledge,