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Various genetic disorders
Various genetic disorders
Various genetic disorders
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Genetic conditions are occurences in which a DNA abnormality is expressed. Some conditions pose a threat to the organism it inhabits, whereas some are neither beneficial nor harmful. 350 million people globally have some type of genetic conditiom, and they're sure to spark interest. There is only 1 in every 10,000 people who have situs inversus. Situs inversus is a condition in which all the organs in the body are mirrored; the heart is on the right side, and the liver is on the left. Nineteen days into fetal development, the cilia, (hairlike structures), on the cell come to life. The flow of the cilia turns genes on/off, and tells them where to go. In individuals with situs inversus, the cilia didn't move at all, which "confused" the genes and triggred them to be reversed. Therefore, the left gene turned into a right gene, and vice versa. My thoughts on this situation are that although the condition is fatal for 30% of the embryos it happens to, the survivors sure have an interesting fact to tell. …show more content…
Ectodermal Dysplasia is a condition in which In developmet, the cells undergo specialization.
There's layers upon layers of cells, but in this condition, the surface layer cells went wrong, This means which the hair, skin, nails, and teeth don't take on the vital properties needed for development. Individuals affected by ED face a lifetime of special needs which may include dentures at a young age, special diets to meet dental/nutritional needs, protective devices from sunlight, and respiratory therapy sessions. My thoughts on the situation are that although it may be discouraging, keeping a positive mindset can help distract from the physical
disadvantages. Do you remember in elementary school there was always that one kid who was head and shoulders above everyone else? Chances are that one kid had a genetic condition that caused them to grow at an alarming rate. In this genetic condition, you inherit two growth genes. The genes overproduce the growth hormone. This may sound like an advantage, but with great height comes great cell division. The cells divide faster than normal, which causes an increase in the chances of getting cancer. My thoughts on this condition are that although it might be nice to be the tallest one in the room, I wouldn't want to live my life constantly worrying about my cells dividing way too fast. There are millions of genetic conditions in the world, and each on is special in its own way. And to think, we all came from one sperm and one egg, and developed into these complex organisms called humans.
There are more than ten inherited disorders within Elhers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) is a “genetic defect in collagen and connective tissue synthesis and structure” (Schwartz, 2013). EDS affects the skin, joints and blood vessels in most types. In EDS the abnormality of the collagen varies dependent on the type of EDS. Six of the main types of Ehlers-Danlos syndrome include; types I and II EDS which are called the classic type, type III hypermobile EDS, type IV vascular EDS, type VI kyphoscoliosis EDS, type VII A and B arthrochalasia EDS, and type VII C dermatosparaxis EDS (Willacy, 2011).
Ehlers Danlos Syndrome Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into a detailed discussion on two of the six types of EDS. The two major types of EDS are Classical EDS and Hypermobile EDS. These two types make up 90% of all EDS cases.
Twins are truly fascinating from the time of separation of the embryo to birth; and still the complexity of twinning is not yet fully understood among the scientific world. Scientists have studied the human body from the time of prenatal development to birth, and still are in awe of the formation of twins. Research in twinning is ever more increasing in this field, leadi...
Conjoined twins, from the moment they enter the world, face a myriad of social, physical, psychological, and health problems. If one or both of the conjoined twins’ major body parts cannot properly function, they usually die within a few days. The births of conjoined twins are when the skin and internal organs are fused together, which only happens in every 40,000 births. The ratio for the sex of conjoined twins is 3:1, the 3 being the girls. Conjoined twins are increasingly accepted into our everyday lives as we grow to understand their unusual physical and emotional bond and learn more about the science behind their development.
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
Turner’s syndrome is a genetic conditions that affects the female’s sex chromosome. In (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/) Turner’s syndrome occurs when cells are missing all or part of an X chromosome. It’s common of the female patient to only have one X chromosome. Although, some individuals may have two X chromosomes but one is defective. It is thought that an estimated 1 out of 2000-2500 females suffer from this genetic condition worldwide but it’s usually females with this condition don’t survive their birth. Due to this abnormality, the genes that is defective “affect the growth and sexual development of the female” (http://learn.genetics.utah.edu/content/disorders/whataregd/turner/). However other disabilities and delays do occur even though these traits can vary case by case.
A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009).
These deficits include: perseveration, which is the inability to make behavioral shifts in attention, movement and attitude, decreased creativity, poor recall of verbal and nonverbal material, difficulty writing, and deficits in comprehension of logical-grammatical constructions (CJ Long 2005). Other effects of extensive lesions: - easily distracted - disturbances in memory - defects in time sense - decreased anxiety - less critical of oneself - difficulty with unfamiliar analogies - impulsivity
Genetic diseases are diseases passed down through heredity and genes. Tourette Syndrome is one of the more common genetic diseases. Although it is made fun of in television and movies, Tourette Syndrome is a very serious disorder.
Genetic testing involves examining an individual’s DNA and identifying abnormalities within the chemical makeup of specific structures. It, essentially, maps the person’s genome and can be interpreted to predict future issues. By analyzing the chromosome, genes, and even certain proteins, physicians and researchers can find changes that lead to inheritable disorders. These changes can lead to possible diagnosis or cure for the disorder in question. In most cases, genetic testing is used to determine the probability that an individual will develop a certain disorder. It is not used to specifically diagnose a disorder, as there are no techniques that are 100% accurate. Genetic testing techniques do give good evidence to confirm a physician’s findings, but it is not the first act a physician takes to diagnose a disorder. It can narrow a search or rule out a specific disorder very confidently, but making a diagnosis based solely on genetic testing is not an action that a qualified medical professional would consider.
Conjoined twins are the rarest type of twins. Conjoined twins were once known as “Siamese twins.” Conjoined twins originate from a single fertilized egg so they are always identical and same sex twins. The developing embryo starts to split into identical twins within the first two weeks after conception but stops before completion. A partially separated egg is left of the embryo, and it continues to mature into a conjoined fetus (Hunter 1...
The study of the causes of substance abuse has been conflicting many people for a long time. There are two causes of substance abuse that have been argued for many years. The first cause is believed to be environmental. The second cause is a genetic cause that leads people to turn to drugs and alcohol. In “Touch of Grey” Lanthrop comes to the conclusion that his substance abuse issue posses both genetic and environmental causes. This argument is specifically compelling because he uses research and a personal statement to prove his findings. While environmental issues have a large impact on substance abuse, genetics have the greatest impact on substance abuse.
Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States today. CF is an autosomal recessive disease that occurs approximately one out of 3,300 live births (Cystic Fibrosis Foundation, 1998). Autosomal means that the gene for CF is not carried on the sex chromosomes and males and females are both afflicted by this disease. Recessive inheritance is when both parents "carry" the abnormal gene in their DNA but they themselves do not show evidence of the disease. The mother and father have one normal gene and one abnormal gene and don't show signs of disease because the normal gene dominates the abnormal gene. To have CF, a child must inherit two abnormal genes, one from each parent. Remember that chromosomes are made up of DNA or deoxyribonucleic acid. DNA is made up of genes, and genes are made up of building blocks called base pairs. The specific gene responsible for CF was identified in 1989 on human chromosome 7 (Pseudomonas Genome Project, 1998). A mutation, or change in the genetic material, resulting in a substitution or loss of one of the base pairs causes the CF gene to be abnormal (Cystic Fibrosis Foundation, 1995).
Each day was, and still is, a hard, frustrating and stressful time. This incurable disease has had a dramatic effect over the years starting when I was in kindergarten. I remember when my mother started using a cane so she wouldn't fall when she walked. She could still work, drive, and go on outings with me, her only daughter. In the beginning I didn't know how to grasp it all but I gradually understood a little more each day.