The second most common defect is transmitted to the infant because both parents have contributed an abnormal gene governing the production of a cell enzyme (adenosine deaminase (ADA) or nucleoside phosphorylase) needed for the development of immunity. (This type of inheritance is called autosomal recessive inheritance.) There are additional forms of SCID which have been recognized in the past few years, in a number of cases, the defective genes have been identified. There are thr... ... middle of paper ... ...virus. 4.
George Washington The genetic disorder I was told to research was the Sickle Cell Disease. I will explain what mutation causes this disease, the characteristics of it, and what has developed in the area of gene therapy because of it. The Sickle Cell Disease is an inherited disease. The gene for hemogoblin-S (which causes the disease) is the most common inherited blood condition in America; although most people only inherit one copy of the gene for HbS, while the other gene, hemogoblin-A, is normal, and can override HbS, blocking the disease. These people have the HbS trait, but not the disease, therefore leading a normal life.
Usually, the genes perform flawlessly, but mistakes can and do occur. Some of the most common birth defects results from the interaction between one or two abnormal genes out of 100,000 that make up who we are. This is caused by the genes parents pass on or effected by drugs and alcohol upon the fetus of a new born child. Down's syndrome, the most common genetic disease formerly known as mongolism, "occurs one in every six hundred births throughout the world" ( Storm 102). It is caused by chromosomal error, where there is an extra chromosome 21.
In conclusion, Hutchinson-Gilford Progeria Syndrome or Progeria, is a rare and fatal disease that occurs in children. It is caused from a random mutation in the gene, lamin A which ultimately causes the nucleus to become unstable. Children with Progeria die at the average age of thirteen and may suffer from multiple complications such as the hardening of arteries, stiff joints, hip dislocations, heart attacks, or strokes. Although death is inevitable, these children are extremely lovable and live normal lives just like any other child would, despite their physical disability. Currently, the Progeria Research Foundation is trying to come up with multiple treatments and hopefully a cure in order to rid the world and those are suffering from this devastating disease.
Every year a considerable number of children are born with a genetic disease, a disease that occurs because each of their parents carries a defect in the same gene (Rigby 1995). The most common disease of this sort, with about couple thousand affected children born each year, is cystic fibrosis, which leads to a clogging of the lungs, and to problems with digestion and other functions. Although improvements in care and treatment mean that people with cystic fibrosis can now live for up to twenty-five years, there is no cure. A much rarer but nevertheless well known disease, is severe combined immunodeficiency (SCID). SCID children with this condition have a defect in both copies of a gene which is required for the proper functioning of the immune system.
“Maybe we can take one more disorder off the incurable list.” ( Thomas H. Maugh II page 1) Nate Liao, the 2-year-old boy Minneaplois boy, and his older brother have Recessive Dystrophic Epidermolysis Bullosa (RDEB), a genetic disease that affects one ... ... middle of paper ... ...eir fatal genetic disease (RDEB), and produce the protein Collagen Type VII that they critically needed. But in the case of the 46-year-old female with SSC doctors have raised the question if stem cell treatment is the cure for all patients and all diseases. Because of this uncertainty stem cell treatment is still being researched and does not have a full prove place in medicine. Bibliography Maugh II, Thomas H. “Stem Cell Apparently Cure Boy’s Fatal Disease.” Los Angeles Times 07 June, 2008 http://articles.latimes.com/2008/jun/07/science/sci-stem7 Marcotty, Josephine. “Long-Shot Stem-Cell Treatment Gives Two Brothers A Future.” Star Tribune 03 June, 2008. http://www.startribune.com/lifestyle/health/19471139.html?location_refer=Your%20Money O Rosen, et al “Bone Marrow Transplantation” NPG 02,March 2001 http://www.nature.com/bmt/journal/v27/n6/abs/1702829a.html
Imagine giving birth and your newborn is perfect in every, only to find out in three months or so there is something severely wrong. That is how it starts with Progeria also known as Hutchinson-Gilford Progeria Syndrome. HGPS is a extremely rare genetic disorder that causes a child to prematurely age shortly after birth. It not only affects the appearance of the child but also the overall health. Progeria is a very terrible and deadly disease that hopefully we find a cure for soon.
Varicella (Chickenpox) There are countless diseases and other viruses that humans come into contact with each day. They range anywhere from a harmless cold to a life-threatening illness. The human body does a good job at learning from these pathogens to better adapt itself to fight off these things. Among these viruses that the human body can come into contact with, chickenpox has always managed to make itself relevant. Varicella is what most people know as chickenpox, and it was considered universal for all kids growing up until recent improvements in medicine started to lower the risk for children.
RU-486 is not the same as the “morning after” pill (postinor -2). RU-486 is the generic term for mifepristone, an artificial steroid that blocks progesterone, a vital nutrient hormone. It causes the vital nutrient lining of the mother’s uterus to disintegrate, and the embryo withers and dies. RU486 has had people under the illusion it is a inexpensive less traumatic option when compared to decide between it and surgery. However conversely, RU486 continues to shock people and destroy lives., it has been proven to be more traumatic and painful then surgical abortion.
There is a little less then a 50% chance that the new born child, whose mother drank heavily during pregnancy, will be born with FAS. Even if the child is not born with FAS, there is a better then 50% chance that the child will have many Fetal Alcohol Effects (FAE) from maternal alcohol consumption during pregnancy (Berhow 364). Each infant that is born with FAS is a large financial burden. The institutional and medical costs for one child with FAS is an average of over a million dollars during the child’s lifetime. Whatever the mother drinks while she is pregnant, the child inside her is drinking.