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Compare and Contrast Genetic Diseases Essay

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KLEIN Burger

December 22, 2011


Mr. Kingsman

Period 7

Compare and Contrast Genetic Diseases Essay

Human genetic diseases are a wide-spread collection of conditions and syndromes that humans can be born with. These diseases can be similar to one another in one trait or very different in another. This paper contrasts and compares five of those diseases and they are as followed; Spina Bifida (SB),Sickle cell Anemia (SC), Marfan syndrome (MS),Tay-Sachs (TS),Neurofibromatosis (NF). The characteristics all these diseases have that make them similar are because all of them have a genetic component. All five diseases are what doctors call congenital, which means it is a disease you are born with. All of these diseases are or can be if not treated properly, very serious diseases that are relatively common in the U.S. population and world.These five diseases cannot be cured or prevented, but some can be treated. They all affect more than one tissue or organ.These five diseases have many traits in common, they also differ from one another in a couple different ways.

Neurofibromatosis is a dominant condition that is caused by a mutation in the NF gene, and there is no prenatal test to see if a baby has NF. It appears in people in the U.S. at a rate of one in 3000 people in the U.S. population, so it's pretty common, and it does not affect single racial and ethnic groups, but all races of people. Approximately a half of it's cases are caused by a new mutation not present in either of the parent's, which is different from three of the other four diseases left to discuss. NF is a neurological disease where the patients have neurofibromas, which are small benign tumors under the skin, and cafe-au-lait spots, which are large tan spots on the skin. For this disease there is also the possibility of learning disabilities or hyperactivity,higher chance of scoliosis, and there is the possibility of eye or ear tumors that can cause blindness or deafness/loss of hearing. As of right now doctors have not yet discovered a possible prevention or cure for NF,But fortunately people with the disease can be treated with surgery for the removal of the tumors and surgery or a brace to treat the scoliosis.

Spina bifida is a birth defect where the spinal column is open. There are three types of SB, with symptoms ranging from very mild with no symptoms, to moderate with a lump on the spine that may cause a persons legs to be weaker than one who does not have the disease, to a severe open defect. In the severe type, spinal fluid could possibly leak out, there is a very high infection risk, the person's legs are paralyzed, and 70-90% of cases there may be water on the brain,which is known as hydrocephalus. Some of the effects can be treated with lots of surgery's, but just like the other four diseases, there is not yet a cure. Spina bifida is a disease that is most commonly caused by a combination of genetic and environmental factors, so it is different from the other four diseases in that they are caused only by genetic mutations.Spina Bifida shows up in 1 of every 2000 babies born in the U.S. When a mother has already given birth to a baby with SB, the risk increases incredibly up to 1 in 40 babies born, and with two affected babies the risk goes up to 1 in 20. It is also a disease common in some certain ethnic groups rather than in others. This tells us that there is a genetic component to the disease, but scientists believe that there is also a prenatal environmental cause,they just haven't found out what that is yet.

Marfan syndrome is a dominant condition, is the rarest of the five diseases because it occurs in 1 in 20,000 people,Marfan syndrome is similar to NF as they are both dominant conditions. Reports have said around 15% of cases are caused by a mutation in the male's sperm or the woman'segg, so the rate of this disease in babies born is much lower than children born with NF. There is no genetic test for MS, and it is diagnosed by its symptoms. It is a disease of connective tissue. Patients



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