Day: February 9, 2020

 Topic:

State in general terms how the listed disorders differ from disorders we previously discussed like CF and Sickle cell anemia. By what mechanisms do these disorders arise? Choose one of the following disorders to focus on. Discuss the mechanisms that lead to the following disorders, the specific conditions that these people experience and the long-term prognosis for those who inherit one of these disorders. While making your comments, you could take the voice of one of the following people:

• The affected individual
• A parent of the affected individual
• A doctor advising the parents after amniocentesis or chorionic villi sampling has shown that their fetus has the disorder.

Possible disorders:

• Down Syndrome (trisomy 21)
• Down Syndrome (translocation)
• Patau Syndrome
• Edward’s Syndrome
• Kleinfelter Syndrome
• XYY or XYYY
• XXX
• Turner’s Syndrome
• Cri-du-chat syndrome
• Fragile X syndrome
• Acute myelogenous leukemia

Respond to Others: Read the postings of your classmates and comment on at least one other student’s response. Do you agree with his/her interpretation? Why? Why not?

Discussion Board Grading Rubric:

1. Original posting: (7 points)

• Posting is at least 100 words, and has proper grammar and punctuation (2 points).
• Posting fully addresses the discussion board questions. (2 points)
• Discussion is original and at a critical level, not just recitation of facts. (2 points)
• Proper citation of references. (1 point)

2. Reply to peer discussion posts: (3 points)

• Discuss one point you like/agree with, and one point you dislike/disagree with and explain why. (2 points)
• Length of positing consists of approximately 100 words minimum. (1 point)

Respond to Student:

 Jason Brewer

Patau Syndrome or Trisomy 13 is a condition that is most commonly associated with severe intellectual disability and physical abnormalities, like heart defects, or even brain and spinal cord abnormalities. There are also many other conditions that are a result of Patau Syndrome, including, poorly developed eyes, cleft lip, and even weak muscles overall. The most likely cause of Trisomy 13 is because there are 3 copies of chromosome 13 in each cell in the body instead of just the regular 2. This causes the normal course of development to be impaired which results in the conditions to arise. ( Trisomy 13 – Genetics Home Reference – NIH, n.d. ) Most cases of this disorder are not passed on from the parent but rather caused by some random events that occurred from the formation of the egg and sperm from the parents. Sadly, the prognosis for this disease is the people who are diagnosed with Patau Syndrome, usually only live to see a couple of days to weeks, only a mere 5% of people with this syndrome live past their first year of life.

Topic:
It is now possible to have human embryos produced via in vitro (test tube) fertilization (IVF) tested for many different genetic diseases such as Huntingtons disease, muscular dystrophy, cystic fibrosis, sickle-cell anemia, a form of Alzheimers disease, and BRCA1 associated cancers among others. Those embryos that have the gene for any of these diseases will be discarded and only those embryos lacking the disease-causing genes will be used for implantation into the potential mother. The technique used to do this is called pre-implantation genetic diagnosis (PIGD). It is also possible for sperm/egg donor banks to carry out a fertilization event on paper before it is done in vitro.
This way, prospective parents can reduce the risk of having a child with some genetic disorder. There are also other genetic changes that might be done with PIGD techniques including the choice of embryos with specific gene combinations for eye color, height, hair color and others. Many traits will likely not lend themselves to modification because they are too complex.
Finally, the potential exists for modification of an embryo with a genetic disorder that would replace the ‘bad’ copy of the gene with ‘good’ copies.

1. Give a detailed explanation of IVF. Be sure to discuss the various reasons why couples might choose to use this technique.
2. Discuss the details of PIGD. What procedures must be done to lead to the production of a ‘healthy’ embryo. Be sure to discuss what ‘healthy’ means in this context.
3. Weigh in on the topic of PIGD in conjunction with IVF pointing out what you think are the pros and cons of this developing and ever-improving technology.

Respond to Others: Read the postings of your classmates and comment on at least one other student’s response. Justify any comments you make with factual information.Discussion Board Grading Rubric:
1. Original posting: (7 points)

• Posting is at least 100 words, and has proper grammar and punctuation (2 points).
• Posting fully addresses the discussion board questions. (2 points)
• Discussion is original and at a critical level, not just recitation of facts. (2 points)
• Proper citation of references. (1 point)

2. Reply to peer discussion posts: (3 points)

• Discuss one point you like/agree with, and one point you dislike/disagree with and explain why. (2 points)  
• Length of positing consists of approximately 100 words minimum. (1 point)

Please Respond to this Student:

 Jordan Ritman 

In vitro fertilization (IVF) is a procedure used to help a woman become pregnant. The process actually sounds quite simple. Sperm is collected to fertilize an egg and that egg is then implanted in the uterus. There is more to it though, first, the patient would also have to take medication that helps mature the eggs for fertilization and those eggs are taken out of the body and placed together with sperm. Some couples may use IVF because they have a hard time conceiving, or if the eggs that they carry have possibilities of having genetic disorders such as down syndrome and others. PGD is used prior to implantation to genetic defects within the embryo. PGD is for couples that usually are at risk for passing genetic disorders or defects to their offspring. IVF and PGD go against somethings that people believe in pertaining to religious beliefs mostly. 

This is what’s on the syllabus pertaining to the Discussion Topics for this class: You will find several topics already started for each weeks Forum. They are labeled according to their corresponding week. These questions are started by the instructor. They are to initiate discussions by starting a string of replies from participants. You are to Reply only to these types of questions. Do not start your own Discussion Topic.

Discussion Topic: The Heart Transplant

The hospital ethics committee was discussing an important and urgent  case. A donor heart had become available, but an extremely rare thing  had happened. Two heart-transplant candidates in the hospital were both  matches for the donor heart. One patient was known to the committee as  Mr. X, the other as Ms. Y.

For someone with heart failure, Mr. X had been on the transplant  waiting list a long time. He had been waiting one year and was near  death. Ms. Y had just been placed on the list and could be sustained  with medication for quite some time, possibly until another heart became available. The answer seemed obvious-give the heart to Mr. X.

A number of the members of the committee did not agree with this  answer. They argued that time on the transplant list should be only one  factor considered. They saw a problem in Mr. X’s medical record.

Mr. X was 64 years old and had suffered from a heart condition for  years. He had had two angioplasties and two bypass operations to correct a blockage of the heart’s blood vessels. The problem seen by some  committee members was that Mr. X still smoked, ate fatty foods, and was  very overweight. After each procedure, doctors had warned Mr. X that he  must change his life-style, and that if he didn’t, his condition would  worsen. He never stopped smoking, however, and never changed his diet.  He said it was too hard.

Research has proven that smoking and high cholesterol are risk  factors for heart problems. Blockage of the coronary arteries is  directly attributed to these two factors. Treatments such as angioplasty (opening the blood vessels by passing a tube into the arteries) and  bypass surgery (connecting new blood vessels that go around the clogged  ones) can correct the problem, but they are not a total cure. To avoid  further problems, patients must control their diet, stop smoking, and  alleviate stress. This, of course, is not easy. Mr. X appeared not even  to try.

The heart was about to be airlifted to the hospital. The committee had to make their decision very soon.

Questions

1. What should the committee do?       

2. How would you vote if you were on the committee?

(200-word minimum for each question please)