澳洲著名大学医学院的留学生代写assignment-遗传学ASSIGNMENT加案例分析

论文题目：遗传学ASSIGNMENT加案例分析
论文语种：英文
您的研究方向：遗传学
是否有数据处理要求：是
您的国家：澳大利亚
您的学校背景：澳洲著名大学医学院
要求字数：3000
论文用途：硕士课程论文 Master Assignment
是否需要盲审（博士或硕士生有这个需要）：
补充要求和说明：要画遗传学系谱 及做案例分析， 文章要经过抄袭软件分析 抄袭度必须低于10%

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ASSIGNMENT

Case Study:
Helen and her husband are pregnant with their first child.  Helen’s midwife asks about any family history of medical conditions.  Helen had a cousin Roy with severe neurofibromatosis who had traumatic health problems including seizures, learning difficulties and grossly disfiguring swellings and lumps all over his body. He eventually developed malignant tumours and died in early adulthood. Roy’s siblings are all unaffected and Helen remembers they were all genetically tested and none had any mutations. Consequently Helen doesn’t feel she could have anything to be concerned about herself, being less closely related and never having had any major health problems of any kind. Nonetheless the midwife refers her to a genetic counselor, who discusses with Helen the possibility that she may also have neurofibromatosis even though she appears generally healthy. Helen decides to be genetically tested and is found to have the same mutation as Roy had. Helen and her husband decide to have a pre-natal test and the foetus is found to have inherited the condition. They reluctantly decide to terminate the pregnancy.

Helen’s sister Suzanne decides to see the genetic counsellor too.  She has been attending an infertility clinic and is currently receiving clomiphene therapy to help her conceive.  After testing she is also found to have the same mutation.  She immediately discontinues the therapy as clomiphene greatly increases the risk of multiple pregnancies and she can’t face the thought of terminating several babies or of selective foeticide.  She feels angry that the risk of neurofibromatosis has never been discussed with her prior to her infertility treatment.

Additional Notes
Two types of issues relating to genetic diseases are sometimes distinguished. ‘Direct issues’ relate specifically to the particular genetic disease under consideration whereas ‘indirect issues’ in this context refers to issues that are not directly tied to the specific disease per se but that affect people with genetic diseases in general. 

For example, neurofibromatosis patients will face certain issues that are specific to neurofibromatosis and are not inevitably experienced by other people with different genetic diseases. Having neurofibromatosis itself might cause you a specific direct problem with job options because of physical disfigurement. That would be a direct consequence of having neurofibromatosis.

Completely independent of the specific direct problems you have from neurofibromatosis, you may also experience additional problems that may be experienced by people with a wide range of very different genetic diseases. These would be considered indirect issues. For example you might be considered unsuitable for a job because an employer does not want to employ anybody at all who has a genetic condition of any kind whatsoever (e.g. because they believe such people will take too much leave or will not perform well etc). These ‘indirect’ issues would not have anything to do with specific problems due directly to neurofibromatosis per se but would equally occur for genetic disorders of various kinds.
Assignment:
Discuss the following with respect to neurofibromatosis and using Helen’s family as an example:

• Disease Features Briefly describe the disease characteristics, including symptoms, onset age, prevalence, biochemical mechanisms (if known), treatment and any other factors you consider particularly relevant.

• Testing What tests are available for neurofibromatosis?

• Genetics Draw a pedigree for the family. Briefly discuss the inheritance pattern of neurofibromatosis. What are the risks of a person having the mutation if her cousin has the disease? Does it make any difference whether or not they are the same gender? What are the probabilities/risks that the children of this person will inherit neurofibromatosis? Discuss the difference between penetrance and expressivity using neurofibromatosis as an example. Is it possible to predict how severely affected a person with a neurofibromatosis mutation will be? What factors may influence this?

• Counselling Discuss how genetic counselling can assist families with genetic disorders in general, the roles it has played in this case study and how further genetic counselling may be able to assist Suzanne and Helen in the future.  What options are available for Helen and Suzanne if they decide to try to have children in the future?

• Pharmacogenomics Is it reasonable for Suzanne to believe that she should have received more counseling about neurofibromatosis before commencing IVF therapy? It may help to consider whether the pharmacogenomics issue involving clomiphene therapy is a ‘direct’ issue or an ‘indirect’ issue and, related to this, whether it likely to arise often or be relatively rare. What are some of the main kinds of ‘direct’ pharmacogenomics issues that can occur for genetic disorders in general?  Are there any other direct or indirect pharmacogenomics issues that you can think of that might need to be taken into account for neurofibromatosis sufferers and their families?