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Saturday, June 21, 2014

MUSCULAR DYSTROPHY

Write an essay on a human genetic disorder of your choice. Your choice must be approved by the module leader. You must ensure that there is sufficient information available to cover the following topics. 
The essay should include:
* A brief description of the phenotype, incidence and prognosis (5%)
* A description of what is known about the genotype for this disorder; its pattern of inheritance and how (if) this genetic information is used in the pre- or post- natal diagnosis the disorder. If the genetic information is used you should explain which tests and / or techniques are used (e.g. population screening, prenatal diagnosis by amniocentesis or CVS, pre symptomatic testing on at risk individuals, linkage analysis, RFLPs, SNP analysis etc). (15%) 
* A discussion to address the following: 
Is the genetic information used to reduce the occurrence of this disorder? In which way(s)? Briefly highlight any ongoing debates about ethical issues in relation to these points.
Are there possible new developments such as gene therapy that may be helpful in the treatment of the disorder? Briefly highlight any ongoing debates about ethical issues in relation to these points.
From the above draw conclusions as to therefore how useful the current genetic information is to (a) sufferers and (b) their families?
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