Variation In Chromosome Number, Its Effects, And Its Impact On Disease
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The overall aim is to consider variation in chromosome number, its effects, and its impact on disease. Consider the difference in chromosome number and genome sizes between organisms in relation to the complexity of these organisms. What impact does this have on gene dosage and why might this be important in disease? Finally, consider chromosomal disorders in the clinical setting and how might chromosomal anomalies arise. Students will be expected to demonstrate they have engaged with the scientific literature, and have an understanding of the key concepts expected at level 4.
The written format does not need to have a fixed structure but should resemble a scientific review. Typically, a review has a short ‘abstract’ (approximately 250 words), followed by Introduction/background and a conclusion. Sub-headings can be used to make it easier for the reader to follow. It is expected the written style should be clear, flow well, and follow the conventions of scientific writing. A good piece of scientific writing would include a range of recent and reputable references (minimum 20). Figures and tables also help in conveying the message and add structure. Students are encouraged to formulate their own opinions, to compare relevant studies, to identify perceived gaps in knowledge, identify any perceived inconsistencies or deficiencies in the literature, and conclude the essay pointing towards future directions. Standard genetic textbooks, including those recommended on the reading list, should provide a good basis for this assignment. Preferably, you will also refer to published scientific articles. Numerous medical journals exist describing genetic diseases.
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