Applied Human Genetics
Description
This assignment is 2 essays of a 1000 words each. The 2 questions are in the document below and will focus heavily on the understanding of applied human genetics. Question 1 focuses on epigenetics while question 2 focuses on gene therapy. There should be 15-20 references per essay, bringing a total of 30-40 references/sources and must be cited within the text.
Marks are awarded as follows:
Introduction (15%). Relevant background information is provided with as little deviation as possible.
Analysis and evidence (55%). A wide array of sources are used and critical evaluation is present with suitable evidence provided.
Coherence (20%). A well planned structure and proper paragraphing is presented. A steady flow of the study is provided.
Communication and Referencing (10%). Proper referencing methods are used (Harvard style). All sources should be cited and referenced.
Question 1 should focus on the mechanisms and understanding pf the disease and also the tests that should be carried out.
Question 2 should focus on the applications of gene therapy in the treatment mentioned as well as the advantages and disadvantages (this is usually liked by the professor marking this essay).
Question1
A child is suspected of having Angelman syndrome. Genetic analysis reveals that she has two wild-type copies of the UBE3A gene. Discuss and evaluate the genetic mechanisms that might lead to her condition and the molecular tests that would be carried out to determine the cause in her case.
1000 words
Question 2
Spinal Muscular Atrophy (SMA) is a rare and invalidating monogenic disease with an incidence of 1 in 10,000 births and a low life expectancy. In March 2021, the NHS approved the use of an in vivo gene replacement therapy treatment for babies diagnosed with SMA up to two years of age, making it available for clinical use. This treatment is administered as a single intravenous injection and does not require any additional dose in the life of the patient, raising hope for a more widespread treatment of this condition in the coming future. Critically discuss the applications of gene therapy in the treatment of SMA and the results obtained in clinical trials, including the advantages and disadvantages of in vivo gene therapy administration
1000 words
