Spinal Muscular Atrophy Assessment
- Country :
Australia
Task
For this assessment task, you will be asked to prepare a presentation about a genetic disease which will be peer-assessed. This task is designed to allow students to develop literature review and presentation skills as well as critical thinking skills and the art of giving effective feedback.
Students will give a 7-8 minute presentation via Zoom. Depending on the number of students, groups of 4-5 will be required to present on an allocated day and time
Your future career is likely to be in allied health (in the broadest sense of the word) and understanding the role of genetics in human disease has become increasingly more important over the last years and will become more important in the near future. The vast majority of human diseases are complex, meaning that they involve variations in many genes and complex interaction with other factors like the environment. However, to get a good understanding of the role of genetics in human disease it is ideal to start with a monogenic human disease that is inherited in Mendelian fashion. You will be allocated a monogenic disease (with the opportunity to submit your preference to your lecturer) from the list below:
- Cystic fibrosis
- Familial hypercholesterolemia
- Phenylketonuria
- Amyotrophic lateral sclerosis
- Spinal muscular atrophy
Your presentation should consist of 6-10 slides (use PowerPoint):
Slide 1
is an introduction to the disease
Slides 2 and 3
will cover the pathophysiology of the disease
Slides 4 and 5
will cover the genetics of the disease (here you would mention the Inheritance pattern, the chromosome gene location, common mutations and their effects on phenotype, size of the gene (base pairs), number of introns/exons, size of mature mRNA and final protein product, possible role of modifier genes, potential expression differences and the effect of environment on expression).
Slides 6 and 7
should have a strong focus on the genetic diagnosis. When discussing the genetic technology (e.g. PCR or next generation sequencing), it can be quite technical and detailed. Your task is to succinctly explain this in simpler layman's (educated in another field) terms to demonstrate your understanding of the process and technology.
Slides 8 and 9
should have some discussion on current treatment and possible genetic treatment. This could include issues like prenatal diagnosis, population screening or family screening. It also should discuss indicators for genetic testing.
Slide 10
is a brief conclusion and your reference list in APA 7 format. It is expected that you would have about 10 high quality peer reviewed journal articles.