Subject Code/Name: BMS2042 – Human Genetics Workload: 3 x 1 hr lectures per week, 1 x 3 hr practical for the first 7 weeks. 1 x 3hr session for Oral Presentations in the final week.
Assessment: -6 x Problem sets each worth 0.5% (total 3%)
-7 x Pre-lab quizzes (total 1%)
-7 x Practical reports each worth 2% (total (14%)
-Developmental Biology Online Quiz (5%)
-Mapping project (10%)
-Oral Presentation (7%)
-Practical Test (15%)
-End of Semester Exam(45%)
Recorded Lectures: Yes, with screen capture
Past exams available: None, some sample questions (but it was stressed that those same questions won’t appear on the exam)
Textbook Recommendation: Prescribed: Concepts of Genetics 11ed Global Editions (Klug W & Palladino M Spencer C & Cummings M)
Recommended: Developmental Biology 11ed (Gilbert S) and Thompson & Thompson Genetics in Medicine 8ed (Nussbaum R & McInnes R et al)
Lecturer(s):Dr Saw-Hoon Lim (Unit coordinator)
Dr Richard Burke
A/Prof Robert Bryson-Richardson
A/Prof Craig Smith
Dr Michelle Dustone
Professor Colby Zalph
Dr Mike McDonald
Year & Semester of completion: 2018, Semester 2
Rating: 4.5 out of 5
Your Mark/Grade: TBA
Comments: General Thoughts:Overall I thought this was one of the better biomedicine units this semester (compared to BMS2052 and BMS2062) but maybe not as interesting as your 2nd year semester 1 units (BMS2011, BMS2021 and BMS2031). This is definitely a very fair unit and you will get out the effort you put in. However, I do believe it was a heap of content to learn (basically every biomed unit though) so it’s really important to try to stay on top of things throughout the semester. There is no real MST so it is quite easy to fall behind on lectures and revising them. You definitely don’t want to leave too much for SWOTVAC.
Lectures aren’t too important to go to (as long as you watch the recordings). Some lecturers go through the content quite quickly so towards the end of the semester not many students really went to lectures. I think I went to 1-2 lectures a week for the first few weeks but didn’t go to any after week 4. Also, Week 12 doesn’t have lectures, but this is offset by the fact that you have an Oral Presentation to given which takes a bit of time to prepare for (5 minutes speaking time each) in a group of 3 (maybe a few people had to do groups of 2).
My biggest problem with this unit would probably be that there was a heap of minor assessment tasks that aren’t worth too much. For example each problem set was worth 0.5%, each prelab quiz is worth 1/7th of 1% and the practical reports are worth 2%. We had all three of this every week for the first 7 weeks and it gets quite tedious to do it and check over your answers.
I didn’t find the weekly labs (for the first 7 weeks) that great. Often, it would seem that we are doing the same practical each week. You will feel like you are scoring Drosophila every week. Usually, some of the practical questions are possible to complete before the prac class. If this is the case I would highly encourage students to do as much as they can at home and then go in to check stuff with your TA.
The topics of the practical classes are as follows:
Week 1: Patterns of Inheritance – If you have done VCE Biology this will be mostly revision for you with a small addition of learning the chi-square test; so for those that have done VCE Biology it is a great opportunity to use your time to help others who may be struggling in your practical class.
Week 2: Extensions to Mendelian Inheritance – this relates to two lectures in the first and second weeks of semester. You will go over different dominant relationships of genes and gene epistasis something that isn't covered in VCE.
Week 3: Gene Linkage Mapping – Probably one of the more important practical classes since it’s quite important to understand the concepts for your mapping project worth 10%.
Week 4: Genetic Linkage Analysis In Humans Using DNA Markers – similar to the previous week but this time we are focussing on DNA markers e.g. SNPs rather than whole genes.
Week 5: Human aneuploidy – Here we deal with whole chromosomes and possible abnormalities such as down syndrome.
Week 6: Chromosome rearrangements – These practical focuses on how chromosomes may break and rearrange and the possible results in terms of fertility and viable offspring.
Week 7: Population Genetics; Genetic Risk Analysis – This practical focuses on Bayes analysis and population genetics. This is probably the most interesting and easiest practical.
Lectures:Lectures 1-5: Introduction, Autosomal Inheritance, Sex Linked Inheritance, Extensions to Mendelian Inheritance and mutatiosn (Dr Saw-Hoon Lim)
Lectures 6-15: Linkage, DNA markers, Sex Chromosomes and Sex determination, Chromosomal Aberrations ( Dr Richard Burke)
Lectures 16-18: Population Genetics, Multifactorial Disorders and Risk analysis ( A/Prof Robert Bryson-Richardson)
Lectures 19: Diagnostic Testing ( Dr Saw-Hoon Lim)
Lectures 20-21: Non-Mendelian inheritance and Mitochondrial Disorders ( Dr Saw-Hoon Lim)
Lectures 22-24: Developmental Genetics( A/Prof Craig Smith)
Lectures 25-26: Model Organisms and The Human Genome Project( Dr Michelle Dustone)
Lectures 27-28: Genetic Engineering(Professor Colby Zalph)
Lectures 29-31: Human Evolutionary Genetics(Dr Mike McDonald)
Pre-Labs:This assessment was worth a total of 1% (yes this is not a typo) – it consisted of 7 different pre-lab quizzes across 7 weeks. The questions were quite easy, the only problem would be students forgetting to complete the quiz.
Problem Sets:The problem sets were worth a total of 3% for 6 problem sets. Technically we were supposed to be completing them during the practical session but most people would finish them in the previous week so most weeks we were able to leave early. The questions are good exam and practical test preparation but in my opinion were a little more difficult that the other assessments. However, difficulty was not really a problem for the problem sets since if you completed them you would receive the marks since it was all participation. During the practical session your TA would ask “who has finished the problem set?” and then go over and check. They will go through your answers so make sure you do them.
Official answers to the problem sets would be posted on Moodle the following week. It would be good to go over these since it cements how they would want you to answer questions in the bigger assessments tasks (e.g. exam, practical test). This is especially important for knowing how to present answers for the "draw a diagram" questions.
Mapping Project: So, the mapping project is probably the toughest piece of assessment in this unit. It is worth 10% of your total unit grade and generally students didn’t do too well. Even really some good HD average students struggled with it and scored in the P and C range. That is why it’s important to get started on it early so that you have formatted everything well and shown absolutely everything (e.g. crosses, phenotypic ratios, genotypic ratios). Also this is another one of those biomedicine assessments which is heavily impacted by who marks your work. The average mark for this would probably be somewhere in the 60’s. Nearly 60% of students got less than 70.
In this assessment you get assigned a particular trait of the drosophila (I got sepia eye colour) and you need to map it to a chromosome in relation to the two genes that are closet to it. The overall essence of the assessment isn’t too bad but most students loses marks on the small details. E.g. Your abstract must be short and concise. Your introduction needs to properly review the concepts of linkage in genetics – some aspects of this will go beyond the lecture content. The results section is quite a large but, in my opinion, the easiest section to do since if you are able to do one of your crosses correctly you should be able to use that as a template for all your other genetic crosses. It is important that you explain your results too – not just doing the maths. I used excel in order to quickly to the calculations for all the crosses and I would thoroughly recommend this approach as I saw too many students waste time on calculators and double checking their working out.
Practical Reports: This assessment was one of two main assessment tasks for the practicals. We had 7 practical reports due each week across the first 8 weeks of the semester and each one was worth 2%. Don’t’ be fooled by the relatively small % worth of this assessments as sometimes it does take a while to complete the practical report. The actual questions aren’t too hard but there is just a lot of questions to do. The questions were usually MCQs, short answer, drop downs or drawing a diagram.
Practical Test: There was a practical test in week 10 of the semester, as the weighting of this assessment was 15% of the total grade. I don’t think it is a coincidence that this exam condition test is worth more (just by 1 %)than the total of your practical reports. In reality the reason for this assessment is to make sure that students have actually learnt the content of the practicals since some people just got others help for the practical reports. These reports are quite useful in studying for the practical test and I would strongly advise that you complete all of these questions again in preparation of the practical test. The test was all short answer and consisted for 50 marks to do completed in 1 hr with 10 minutes reading time. The test really isn’t too bad, and most people tend to do very well on it.
Developmental Biology Quiz: This was an online practical that really wasn’t a practical. It was just a quiz based on the 3 Developmental biology lectures in week 8. This quiz was worth 5% of the total unit grade and consisted of 25 MCQs, 16 definition questions (drop down) and 4 additional drop down questions relating to a diagram. The Online Quiz was 90 minutes in length. This was a somewhat difficult piece of assessment since there was a lot of working out to do for the MCQs, you couldn’t just look through the slides but you needed to understand the content well. That is why I think students should study the lectures in detail before they attempt the quiz. As for the definition questions some of them were tricky and there was something like 15 options from the drop down tab. Since you could only pick each answer once it was important to select the most correct answer to save up other answers for the more suitable question. The additional 4 drop down questions which were labelling a diagram were quite simple in contrast to the other questions. When we got the results to this quiz there was some glitch that meant that some peoples quiz were not marker and marked wrong for the 16 drop down questions so they decided to remove all those 16 marks from the quiz which was kinda annoying. Some people were quite happy with this since it boosted their scores whilst others obviously quite annoyed (hopefully this doesn’t happen in the following years).
Oral Presentation: During your practical sessions you will be told to form groups of 3 and choose a model organism by writing your name on a sheet at the front of the room. Usually, there is a bit of a fight to get the “best” model organism, so it could be useful to have already formed groups before this, so whilst everyone else is creating groups you can get the topic you want. I worked well with a few others in my practical group, so we were able to form groups quickly and get the mouse model organism. The mouse has heaps you can talk since it is probably the most useful model organism as it is the one that is most closely related to humans. However, even stuff like yeast which may seem random has been vital to learn more about cellular processes. The model organisms available for my year was; the mouse, zebrafish, drosophila (fruit fly), C. elegans (worm) and yeast. The unit coordinator did say it may be important to take notes for the exam. Whilst what you need to know for the exam is in the lectures and lecture slides getting a presentation was quite a nice way of revising and learning for the exam. A couple of questions that were in the exam I was able to recall answers from other students presentations.
As for the actual assessment, in your groups of three one person will focus on the history and Nobel Prizes for this model organism and the other two will comment on the advantages and disadvantages of the organism. Your presentation should total to 15 minutes with each student talking for about 5 minutes. To maximise marks, you shouldn't just stand in front of your slides and talk, you need to be a little creative and have some audience interaction such as asking questions, a small quiz or just be funny in general. Also, most assessors liked it when you had a diagram in your slides and if you explained it to the audience.
Also 20% of your mark for your oral will be asking other groups about their oral presentation and answering questions from the audience. Just make sure you have a decent holistic understanding of your organism, so you aren’t blindsided by any questions. In general students were quite nice in the scope of their questioning. As for asking questions, I would take a few notes during the other groups presentation and see what interested me and tried to get them to expand on one of those concepts.
Unlike other group assignments the Oral Presentation involves some group work but you are marked on your own work so don’t worry if you get put into a bad group since it is your slides and presentation that determines 100% of your mark.
Exam: The end of semester examination is worth 45% of your final grade. This exam is a total of 120 marks which consisted for 62 MCQs (worth 60 marks) and 20 Short answer questions (and parts within these SAQs worth a total of 60 marks). This exam was 2 hours in length and you get 10 minutes reading time.
The short answer questions were quite varied in how they were assessed – there were some fill in the blank questions which needed really specific terms, drawing diagrams and also some “normal” short answer questions.
I thought the exam was a decent difficulty and didn’t test anything outside of the scope of the course. The difficulty arises due to the volume of content we needed to know in detail. We had 31 lectures which at times were quite dense, however a lot of lectures had some “questions you should be able to answer” at the end and a few of them came up on the exams. I would definitely recommend students to have set answers for those questions since those really are the main concepts of the course.
As for the spread of assessed content I would say it was about right for the most part. Talking to other students their was a similar sentiment that the exam was of fair difficulty so you will definitely be rewarded if you put in effort through the semester.
Final Thoughts:This is definitely one of my favorite units so far at university. Although, it is extremely content heavy and some assessments may seem tedious the concepts you learn can be quite interesting - especially stuff like multi factorial genetic disorders but to get to this stage you need a solid understanding fo the basics. The unit is run extremely well run and the lectures are a lot better than most units in terms of engaging the students.[/list]