BMS2042: Human Genetics

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).

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.

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]

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:

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

Introduction, Autosomal Inheritance, Sex Linked Inheritance, Extensions to Mendelian Inheritance and mutatiosn (Dr Saw-Hoon Lim)

Population Genetics, Multifactorial Disorders and Risk analysis ( A/Prof Robert Bryson-Richardson)

Diagnostic Testing ( Dr Saw-Hoon Lim)

Non-Mendelian inheritance and Mitochondrial Disorders ( Dr Saw-Hoon Lim)

Developmental Genetics( A/Prof Craig Smith)

Model Organisms and The Human Genome Project( Dr Michelle Dustone)

Genetic Engineering(Professor Colby Zalph)

Human Evolutionary Genetics(Dr Mike McDonald)

Linkage, DNA markers, Sex Chromosomes and Sex determination, Chromosomal Aberrations ( Dr Richard Burke)

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.

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.

None, some sample questions (but it was stressed that those same questions won’t appear on the exam)

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.

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.

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.

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.

4.5 out of 5

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)

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.

– 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.

– Probably one of the more important practical classes since it’s quite important to understand the concepts for your mapping project worth 10%.

– similar to the previous week but this time we are focussing on DNA markers e.g. SNPs rather than whole genes.

– Here we deal with whole chromosomes and possible abnormalities such as down syndrome.

– These practical focuses on how chromosomes may break and rearrange and the possible results in terms of fertility and viable offspring.

– This practical focuses on Bayes analysis and population genetics. This is probably the most interesting and easiest practical.

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.

2018, Semester 2

TBA

Overview
I have mixed feelings about this unit because I haven't really enjoyed "pure" genetics (that is, basic, not-directly medical/clinical genetics theory) in the past, as might be found in VCE biology or early university biology units (such as BIO1011). This is kind of stupid considering one of my majors will be genetics, but c'est la vie - it's not really my choice due to some silly faculty policies regarding my double degree. Unfortunately, a portion of this unit is - understandably, given it starts as an introductory unit - this sort of genetics, incorporating basic cellular and genotype/phenotype principles such as epistasis, population and quantitative genetics etc. etc. My grades during this early part of semester weren't overly great partially because of my shoddy organisational skills and partially because I wasn't really engaged with the material. However, the second half of the unit is pretty much exactly what I wanted the unit to be: a medical/clinical focus on genetics and its impact on cellular and developmental biology (with a huge emphasis on cancer biology) as well as a bit of genetics-based molecular techniques such as gene knockout and model organisms. I enjoyed the second portion of this unit, especially because the assessment switched from labs in the first half that felt somewhat pointless, to more oral-presentation and group-based work (which is my gig, yo).


Lectures:
As usual, my lecture attendance for this unit was fairly poor and this is probably one of the main reasons that I struggled somewhat with early parts of the unit. Essentially ALL assessment in this unit is derived from lectures (which are then consolidated in labs/SGS's), so if I had my time again I'd go to more of them or been more diligent in staying up-to-date with recordings.

I did listen to all the lectures during SWOTVAC/exam period and from what I could tell, the quality of the lecturers and the lectures is very good. Concepts are generally well-explained (the only time I went over recordings multiple times was during Richard Burke's Bayes Analysis lectures, which is fair enough in my (heavily defensive) opinion because that shit's pretty tricky the first few times).

Saw-Hoon is an absolute hero and easily one of the kindest people I've met at university - she spent two hours with me about mid-way through semester going over some assessment where I hadn't done too well and basically getting me back on track with the unit. She takes the first few lectures on introductory genetics, and anyone who's had her as a lecturer in BIO1011/1022 will know that she's a superb and engaging lecturer.

I can't comment too much on A/Prof Warr as lecturer as I only (hastily) listened to her lectures during SWOTVAC. However, her explanations were generally very clear and her material is alright - A/Prof Warr dealt with chromosomal aberration/mutation theory (which I enjoyed) and genetic linkage mapping (which I didn't really enjoy). The second part is very important for the gene mapping project (10% of semester marks), so with the benefit of hindsight I would advise anyone taking this unit to attend these lectures and to do so diligently.

Richard Burke is a great lecturer; his lecture series deals with a pretty wide variety of genetic concepts ranging from quantitative genetics and Bayes Analysis to mitochondrial genetic disorders and behavioural genetics. He also takes some lectures in molecular biological genetic techniques such as DNA fingerprinting and profiling, which is pretty interesting. It was towards the latter part of Dr Burke's lectures that I started to enjoy this unit more, because it was moving away from the "fundamentals" of genetics to more involved, specific and practical areas.

The next set of lectures were taken by Dr Caroline Speed and these were easily my favourite in terms of content. Dr Speed as a lecturer wasn't the best I've had (though not even close to the worst for that matter), but that didn't matter because the content itself was really engaging. I really enjoy medical/clinical developmental and cellular biology, and Dr Speed's lectures focus primarily on cancer and the genetic basis of the disease. This series starts with some introductory lectures on tumour suppressor genes (such as APC etc.), chromosomal translocations and fusion genes (e.g. BCR-ABL) and continues with two lectures consist of an in-depth analysis of colon and breast cancer and the genetic principles behind them (including their origins due to mutations to tumour suppressor genes or (proto-)oncogenes). I'd covered some of this in prior and concurrent DEV units - and thoroughly enjoyed it there - and this was also the case in this unit.

Dr Michelle Dunstone takes the final few lectures on modelling diseases in model organisms and transgenics. I liked these lectures, expect that some parts (mainly the transgenics lecture) felt a bit like a methods paper translated into a lecture. Still, this particular lecture series gets a big thumbs-up from me because it deals with model organisms which are heavily relevant to another of my interests - regenerative medicine.


In-Semester Assessment:
In-semester assessment consisted of 7 labs, 1 SGS on cancer biology and 1 SGS-based oral presentation, a gene linkage mapping project and a mid-sem test. The labs were alright, but I struggled (needlessly, in hindsight) with the latter two. Keeping up-to-date with lectures will make all of these fairly easy.

The labs are as follows:

• Patterns of Inheritance (this one was non-compulsory and acted as a refresher for people who hadn't done any genetics since school (or ever)).
• Extensions to Mendelian Inheritance
• Genetic Linkage Mapping
• Molecular Mapping
• Meiosis and Aneuploidy
• Chromosome Rearrangements
• Population Genetics and Genetic Risk

None are particularly tricky and you work in groups so it's fairly easy to score really well in these. My only real gripe is at the seemingly unending scoring of Drosophila in a couple of the labs. Unlucky me got a vial of 43 flies (most vials were of around 17 flies) to score and I had anaesthetise those fuckers 4 times before I was done. The resulting microscope headache was pretty intense.

The cancer SGS consists of a set of worksheets to be done before class, which are run through in a SGS with a tutor. I enjoyed the theory behind it, but it was ultimately pointless. Everyone came to class with the correct answers and there wasn't really any need for discussion, so the whole thing took less than 45 minutes (instead of the scheduled 3 hours).

The second pseudo-SGS was an group oral presentation on a model organism you'd chosen earlier in semester. My group chose D. rerio - the zebrafish - which is a pretty awesome animal from a biomedical potential perspective. We were given a week to prepare the presentation which was ample time to put together a high-quality presentation. This was great fun for me (though I might be the only person in the university universe who strongly prefers group-work and oral presentation to any other form of assessment lel).

The mid-sem (which took place in week 9 due to the bullshit timing of the mid-sem break) would have been quite simple... if I'd stayed up to date with lectures (you should be noticing a theme at this point). I didn't do particularly well because of this and it would be unfair for me to complain about it because of it. That said, the consensus seemed to be that there really wasn't enough time allocated for it (55 mins for ~13 pages of short-answer questions and a good deal of associated text in the leaders of questions).

The mapping project was annoying because they deliberately gave little instruction or guidance as to how to approach the mapping of your allocated gene. This was compounded by the fact that they expected you to map your gene in a particular way, and even if you got the right answer/map distance for your gene via an alternative method, they took heavy marks off. No me gusta. Hint: USE TRIHYBRID CROSSES or else. This is an assessment that I'd hope is changed in the future. The fact that we were supposed to adapt our results into an essay was also a bit pointless and irritating given that were weren't actually given anything to write about.


Exam:
I was dreading the exam as it covered the entirety of the (considerably-sized) course. However the fact that I'd taken the time during SWOTVAC/exam period between exams to go through the entire course again in detail really, really helped. The exam format was 60-ish MCQs and then 19 short-answer questions. This is a tad misleading as the final two "short answer" questions are basically an essay/long-response question.

Given that I'd actually studied for once, the exam was pretty good and not the utter thunderbastard I'd expected it to be. I did use the whole allocated 3 hours (including reviewing the MCQs once), and I'm unsure as to whether this is because the exam was really, really hefty (which is true) or because I was still a bit sucky at some of the theory (which may have been true).


Final comments:
Decent unit, but one where it's important not to be blasé about the work or attendance. The key to doing well in this unit is just that - attending the lectures and taking some notes. In terms of quality this is a pretty good unit, though there are some areas that can definitely be massively improved upon.

Nope. There was a kind-of sample exam for the SAQ component up on Moodle. Best case scenario would be to do the MasteringGenetics exercises on areas you're uncomfortable with.

3.5-4 out of 5

Yes, with screen capture.

The prescribed textbook is Concepts of Genetics 10th Edition by Klug et al. I didn't get it as I couldn't find an acceptably-priced one. If you struggle with some genetics concepts, then it's probably a good idea to get a copy (which I probably should have done).

Sem 2, 2014