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This week, results were released on sequencing of the genome of a metastatic cancer tumour!! Not only that, but 32 mutations were found in this tumour, that were not found in a primary tumour. EEeee. This means that it’s starting to be possible to understand what kinds of mutations are causing cancer to spread. All cancers are caused by some form of damage to a cell’s DNA, understanding which kind of damage, and when and why it occurs, is a focal point in cancer research. Sequencing the entire genetic makeup (genome) of any organism used to take years, now we can do it in weeks and the techniques are getting faster all the time.
THANK YOU Kerri, for bringing the article to my attention! I’ve been reading up on it…
To see the news article, click here, to see the abstract for the Nature article, click here. This research took place at the BC Cancer agency research institute.
Regular lung-related posting will resume this afternoon…
OMG! Genomics! Is going to be my favourite class of the whole year! I was looking over the syllabus before class started and could hardly contain my joy. I kid you not, I love this stuff. The prof is an older woman (she had her phD for 20 years before I was even born) but she’s totally up on the biology world.
Cellular physiology was just ok, I think it’ll be a lot of review. I’m thinking of taking an english class instead so that next year isn’t just chock-full of electives. We’ll see, the academic offices are just overflowing at the moment so I may have to wait a day or 2.
Other than that, no news. The lungs have been brilliant the past 2 days, I don’t know what it is, but it’s good. Tomorrow I have micro- and molecular biology, both of which I’m excited for. Hope your week is as fun as mine! (I say this in all seriousness)
I’m breathing much more easily now, hooray for that. This is my last week of work and although I really loved doing research this summer, I’ll be glad to have some time off before school starts. I had a little talk with my supervisor today (who I consider to be brilliant and is a very well-respected researcher) about what I want to do with my career.
I’ve been waffling a bit about that this summer. Because while I’ve wanted to be a doctor for a long long time, I was getting slightly turned off by the arduous admission process and the cost of medical school. I was really intrigued by a career in genetic counselling, which requires an MSc but is a fascinating and quickly growing field. I’m happy to say though, that I am back on track and I’m going full steam ahead for the MD. Deep down I know that I really really want it and I can work hard. The only question is though, because I’m such a sucker for knowledge and because I want to keep my options for research and teaching open, whether I want to do a PhD in conjunction with this. I realize I’m condemned to be a student in perpetuity but if you didn’t notice, it suits me and I like it 
My supervisor told me that I should be aiming high and to just go for it. I’m pretty sure those words were what boosted my confidence so much and you can bet I was grinning hard when I came out of his office. A good day! Hopefully I’ll be able to remember this in December when I’m banging my head against the wall and I’m feeling a little depleted.
Much of what I am working on this summer involves research around the human leukocyte antigen (HLA) genes. These code (as you may have guessed) for the antigens present on cell surfaces and regulate the body’s immune responses. So, it makes sense that there would be an allergic asthma connection. I’m not working on asthma at all, but my project probably would bore you to death so I’m not going there.
Asthma is described as a polygenic condition. This means that many genes affect the manifestation of the disease, as opposed to a single one such as in cystic fibrosis. Further, environmental factors will affect the expression of the genes an individual has inherited. That’s why this thing is so hard to figure out! Over 25 genes have been shown to be associated with asthma and many more are suspected of such.
There are several HLA genes (all on chromosome six if you are wondering) but the ones found to be associated with asthma are HLA-DRB1, HLA-DQA1 and HLA-DQB1. Another cool thing about HLA genes is that they are HUGELY variable (polymorphic), which really isn’t seen anywhere else in the genome. There is a huge number of versions of each gene that it is possible to inherit. What I’m trying to get at here is to give you an idea of all the possible ways a person can inherit a predisposition to asthma and atopy. The possibilities seem endless. And if you couple that with environmental exposure, it’s easy to see how we have this huge asthma spectrum. It’s sort of mind-boggling. The question now is how to we untangle this whole genetic mess? The fact that we have identified some genes is amazing, do you think we will ever get to the point where we can genotype someone and reliably determine what their risk for asthma is?
If you would like to read about this in even more technical terms, see this article.
I love to write about medicine in scientific jargon, but also feel like this type of post might be a bit much. At the same time, I’m paranoid about all the stuff I know I’ve left out. So please just humour me as I try to give my scientific brain a little exercise. Comments, impressions, and feedback are appreciated as well, as always.
