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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…
Hi everyone, I’m here to tell you that the asthma drug Singulair was developed my Merck Frosst in none other than the Canadian city of Montreal! I thought you’d all like to know this piece of trivia. Also, the mont in Montelukast, the drug’s generic name, is a little homage to the city. How about that?
There’s actually a large billboard outside the Merck building in Montreal underlining this fact.
It was tough! The actual content part was pretty good and I’m happy with the way I presented it. I got some good questions too, which means people were listening.
But talking for ten minutes while you are having trouble breathing is hard. I was really struggling. I had to stop talking almost at every slide and take a few breaths because I wasn’t able to breathe out while I was talking and air was just piling up in my lungs. Yuck, not a nice feeling. And I was trying to remain composed which was also very difficult. I have a feeling people just thought I was very nervous, which I wasn’t really.
Afterward, my supervisor gave me a thumbs up and said teasingly ”remembering to breathe is always a good idear Danielle” (he’s English). I told him it wasn’t that I didn’t remember so much as I couldn’t do it!
I would just like to crash for a bit now!!
Ever wonder how asthma is different among men and women or boys and girls? Research has shown that there are differences in incidence and also in age of presentation among the 2 groups.
In children, asthma is more prevalent among boys and boys are more likely to have severe asthma. Interestingly, boys are also more likely to “outgrow” their asthma, or experience a significant improvement in symptoms. The literature calls it a “reversal of the sex ratio around puberty”. After puberty, girls and women are much more likely to have asthma and many studies show that they are also more likely to be hospitalised for it. Can you say hormones anyone??
This study says that testosterone is an immunosuppressant, which means it may decrease the asthmatic immunological response. Likewise, female sex hormones are proinflammatory, which means that they may encourage inflammation in the lungs as well. (This makes me think of the staggering gender disparity in lupus, another inflammatory disease). So, while much more research needs to be done here, I think it gives some interesting insight to researchers.
Personally, I can vouch for this. I’m not one for pigeon-holing and I know there are countless exceptions to every generalization, but for me and my asthma, it fits. I was diagnosed at 10 though I had symptoms some time before that. At 15 I experienced significant worsening of my asthma and it’s been steadily worsening since that age. I know of many environmental factors which have contributed to it, so those must also be taken into account too of course. Like a few other women I’ve talked to, I can feel my asthma symptoms fluctuating with my hormone levels with ridiculous precision.
I found this very interesting because it rings very true with my asthma. But let’s not forget how multifactorial this disease it, and that the cause of it isn’t really understood. We do know that susceptibility to develop asthma is mainly inherited, through interaction of a number of genes. These genes are heavily influenced by environment, such as exposure to vehicle emissions and second-hand smoke. And finally there other factors such as gender and race which influence the probability of developing asthma. Some of us just hit a bad combination!!
I learned today that I will be getting authorship on the paper that will come out on my research project!! Of course it’s totally appropriate because I am doing all of the lab work and a good deal of the analysis, but I just can’t believe I’m going to be a published researcher at 19! Eeeeeeeeeee!
Oh no, here she goes, rambling on about genetics again. As I was doing research this summer for my job, I stumbled upon a few articles which propose that responsivity to short-acting Beta 2 agonists has a genetic component. I of course found this fascinating so I started to surf PubMed looking for more articles which distracted me from my actual work. But I digress…
This area of research, called pharmacogenetics, is a relatively new one. Probably the best known application is for resistance and hypersensitivity toWarfarin, an anticoagulant. Mutations on the genes VKORC1 and CYP2C9 have been shown to influence responsivity to this drug (click here and here). It’s easy to see the benefits of individualised dosage of Warfarin based on genetic testing, especially given the extreme consequences of alternate genotypes.
ADRB2 is the gene which codes for the Beta-2 adrenergic receptor which salbutamol (Ventolin) binds to to “do its thing” i.e. dilate the bronchioles and provide quick relief from an asthma attack. Two specific mutations on the gene (at positions 16 and 27) have been shown to decrease sensitivity to Salbutamol as described in this review by Weiss et al.
Sometimes I think I must be resistant to salbutamol, it just takes so much of it for my lungs to open up when I have those crazy attacks. But as my doctor points out, this is probably more due to the fact that my lungs are so shut down that no medication is actually getting to them. Well yeah, that makes sense too.
I’m a wee bit curious about my ADRB2 genotype. Remember though, just because the gene has been identified and a correlation has been established does not mean that any one mutation is the cause of any one phenotype. Correlation does not equal causality! Is individualized treatment based on genetic testing in the cards for asthmatics? I wonder… It’s possible, if a strong enough association between these mutations and decreased drug sensitivity is made, and if the range in phenotype is observed to be wide enough that it’s actually clinically beneficial to do so.
