Sunday, 28 July 2013

Why you should support Genes for Jeans day: an insight into what goes on in CMRI

OK, I know this post isn't beauty related but it is science related so it still fits in with the blog! I recently received a press release about the charity Jeans for Genes day which raises funds for the Children's Medical Research Institute (CMRI) in Westmead. The reason that I want to tell you a bit more about is CMRI is because I actually did one year of my PhD there so I have a bit of an insight as to what goes on.

On Friday August  2nd 2013, workplaces, schools and streets everywhere will be awash with denim in a united stance against childhood disease. However, this day is more than just an excuse to wear your jeans to work, it is day to raise much needed funds in the fight against childhood disease. One in 20 kids is born in Australia with a genetic disease or birth defect. That is a huge number - 5%. I didn't appreciate how high is number was until I wen through a pregnancy myself. Suddenly, all of these childhood disease that my colleagues had been researching were at the forefront of my mind and growing a human was quite a scary prospect (I was a bit of a neurotic mess with my first pregnancy).

On the Jeans for Genes promotional material they have the following info on where your donations go:
  • $2 will buy enough crucial enzymes to test the blood of one patient for aggressive types of cancers
  • $5 buys a plastic '96-in-one' test tube to screen 96 potential epilepsy drugs at once
  • $10 gives scientists 200 mini test tubes to help discover genes that cause blindness in children. CMRI scientists have already discovered 12.
  • $1000 helps CMRI scientist test a new drug to treat cancer, epilepsy, or other neurological conditions

I thought I might explain these in a bit more detail so that you truly understand where your donations are going. Scientific research costs a LOT of money. All experiments need to be run in at least triplicate to confirm the result.

$2 will buy enough crucial enzymes to test the blood of one patient for aggressive types of cancers
If a Doctor is unsure what is wrong with a patient or suspects cancer, they will collect a blood sample and send it off to be tested for a whole range of potential diseases. Or, if the patient has a lump or a particular area of their body that is causing them trouble, then they will take a biopsy and send this off to be analysed. It is not good enough to come up with a diagnosis of cancer. They need to know exactly what type of cancer it is; whether the cancer is due to a genetic fault; or whether it originated from somewhere else. This is very important when it comes to the treatment approach. Therefore, the blood or tissue biopsy is analysed in a variety of different ways to get a conclusive diagnosis.

$5 buys a plastic '96-in-one' test tube to screen 96 potential epilepsy drugs at once
When scientists do experiments they try to ensure that conditions are identical for each run. The easiest way to do this is on a 96 well plate. By using a plate like the one illustrated below, they are able to test multiple drugs, at once, under the same conditions. They can then compare the results at once and find out instantly which ones are likely to work and which ones won't. Having a plate like this saves a huge amount of time as all the testing can be done on one day, rather than over multiple days if individual test tubes are being used.

When these plates are being manufactured, they have to be done so under extremely strict conditions - the plates have to be completely sterile and uncontaminated. The tests that are done using these plates are extremely sensitive - so sensitive that if the plate were to be contaminated by shed skin cells from someone working in the manufacturing facility it could produce a false result. The strict need for sterile conditions means that these plates are quite expensive - whilst $5 doesn't sound like much, these plates can only be used once and then they need to be thrown out. We would go through hundreds of these.

A 96 well plate

$10 gives scientists 200 mini test tubes to help discover genes that cause blindness in children. CMRI scientists have already discovered 12.
The way scientists discover which genes are responsible for a disease is to screen hundreds of patients with that disease to see if they have a common faulty gene. They also need to screen hundreds of healthy patients to ensure that the faulty gene doesn't occur in people without the disease. When you consider that humans have 20,000-25,000 different genes, that is a lot of tests that need to be run and at times it can be very much like searching for a needle in a haystack. Like I mentioned above, these test tubes have to be completely sterile. I would have easily gone through a few thousand of these little guys during my PhD. Now, when you realise that there are around 100 scientists at CMRI you can imagine just how many of these little tubes they go through.

Mini test tube
Now that you can image how much is spent on the mini test tubes, begin to imagine how much the chemicals cost that we need to put into these tubes. I used bottles of chemicals that contained 8ml of product and cost over $500. I probably used around 200 different chemicals in my various experiments. Now you can begin to imagine just how quickly the costs add up.

$1000 helps CMRI scientist test a new drug to treat cancer, epilepsy, or other neurological conditions
Once the scientists have discovered what causes a disease the next step is to develop a drug to fix the problem. For example, if the cause of a disease is a faulty gene, they will then have to work out what this faulty gene is doing - is it causing cells to send the wrong message to each other; or, in the case of cancer, the faulty cells don't naturally die like normal cells do and instead keep growing and growing until they take over. Once they know what the faulty gene is doing they will develop a drug to stop it. They have to test that the drug does do what it is supposed to and stop the actions of the faulty gene, but they also have to test that is doesn't affect the actions of normal genes - you don't want to stop a faulty gene from doing damage but then also stop a healthy gene from doing its job, thereby creating a new problem.

I haven't even begun to go into the equipment and machinery that is needed at CMRI. During my time at CMRI I did a lot of mass spectrometry work. This is a way of analysing exactly what a sample is made up of. I was looking at the times different proteins appeared during the wound healing process - the aim was that if I could discover when certain proteins were first appearing in a wound and when they were no longer present, you could then know exactly how old that wound was. Below is a picture of a mass spectrometry machine similar to the one I used. These machines cost around $500,000 each. When I was there they had two of these though there may be more now. There were also machines that could analyse different cells (flow cytometers), a whole range of different microscopes (nothing like the ones you used in high school biology - these ones have lasers!) plus many many more pieces of equipment. These all cost tens to hundreds of thousands of dollars each.

Mass spectrometry equipment

A huge variety of research is performed at CMRI. They investigate what causes diseases and what can potentially cure them. Often, when you are doing a scientific experiment, you start off with a theory as to what might be going wrong. But, before you can test you theory, you have to completely understand what should be going on to work out what is falling apart. Just about every discovery then leads to a whole bunch of new questions that need answering. The more you understand the more you realise that you don't know. There are four main areas of research being conducted at CMRI: embryonic development and birth defects, cancer, nerve cell signalling, and gene therapy.

Jeans for Genes Day will be held on Friday August 2nd and this year is the 20th anniversary of the fundraiser. If you can afford to donate, I strongly urge you to support the fundraiser - if you consider that 5% of children in Australia will be born with a genetic disease or birth defect, chances are you will know one of these children. Please look out for people selling pins or collecting donations on Friday 2nd August or get your workmates together to all wear jeans and make an office donation. You can donate directly to the cause here.

I hope this has given you a bit of an insight as to what goes on in CMRI and many other medical research institutes. Scientific research is bloody expensive but when you think of the amazing discoveries that are being made, it is money well spent.