Well done Amy! And well done students! Thanks for all your questions. The last couple of weeks have been challenging, but also very enjoyable. :D
Royal Grammar School, Newcastle-upon-Tyne (1988-1995)
University of Oxford, Biochemistry, (1996-2000); University of Edinburgh, MSc Quantitative Genetics & Genome Analysis, (2000-1); Roslin Institute, PhD Genetics, (2001-5)
Post-doc researcher in statistical genetics, University of Edinburgh, 2005-present
Centre for Cognitive Ageing and Cognitive Epidemiology (CCACE), University of Edinburgh
Favourite thing to do in my job: Knowing something no-one else does. It doesn’t happen (for me) very often, but sometimes, when the experiment has run, or the analysis has completed, there’s the occasional moment, before you tell your colleagues or your boss, when you’re the first person to know something. That’s pretty good.
I look for genes that cause differences in our ability to think, to help fight the decline in thinking ability as we get older.
I’m a statistical geneticist at the Centre for Cognitive Ageing and Cognitive Epdemiology (CCACE) at the University of Edinburgh. At CCACE, we look into factors that cause differences in intelligence and thinking ability, and determine how these factors affect loss of those abilities as we get older. My job is to investigate genetic factors, but there are several other scientists in CCACE, in Edinburgh and beyond, who look at other things that might affect intelligence.
A “statistical geneticist” applies statistical methods to answer genetic questions. The risk of getting most diseases has a genetic component, which means that people with different versions of genes are more likely to develop certain diseases. The degree of genetic influence varies with the disease: diseases like Huntingdon’s disease and Cystic Fibrosis are caused by differences in a single gene, but are relatively rare within the general population. More common (or “complex”) diseases are influenced by many genes that interact with each other and environmental factors that also affect disease risk. Each of these genes will individually have a small effect, so the experiments needs lots of people to take part to detect these effects. Lots of people and lots of measurements means lots of data, which is why we need to use statistics. We can also look at genetic effects on “quantitative traits”. These are things we can measure that are defined by a number (like height, or weight) rather than by a category (“affected” or “unaffected” for a disease). “Intelligence” is one such traits, that we can measure by giving people tests that test their thinking ability.
The main project I’m working on looks at genetic effects on cognitive ageing: that’s the loss of thinking ability as we get older. I’m working with people from the Lothian Birth Cohorts. These are people living in Scotland who were given intelligence tests at age 11, and volunteerd to take similar tests at age 70 or 80. We can use the results of these tests to see how intelligence changes over people’s lives. We’ve also taken DNA samples, so we can look for changes in genes that might effect loss of thinking ability. The type of genetic variation that I’m looking at is called “Copy Number Variation“. Most people have two copies of every gene, one from mum and one from dad, but sometimes the DNA copying mechanism doesn’t work properly, so genes can be deleted or copied lots of times. We can measure how many copies of each gene everyone in the sample has, and compare this to their intelligence score. If we find people with higher intelligence scores have more copies of a particular gene, then it’s likely those genes are involved in how intelligence develops.
Once we’ve located the genes, they can potentially provide targets to develop drugs that will hopefully be able to alleviate some of the worse aspects of loss of thinking ability with old age, and hopefully reduce the risk of developing dementia.
My Typical Day
Analysing data. Reading papers. Writing Papers. Revising papers. Checking email. Drinking coffee. Replying to email. Writing code. Giving talks. Preparing talks. Lecturing. Supervising. Writing code. Eating cake. Attending seminars. Getting the bus between University departments that are miles away from each other. Pick about a dozen of those. Sampled with replacement.
There’s not really any such thing as a “typical” day for a scientist. My working days consist mostly of the activities outlined above, but the amount of time I spend doing each varies from day to day. Outside of work, I’m a big fan of live music, although I don’t get to as many gigs as I used to. I also love walking in the Highlands, which is another good thing about living in Edinburgh – they’re not that far away!
To get a little more specific, I posted to twitter everything I did on one particular day, and compiled it here on Storify:
Monday, May 30th, 2011
What I'd do with the prize money
I think engagement is a lot more effective in person. I’d use the money to develop the work that CCACE has been doing to bring neuroscience into schools. Hopefully, the ones I’ve been talking to.
How would you describe yourself in 3 words?
I’m a Scientist.
What's the best thing you've done in your career?
I’m looking for genes that affect how people think, and how that changes as they get older. I’m specifically looking at the NUMBER of genes people carry. For most genes, we carry two copies – one from mum and one from dad. But sometimes the copying system goes wrong, and we end up with 1 or 0 copies, or sometimes with 3 or more. If this happens with genes that effect intelligence, then we’d expect the gene count to be related to overall scores on intelligence tests. So I’ve been looking at a whole load of genes, and comparing the number to intelligence scores in a sample of over 3,000 volunteers. For most of the genes, we don’t see anything. But I’ve found a couple that look like they might have something to do with intelligence. These are genes that have previously been found to affect people who have schizophrenia and autism. If the findings hold up, it might go some way explaining why people with these diseases have lower than average intelligence.
Were you ever in trouble at school?
Who is your favourite singer or band?
ballboy. I don’t think they’re that well known beyond Edinburgh, but I’m rather fond of them. Although, the answer is subject to change fairly regularly. For an idea of what I’m listening to at any particular moment (literally) check out: http://www.last.fm/user/nailest
What is the most fun thing you've done?
One of the most fun experiences I’ve had was in my gap year between A-levels and Uni. I spent a bit of time travelling and a couple of months working in the rainforest in Indonesia. It was a wonderful place. So full of life!
If you had 3 wishes for yourself what would they be? - be honest!
Job Security. More time. Another wish.
Tell us a joke.
Why did the chicken cross the Mobius Strip? To get to the same side.