In World War 11 the RAF hired a statistician called Abraham Wald to analyse planes returning from air combat. Metal was scarce, and the idea was to only re-inforce the most vulnerable parts of the planes. The parts of returning aircraft that made it home full of bullets must be the toughest parts, Wald reasoned, and so a decision was made not to re-inforce these areas, but to use the scarce metal to strenghten the other parts of the aircraft.

Dr Aoife McLysaght, geneticist at TCD, understands Wald’s logic and applies it to her own gene hunting efforts. Dr McLysaght  is identifying genes that are most sensitive to being hit with ‘bullets’ – which in genetic terms means being hit with random gene mutations. This is important because it is known that in certain sensitive genes – right across all living species – having too many copies of a particular gene, or too few, can result in a disease.

School

Dubliner, Aoife, attended her local national school before attending St Andrew’s College, on Booterstown Avenue. She recalled that she although there wasn’t too much science taught in primary school, she was very interested and engaged by such science as was on offer. In particular, Aoife remembers presenting a science project with her best friend in sixth class, which involved explaining aspects of the weather to other pupils and teachers.

“I had fun little demonstrations, to do with the power of wind and air,” Aoife recalled. “We had a plastic bag with a book on top of it. We got the opening of the bag and blew into it and showed that it would lift the book. We also had a glass milk bottle, with a baloon on top that was not inflated. We placed the bottle into a jug of really hot water, and the air would expand and inflate the baloon. I remember have loads of fun doing that,” she said.

Her interest in science was strongly established by the time she attended St Andrews. She remembers that she was always engaged with science, and actively listened to the teachers, so that information went in, making life much easier when it came to passing the exams. When the leaving certificate rolled around Aoife chose to do Biology and Chemistry, but not Physics. She believes that was a mistake in hindsight as she always enjoyed physics.

Instead she chose to study geography, because it was regarded as a science subject by the universities. This was a mistake, she says now, because while she enjoyed physical geography – such as explanations of why earthquakes occur – she did not at all like social geography, which for her involved too much memorising of lots of very dull information. Her experience has told her in the years since, that people will succeed at what they enjoy. That was proven when her geography result proved her worst leaving certificate result.

At St. Andrews, she was inspired by the efforts of a great teacher, Dr Nick Frewin, a PhD holder, who taught her science and biology. “He was just really good,” recalled Aoife. “He spent a lot of time clearly explaining things, had well planned lessons, and there was a lot in it beyond the course. He was well liked enough for people to write him letters when he was retiring. When I did genetics, there was a class of 12 people, and three of those have been his [Dr Frewin] students, and [in] the year behind me we had another one,” said Aoife.

The role of the teacher is crucial, says Aoife, and she cited the example of the many people that say they can’t do maths. “The number of people who think they can’t do maths is too high – there are a lot of people that have been put off maths. They stop trying because they think they can’t do maths. The students underestimate their own abilities. Students should allowed have a bit of fun with maths. Games and puzzles for example,” said Aoife.

Recently, Aoife recieved a prestigious European Research Council grant – which are only given to the top tier of scientists in Europe – to try and identify disease causing genes. The aim she said is identify those genes that are vulnerable to changes in quantity. This might involve a reduction in the copies of genes, or too many copies. There is a certain amount of variation in the number of copies of genes between people, and it’s common. However, in some people in certain genes variations in gene quantities increase disease vulnerability.

This is an evolutionary approach to genetics, explained Aoife. The goal is to see which genes have tolerated changes in amount – high or low – over evolutionary time and which have not. The identification of those genes that have proven intolerant to change over evolution can provide a key to which genes are linked to disease today, the reasoning goes. “There is variation in [[gene] copies, because mutations happen,” explained Aoife. “DNA is a chemical that copies itself in cell division, and this is an easy mistake that happens a lot.”

Once the sensitive genes that have been linked to disease have been clearly identified, then it becomes possible to develop better and more precise ways to diagnose disease. Following on from that, if there are improved methods to diagnose disease at an earlier stage, then it should become possible for scientists to develop better disease treatments and therapies.

Communicator

Aoife is also one of the best scientist-communicators in Ireland, and is regularly invited to speak in schools and at public lectures about her work and its implications for society. She believes that it is important that some scientists communicate with the public, but she also acknowledges that although she enjoys this activity, not every scientist will feel the same.

“It is important that some of us do it, and there is support for that. I mean that it is recognised as a valid part of the job. A valid activity, that it is respected. Sometimes people might think it is a trivial activity. I don’t think that. I see science as part of our culture, we should all have access to that. A lot of people love music, but don’t have the intention of being a musician. It’s the same with science – people should have access to it,” she said.

For Aoife, science is about the ability to learn, to deduce, to understand something, even when it is not visible to the naked eye. It involves being able to think long-term, beyond our own lives. Science is exciting, interesting, dynamic, but it is a big mistake to try and push it onto people. It is also a mistake, she believes, for the Irish government, or any government to get too closely involved in deciding how funding for science should be spent. It would be better to fund the best people than to fund certain areas, she said.

She has some advice for young people that might be considering science as a career. “When I was young, I didn’t know you could be a scientist, I didn’t know any scientists. I didn’t know what I would end up being, if I studied science. My mum said to me, do what you enjoy the the job will follow. It’s very optimistic, but I kind of subscribe to that,” she said.

This article was first published in Science Spin, May-June 2013 issue.