Tag Archives: science

Science Saturdays: Differences in DNA – what makes you, you?

In May, Birkbeck’s School of Science held ‘Science Saturdays’, a programme of free online talks every Saturday, open to a global audience. In this blog, Maria Pitharouli, Birkbeck and UCL PhD student, gives her account of the talk she attended by Dr Emma Meaburn, Reader in Human Genetics, about DNA and its role in shaping each person’s development, behaviours, and health.

‘What makes us who we are?’, is a question that has occupied Dr Emma Meaburn since she was a teenager and it is what led her towards becoming a Behavioural Geneticist, as she explained in her recent talk.

Behavioural genetics is focused on the influence of nature (our genes) and nurture (the environment we are exposed to during our lives) on the differences we can observe or measure amongst people. But to understand the effect of nature and nurture we need to understand first what DNA is and how big a role it plays in our day-to-day lives.

The human genome is contained in the nucleus of every cell in our bodies, and it is the complete set of genetic instructions: a sequence of approximately 3 billion of the DNA bases adenine (A), cytosine (C), guanine (G) and thymine (T). Each cell has two copies of these genetic instructions, one inherited from the mother and one from the father. Most of the genetic code is identical amongst humans and follows a specific order. Dr Meaburn talked about why this similarity in the genetic code between people is so important; the sequence of A’s, C’s, G’s and T’s acts as a guide for our cells so they can function properly and create all the components needed to sustain life.

Image 1. The letter “V” indicates the genetic variants scattered throughout the human genome. Source: Polygenic Risk Scores (genome.gov)

However, despite this similarity there are parts of the DNA code that differ between people, called genetic variants (image 1), and they are scattered throughout the human genome. These DNA differences are what really interests Dr Meaburn as they might explain some of the variation in how we think, feel, and act, or why some of us develop health conditions. In the talk, Dr Meaburn described how behavioural genetic research has shown that there isn’t a single gene (or DNA difference) that can explain differences in human intelligence, personality, or susceptibly to mental health conditions such as depression. These complex (or multifactorial) traits and disorders are the result of lots (and lots!) of common genetic variants in combination with our different life experiences.

The talk then described a method called genome-wide association studies (or ‘GWAS’) that have been hugely successful in identifying the specific DNA differences that relate to complex human behaviours and traits.  The GWAS approach requires very large numbers of research participants – typically tens of thousands of people – who donate both DNA and information about their health and behaviours. Interestingly, while GWAS have identified many of the genetic variants that contribute to differences in human health and behaviour, Dr Meaburn emphasised that each of the variants found explains just a tiny amount of the differences we see amongst people. As a result, we now know that complex mental health conditions such as depression are polygenic; any single genetic variant does not cause the disorder, rather many of them together can increase or decrease one’s predisposition to depression.

Dr Meaburn went on to describe how polygenic scores – the sum of the effect of all genetic variants that can either increase or decrease risk to develop a disorder – could potentially be useful for identifying individuals more (or less) susceptible to a wide range of human behaviours or health outcomes (image 2).  However, it is important to keep in mind that polygenic scores will never be a ‘crystal ball’, as while DNA differences are important, we know that our environment and life experiences matter too.

Image 2. Polygenic scores can help us identify someone’s genetic likelihood to develop a specific disorder or trait. Source: Polygenic Risk Scores (genome.gov)

The take home message from the talk is that the DNA sequence you have inherited from your parents is an important piece of the puzzle in explaining what makes you, you. Your own unique DNA code plays a role in shaping your development and nudging your health in certain directions.  In the last ten years GWAS research has shown us which DNA variants are important, and the real challenge for the next ten years is understanding how they lead to differences between us in how our brains work, and how we interact with others and the wider world around us.

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“Doing this degree has completely changed my expectations of what I can do in the future”

Isabella Ghawi faced challenges during studying, including a brain tumour diagnosis, epilepsy and dyslexia. With the help of Birkbeck’s Disability Department and her steely determination, Isabella founded the Birkbeck Biological society and graduated in November with a BSc Biomedicine degree. Here is her #BBKgrad story.

Isabella Ghawi

What made you decide to study at Birkbeck?

I did a lot of research because I left school quite suddenly without A levels as I started to have epileptic seizures.  After a long time, I decided I wanted to go back to university and study to be a neurophysiologist after my experience of working in a hospital.

I was searching for a good access to university course and chose Birkbeck as it had the best one. Unlike all the other places I looked at, it taught actual science. I knew that I wouldn’t just come out with a piece of paper, but I’d actually come out with real knowledge. After undertaking the Higher Education Introductory Course I decided to continue at Birkbeck to study a BSc in Biomedicine.

Did you face any challenges during your time studying? How did you overcome them?

I had a huge challenge in my first year. I already had epilepsy from the age of 18 and I had dyslexia. On top of that in my first year of biomedicine, I was diagnosed with a most likely cancerous brain tumour which meant I had to have a serious operation.

I overcame it, with the help of my family, my church and the people around me, but also with the support of Birkbeck – I’m especially grateful for the help and support I received from Dick Rayne, Mark Pimm and Jackie Saunder and many others. It was a learning curve for all of us, as we implemented new changes that were best for me at the time. So, with the help of all those people, I was able to continue and not just able to continue, but to really excel and exceed my expectations despite many difficulties.

Did you receive any additional College support whilst at Birkbeck and if so, how did this help you?

Birkbeck staff were a huge driving force because they were very understanding and supportive. The lecturers and the administration staff really helped me to develop resilience within myself and I kept going because they were so supportive. I also received a lot of help from the disability team. I received extra training on my computer with programmes that helped me with my dyslexia. There were a lot of assistive technologies that I was given, as well as a support tutor who was great and again, a real emotional rock. I also received a note taker and had extra time in exams which was helpful. Unfortunately, in a couple of my exams I had seizures, which were quite distressing. As a result, towards the end of my studies my exams were split, and I did them in smaller chunks which was extremely helpful. By the time it got to the last year, we had figured out what worked best.

What do you hope to achieve in the future?

Doing this degree has completely changed my expectations of what I can do in the future. Before doing this degree, I didn’t think I would be able to do much, but it’s made me really open to new opportunities. I really hope to continue to work in research, which is something I’d never dreamed of. I had never really done any lab work before this degree, but by the end of three years I was leaving the lab sessions thinking that if I could go back to the lab every day for the rest of my life, I’d be a very happy person. So, I would really love to work in a scientific laboratory.

This degree has also made me think that maybe there could be other things out there that I would be good at that I haven’t experienced yet. Now I’m looking for a job, hopefully in research, to gain more experience and then perhaps go back and do a PhD when I have more experience in the field, because I feel I really need more hands-on experience.

What advice would you give to someone who is thinking of studying at Birkbeck?

I would say go for it and give it a try, you will surprise yourself with what you can achieve. If you have any doubts or problems, there is so much help and support out there. I would also strongly suggest being open about your difficulties from the beginning with the staff.  If you do have a busy life and lot to cope with, for example if you have children, work commitments, health problems or caring commitments, the opportunity of doing part-time is well worth taking.

Studying at Birkbeck is a truly great experience, I would strongly recommend others go for it and give it a try. I don’t think you’d regret it, I certainly haven’t.

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Combining postgraduate study with raising six children

Bioinformatics graduate Rudo Supple returned to education after spending 15 years out of the workplace while she raised her children.

After 15 years spent raising her six children, Rudo Supple felt ready for a new challenge. Having studied Economics and Japanese as an undergraduate, Rudo couldn’t shake the feeling that maybe she’d made the wrong choice about what to study at A-level, and decided to look into going back to university to study science.

She initially applied to study medical statistics at Birkbeck, but while looking up information on the types of career that medical statistics graduates went onto she came across the term ‘bioinformatics’. She recalls: “I had never even heard of bioinformatics, but then I discovered that Birkbeck offered a Master’s in it and when I looked at the course content I realised that this was the right programme for me.”

Despite having no background in either biological sciences or computer science, Rudo enrolled on the MSc Bioinformatics with Systems Biology after talking to the course admissions tutor.

“When I started the course my aim was just to pass. I wanted to challenge myself academically after so many years without an academic challenge but I really didn’t know whether I would be able to keep up with the subject material without having prior knowledge.

“It was incredibly daunting to come back into education after so long. Even the one area that I was vaguely familiar with from my undergraduate studies – statistics – had changed enormously, and whereas I had been used to looking things up in tables, we were now running them through computational models.”

While many part-time students at Birkbeck are combining their study with work and therefore need to study in the evenings, for Rudo, who was commuting to Birkbeck from Oxford, it made sense to follow the daytime modules from the full-time programme and study from 2pm-5pm – which meant that she could be back in Oxford for the children’s bedtimes.

Rudo’s children were initially sceptical about the idea of her going to university – something they saw as ‘for young people’ and which was only a few years away for her eldest son himself. “I think that now my kids just see study as ‘what mum does’. I’m pleased to have modelled for them the idea that your education doesn’t stop when you leave school or university as a young person – that there’s no time limit on learning.”

After receiving a merit in her first module, the doubts about whether she’d be able to complete the programme slowly began to recede for Rudo. She says: “You pass one module, then another, and after a while you realise that it’s not going too badly. But at the end of the first year, when my tutor said that I could potentially get a distinction I just laughed. I had an excellent supervisor for my project and in the end I did go on to get a distinction overall.”

Not only did Rudo begin to believe that she was capable of passing the course at Birkbeck, she began thinking about a PhD as well. She says: “Commuting to Birkbeck two afternoons a week was manageable but I knew that it would be easier for me if I could do my PhD closer to where I live. The academic standard at Birkbeck was so high that I knew that if I was good enough to do a PhD there, then I would be good enough to do one at Oxford, and so that is where I applied.”

Now in the first year of her PhD at Oxford, Rudo has no regrets about taking a chance on a brand new subject at Birkbeck. She says: “I’m so grateful to all of the tutors and my supervisors at Birkbeck. They never minded when I asked a thousand questions about everything – and actually liked it when students asked questions as it showed how engaged we were with the subject matter.

“I couldn’t have done it without the help of my husband, mother and friends who looked after the kids at weekends and evenings when I was studying. They all knew how important this was to me and supported me throughout.

“In my dissertation I wrote inside the cover page that you should follow your dreams. If you have support – from a good university and from your family – then nothing is too outrageous and you should follow your most fantastic dreams – there is no limit. I’m so proud of what I’ve achieved.”

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Arts Week 2017: Science as Spectacle

A Magic Lantern Slide Lecture on St. Peter's Basilica, 1897  An illustration from the December 1897 catalogue of T. H. McAllister Company, Manufacturing Opticians, New York

A Magic Lantern Slide Lecture on St. Peter’s Basilica, 1897
An illustration from the December 1897 catalogue of T. H. McAllister Company, Manufacturing Opticians, New York

Ushered into the dark cinema of Birkbeck, the curious spectators witnessed Science as Spectacle. Over an hour and a half on the evening of Tuesday 19th May 2017, Jeremy Brooker, Chairman of the Magic Lantern Society, demonstrated the workings of the magic lantern.

He began by setting the scene with a brief history of the import of the magic lantern on society. He told the story of Faraday’s presentation in January 1846 to the Royal Institute and was not shy when it came to making it clear that, actually, technologically, what Faraday was displaying was nothing particularly impressive given the popular magic lantern shows taking place at the time.

And this was the crux of the presentation: the lantern’s dual purpose for both entertainment and research. The population were now able to see “actual experiments happening in real time before their eyes.” This capability of the magic lantern was displayed in an archive film of thawing ice. Now, through the magnification properties of the magic lantern, one could peer over the shoulder of an experimenter and see what was being done. Jeremy revealed that people of the time were particularly disturbed upon finding out what was living in their drinking water.

But at the same time, the magic lantern was also being used to show things that were not there. The more familiar history of the magic lantern is for its use in phantasmagoria shows, creating ghostly effects that titillated and terrified the audience. Jeremy and partner Caroline displayed the abilities of the magic lantern as entertainment and Birkbeck cinema witnessed popular magic lantern displays of distant lands, changing seasons and, yes, a vanishing ghost and skeleton or two.

What was remarkable about the display was how science and entertainment were so interlinked. The projectionists at the time realised the capabilities of their tool to both entertain and educate and so, for a time, the two went hand-in-hand. After we were shown the layers of matter that make up the human body, we were rewarded with a skeleton jumping a skipping rope. Similarly, whilst we admired the beautiful vistas of icy landscapes under the rippling Aurora Borealis we also learned something about the geography of distant lands. As the precursor to film and demonstration, the magic lantern projectionists knew that both entertainment and education were of equal importance, making the learning engaging and the enjoyment worthwhile, a lesson that is all too often forgotten on both sides today.

This is not to mention the technical ability of the projectionists themselves. Layering slides via three projectors, working the mechanics of the individual slides and managing the transitions required an artistry and practice that was as entertaining and impressive as anything appearing on the screen.

Ultimately, on Tuesday night we were shown not how the machine worked technically but what the magic lantern did for Victorian society. By not dwelling on the technicalities it remains a medium that is exciting, mysterious and indeed a little magical.

Jonathan Parr is studying jointly at Birkbeck and RADA on the Text and Performance MA

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