Louise Walker

Those of you who live in the UK will by now be unable to move without seeing some reference to the looming election. This year’s ballot results are thought to be amongst the most contentious in recent history. The hot-button issues on the agenda include the NHS, immigration and taxes. But what policies do each of the parties contending for seats in Parliament have regarding science and science funding?

Well, if you look at the key pledges in their manifestos, the answer is “not a lot”. The BBC has listed the top-line issues from the manifestos for many of the parties, including the five biggest UK-wide parties –  Conservative, Labour, the Liberal Democrats, UKIP and the Green Party. A quick search of any of these top-line topics does not pick out science or research. Whilst some parties may address the issue of science and science funding in their full manifesto, none of them appear to be campaigning on this issue.

The closest thing any party regularly speaks about with regards to scientific policy is the environment. This BBC breakdown shows what each of the parties pledge with regards to the environment, with a particular focus on climate change. The parties also have stances on education, although many of the key points focus on primary and secondary school education alongside university issues such as tuition fees. However, they don’t tend to look further into postgraduate education such as master’s and PhD degrees. Only UKIP and the Welsh party Plaid Cymru make any reference to Science, Technology, Engineering and Maths (STEM) degrees in these at-a-glance manifestos. UKIP pledge to scrap tuition fees for those taking a STEM degree as long as they stay in the UK and pay UK taxes for five years after graduation. Plaid Cymru also offer support to STEM students who remain in Wales to study.

But does it matter that science is not included as part of the key election pledges? Surely science funding and postgraduate research is not as important to the country as the NHS, national security and welfare? Maybe not, but there are some arguments as to why it should be given a little bit more focus.

Firstly, a lot of science undertaken in this country is funded directly by the government. According to Research Councils UK, the combined spend of each of the government-funded research councils was about £2.8 bn on research in 2013-2014. Most of the remaining research expenditure comes from charities. Indeed, data released by the Association of Medical Research Charities in 2013 shows that the government spend on medical research was about £1.7 bn (split between the Medical Research Council and National Institutes for Health Research) while medical research charities spent nearly £1.3 bn in the same period.

Also, many of the issues at the heart of 2015’s manifestos are in some way related to science and research. The most obvious of these being healthcare, as medical research is responsible for finding causes and cures for a huge number of different conditions. This includes some topics that are very high on many party agendas, including cancer, dementia and mental health. Other issues include climate change, specifically policies on the controversial topic of alternative energy sources, with opinions varying wildly from different parties regarding fracking and nuclear power. Animal welfare is also high on several party manifestos, most notably the Green Party, who are aiming for a reduction of the use of animals in research.

Some of the parties’ other policies could also have an indirect impact on science research and education. For example, UKIP’s plan to remove tuition fees for STEM graduates who stay in the country for five years after their degree ends may impact on people who intend on doing further study abroad. Talented graduates seeking further training abroad is not necessarily a bad thing; they will often gain expertise in new techniques, which they can then apply to research in the UK when they return. The Green Party’s policies on Genetically Modified Organisms (GMOs) and animal welfare would have a large impact on the use of these techniques in research. There have also been discussions about what would happen to science and research in an independent Scotland, which is a key aim of the Scottish National Party (SNP).

The science policy group ‘the Campaign for Science and Engineering (CaSE)’ wrote to several party leaders, to outline various policies regarding science in the UK. Amongst their requests were “[a] boost in government and business investment in UK research” and  “[ensuring] that the UK has a diverse pool of talented people … to drive our future scientific success”. Whilst each of the leaders replied to the letter, few appear to have translated the letter’s messages into their manifestos, at least not as a high priority. An exception is the Green Party, who directly reference a pledge to “double public spending on research in the next ten years”, although this does have caveats, as discussed above. An analysis by CaSE suggests that UK government expenditure on Research and Development as a proportion of GDP has been decreasing since 2003 and that this is causing the UK to lag behind other countries with regards to scientific output.

It would be foolish to expect that science funding and policy would be the key part of any manifesto for a general election. However, it is slightly disheartening to see that none of the major parties are focusing strongly on something that is at the heart of so many of their policies. Whoever ends up in government in May, the hope is that they continue to recognise the strength of scientific research in the UK and allow for it to continue and flourish.

For a look at the key pledges in the manifestos of each party, please see the BBC website.

Post by: Louise Walker

Disclosure statement: I am employed by a charity that funds medical research. The views represented here are my own and not that of my employer.

Australia is home to many interesting phenomena, amongst them its weird and wonderful wildlife. 86% of plants, 84% of mammals and 45% of birds found in Australia are not seen anywhere else in the world.

Australia became separated from the rest of the world when it broke away from Antarctica between 85 and 30 million years ago. The isolation of Australia, combined with its harsh, arid climate has allowed for the evolution of unique species, each filling a particular ecological niche.

Australia’s unique flora and fauna make it one of most fascinating places in the world to biology. The following is a highly scientific* ranking of some of the extraordinary creatures found in Australia, and why they are fascinating to science**.

#5 : The Kangaroo

Kangaroos are marsupials, meaning that the females have a pouch in which they will rear the baby kangaroo (joey). Marsupials are also found in North and South America, but are most abundant in Australia.

Famous for using their very strong hind legs to bounce across the Australian plains, the kangaroo and its smaller relative the wallaby use this bouncing to travel great distances, allowing them to survive in the harsh desert conditions of their home country.

There are many different species of kangaroo. The largest, the Red Kangaroo, can grow up to 6 ft 7 in tall.

There’s a persistent rumour that kangaroos are so named because the first Western explorers asked the native Aborigines what those bouncing things were, and the Aborigine replied with their word for “I don’t know”, this being “Can-ga-roo”. However, this is not true, the word “kangaroo” actually derives from “gangurru”, the native word for a Grey Kangaroo.

#4 : The Koala

Another famous Aussie native, the koala is found on the east coast. Despite appearances and the fact that it is sometimes called a “koala bear”, it is not a bear at all. It is a marsupial and, like the kangaroo, rears its young (also called a joey) in a pouch.

Koalas famously subsist on nothing but eucalyptus leaves which makes them very slow and lazy. Some people believe that the eucalyptus has a narcotic-like effect on the koalas, a bit like being stoned. But the koalas’ sedentary lifestyle is actually due to a lack of nutrition in its diet leaves; meaning that digestion takes up a lot of energy leaving very little left over for things like moving. With regard to its picky eating habits, the koala may seem a little like its non-cousin the panda, in that they both spend all day eating something which isn’t actually very nutritious. The major difference is that koalas are voracious breeders. When the male is ready to mate, he makes a noise which has been likened to “a pig on a motorcycle”.

As you can see from the picture, koalas have two opposable thumbs. This allows them to climb trees and grab small branches with ease. A recent paper has also detailed that koalas adopt their famous “tree hugging” pose to help them lose body heat.

#3 : The Little Penguin

The smallest breed of penguin in the world, the Little Penguin stands at 30-35 cm in height. Found only in Australia and New Zealand, these penguins famously participate in the “penguin parade” on Phillip Island, near Melbourne. The penguins spend up to a month at sea feeding, but some will return to their nests at dusk, often to feed their hungry chicks.

When the time comes to return from the sea, the little penguins have evolved a great survival technique – they form groups of 10-20 in the sea, then choose one unfortunate penguin who has to make sure the coast is clear. This scout penguin runs up and down the beach a few times to make sure there are no predators so that the other birds can return safely to their nests.

[youtube http://www.youtube.com/watch?v=WFkWfsUHtJw]

For more information on the little penguin colony on Phillip Island, Victoria, see this link.

#2 : The Inland Taipan

This snake gets the honour of being ranked number 2 because it is the most venomous snake in a country full of venomous snakes – which I think is quite a feat.

The title of “most venomous snake” was awarded to the Inland Taipan as its venom has the lowest LD₅₀ score when tested in mice. This means that a very small amount of toxin is needed to cause death in 50% of subjects when compared to venom from other snakes. The Inland Taipan is also highly venomous when used on human heart cells in culture. One drop of venom is enough to kill 100 men.

Despite its highly venomous nature, the Inland Taipan is actually quite placid and rarely attacks humans. The world’s second most venomous snake, the eastern (or common) brown snake is generally more aggressive and has more fatalities to its name, according to this rather baffling Wikipedia list.

Although it is the most venomous snake in the world, the Inland Taipan is not the most venomous animal in the world. This honour is usually bestowed on the Box Jellyfish. Guess which country this comes from ….

Perhaps the need to be tough enough to survive Australia’s harsh environment may explain why the country contains an abnormally large amount of deadly creatures.

#1 : The Platypus

When the platypus was first discovered by early Western explorers, the scientists back home thought this duck-billed, beaver-like, egg laying creature was a hoax. The platypus and the hedgehog-like echidna (also Australian) are the only living examples of monotremes, or egg laying mammal. They are classed as mammals because they lactate and are warm-blooded (although actually their blood is cooler than most mammals).

Sequencing of the platypus genome in 2008 revealed that it shares genetic characteristics with birds and reptiles along with mammals. Because of this finding, monotremes are believed to have formed a separate branch on the evolutionary tree, very early into the evolution of mammals. This makes the monotremes especially fascinating to science because they give us clues about our evolution that no other animals can.

The reason that the platypus gets top ranking (as opposed to fellow monotreme the echidna) is the extra evolutionary level the platypus brings – the males have a venomous spur on their ankles which can cause severe pain and swelling in humans. This spur is believed to be used during fights between males for the attention of a female.

So there’s your number one weird Australian animal – frankly, what’s not to love about a furry mammalian bird-reptile which, when angered, will give you a nasty kick with its poisonous ankle?

*by “scientific” I mean “in my opinion”.

** this does not include the many varieties of spiders found in Australia for no other reason than I don’t want scary spider pictures on my blog.

Post by: Louise Walker

The new year is usually reserved for looking back and reflecting over what has just gone. But it’s also a good time to look forward into the upcoming year and think about what it may bring.

Science is no exception to this. 2013 has been a remarkable year; we had our first taste of lab-grown meat, the Curiosity Rover found water on Mars and Richard III turned up in a car park. But what will 2014 bring to the world of science?

The Rosetta Spacecraft will hopefully tell us more about comets and the origins of the universe

The Rosetta Spacecraft was launched in 2004 and has been on a 10 year journey towards the comet 67P/Churyumov-Gerasimenko. The spacecraft, which has been in a state of hibernation since July 2011, will wake up on January 20^th 2014. It is hoped that Rosetta will begin mapping the comet in August and eventually land a probe on its surface in November, then Rosetta will travel with the comet towards the Sun until December 2015. It is hoped that the information gathered from Rosetta will help to better understand the role comets play in the origins of the universe.

Better diagnostic techniques for cancer

Last year, laboratory supply giants Qiagen teamed up with the company Exosome Diagnostics to develop a less invasive test for cancer and other diseases, which may one day replace standard tissue biopsies. This technology makes use of tiny spheres of fat called exosomes. Exosomes are formed inside cells, before being released into the body where they travel in fluids such as spinal fluid, urine and blood. The inside of these exosomes can contain many bits of information about the cells they were released from, including genetic material such as RNA and DNA. It is hoped that 2014 will see the implementation of technologies which harvest exosomes from body fluid and use the information they contain for early diagnosis and development of new treatment strategies.

Increased research into three-parent embryos

Last year, I reported that the Human Fertilisation and Embryology Authority (HFEA) ethics committee were debating whether to allow research into three parent embryos in the UK. The committee found that there was widespread support for the technique and so approved the proposal. This means that the UK is the first country to approve the use of an IVF technique using the DNA from a mother, father and mitochondrial donor. Parliament are now producing draft regulations and the legislation should hopefully be put into place by the end of this year. This means that 2014 could be the start of a journey which may ultimately lead to the eradication of certain inherited diseases from family lines.

Laboratory-grown organs becoming closer to reality

The last few years have seen a big increase in the number of organs successfully grown in the lab and this technology is now providing real benefits for patients as lab-grown organs, including windpipes and bladders, are being used as transplants.

The ability to grow complex organs, such as a liver or pancreas, would be a huge leap forward which could revolutionise transplantation techniques and help cure diseases such as diabetes. In 2013 it was reported that scientists were able to produce tiny livers and mini brains outside of the body. This amazing technology may one day provide the answer to our shortage of transplant donors, while lab-grown organs derived from a patient’s own stem cells may also eliminate the problem of transplant rejection. Although, it is unlikely the coming year will see the development of fully functioning complex lab-grown organs, these techniques have come forward in leaps and bounds and, hopefully, 2014 will bring us another step closer to growing complex organs outside the body.

Of course, this is just the tip of the iceberg. One of the most exciting things about science is that it isn’t always clear what the future holds. We have very little idea really what will be discovered in 2014; I’m looking forward to watching the stories unfold and the discoveries roll in.

Post by: Louise Walker

What do you think 2014 will hold for scientific discovery? Please let us know in the comments below

It’s getting to that time of year when it becomes socially acceptable to stuff yourself full of the fattiest foods imaginable and then do nothing for 48 hours. You may be one of those people who is planning on upping your exercise regime to compensate for the increased calories consumed over the holidays. Unfortunately, I have some bad news for you: It’s probably not going to work.

Exercise and weight loss: is it a myth?

It’s long been burned into our brains that doing exercise is a good way for us to lose weight. This link was first noted by the scientist Jean Mayer in the 1950s, who observed that girls who did less physical activity tended to be obese.  Since then, we’ve been regularly targeted with gym adverts and equipment aimed to get us moving and help us lose weight. You “burn off” calories when you exercise and so don’t gain weight, right?

However, in recent years the message has become increasingly confusing. There is an increasing level of evidence (examples here, here and here) that suggests that exercise alone is not an efficient way to lose weight. According to the Mayo Clinic, you’d have to remove 500 calories every day for a week to lose 1 pound in weight. To put that in context, you’d have to do about an hour of high-impact aerobics every day for a week to burn off 100 grams worth of cookies. Not eating the cookies in the first place would be a far more effective way of losing weight.

It is important to remember that exercise is important for maintaining your weight. Therefore if you’re trying to lose weight and keep it off, experts believe that the best thing to do is to gradually reduce the amount of calories you eat but also to do regular exercise. People who crash diet or severely restrict the amount of calories they eat have a tendency to regain weight quickly once the diet is over. Crash dieting also leads to other health problems and can even reduce your ability to lose weight in the long term.

Another message which seems to be getting lost is that there is a big difference between “weight” and “health”. Exercising will keep your body and mind healthy. Some scientists believe that being obese does not necessarily mean that you are unhealthy in the same way that being thin does not automatically make you fit. It would be better if people aimed to be “healthy” rather than “thin” and exercise is essential if you want to be healthy.

Sugar, sugar

Even more confusing than the exercise/weight loss conundrum is the recent idea that fatty foods such as butter and red meat may not be as bad as we thought. Some scientists, such as Dr Robert Lustig, believe that it is sugar, not fat, which is causing the current obesity trend.  Dr Lustig attributes the toxicity and addictive nature of sugar (specifically fructose) to the rise in obesity levels. The increase in sugary drink consumption has also been attributed to the skyrocketing levels of type 2 diabetes.

This advice has been taken on board by some governments.  In the UK, the official line from the NHS is still that obesity is caused by “eating too much and moving too little”. However, the Swedish government has implemented a dogma of eating a high-fat, low-carb diet.  This is essentially a less extreme version of the Atkins diet in that you limit the amount of carbohydrates you eat (including sugar and “starchy” foods such as potatoes, pasta and wheat bread) but can eat as much butter, cream and bacon as your heart desires. This diet could also explain the French Paradox; that is, the observation that people in France are relatively healthy despite a high consumption of fatty food.

When is a healthy food not healthy?

When it’s a smoothie. If you take into account the idea that sugar, not fat, is the cause of the country’s dietary health crisis, then smoothies and fruit juices are unfortunately categorised as “a bad thing”. It seems hard to stomach after being told for so long that fruit is a “healthy” alternative but fruit is packed full of sugar. More sugar is released from fruit when it is in liquid form. You’ll be relieved (or horrified, depending on your outlook) to hear that vegetables are still classed as “healthy” as they contain less sugar than fruit.

There are also questions about “sugar-free” drinks, which contain artificial sweeteners such as aspartame. Whilst the alleged link between aspartame and cancer is so far unclear, there are people who think now that aspartame and other artificial sweeteners may cause weight gain.

Who do you call?

Part of the confusion that stems from this crisis is the vast array of information coming at us from all sides. Some scientists say one thing (“fat is bad”), other scientists oppose them (“sugar is bad. Exercise is good but not for weight loss”). The government takes the advice of one side of scientists (currently the “fat is bad” side) and informs us about lifestyle choices according to the advice they receive.

The “professional” dietary industry is confusing. There are differences between a dietician and a nutritionist. A dietician is accredited and is a protected title, a nutritionist isn’t. This means anyone can refer to themselves as a nutritionist, even if they have no background or knowledge on the subject. So the information that is being spread by some so-called “expert nutritionists” could be entirely false.

What’s even more confusing is even if you do consult a dietician, the information is changing all the time. Fat is bad, fat is good, avoid sugar, exercise a lot, exercise moderately. All of these have been given as scientific-based advice in recent times.

Evil, bad scientists?!

Before you grab your torch and pitchforks and hunt out all the scientists for releasing this confusing information into the world, please remember that research into diet is very complex. For example, is it that inactive people are fat or that fat people are inactive? Whilst certain elements may cause obesity in laboratory animals, humans are a different kettle of fish. People have a tendency to lie in surveys about our eating habits, and weight can fluctuate a lot. This means that accurately researching the causes of obesity and related illnesses is extremely complex.

The problem is not so much to do with the scientists, who are doing the best they can, but the way that the market is controlled. The advice from the government doesn’t really take into account more recent data. Additionally, people who sell smoothies or own gyms will keep marketing their product as “good for losing weight”. We’re targeted with a lot more adverts for gyms and food than we are with the latest scientific information. Scientists accept that data and findings are changeable and accurate data takes many years and many, many people. Advertisers and businesses are not so patient.

This is all making me want to curl up into a confused little ball. And comfort-eat a tonne of chocolate. What should I do?

I’m sorry to say I can’t help you. I am not a dietician (or even a nutritionist).  My inexpert advice, (coming from nothing but reading a few articles and journal entries on weight loss) is that we should all aim to be “healthy” rather than “thin”. Healthy means different things to different people. Do what you need to do to feel healthy. This could include exercising regularly, trying to cut down on your sugar intake and/or avoiding fast food, which is usually packed full of sugar and salt.

Comfort-eating the chocolate may not be as bad as you think (maybe eat less than a tonne though). There have been papers published which find that eating chocolate (fat, sugar and all) can lead to weight loss, in both children and adults. Chocolate consumption has also been linked to lower incidences of cardiovascular disease and stroke.

So what do we know, really, about diet, obesity, health and exercise? Not an awful lot, I’m afraid.

Post By: Louise Walker

There are some scientists that everyone has heard of; Darwin, Newton and Curie all spring to mind. Of course, their scientific discoveries were all legendary. But what about the people who have contributed just as much to the world of science but who maybe aren’t so famous? Here I’ve compiled a small list of some of the scientists I think have contributed just as much to our understanding of the modern world as those mentioned above. Although many of these people have been recognised in their fields and some have even won Nobel Prizes, their names have never entered the wider public consciousness.

1.       Rosalind Franklin (1920 – 1958) and Maurice Wilkins (1916  – 2004)

Whilst Franklin and Wilkins are probably the best-known names on this list, they are not as well-known as they should be.  The discovery that DNA is a double helix is now forever associated with (James) Watson and (Francis) Crick. However, there were other names involved in this remarkable achievement, including Wilkins and Franklin who were working at King’s College London at the time of the discovery. Maurice Wilkins even shared the 1962 Nobel Prize with Watson and Crick, yet somehow his name has been lost from the public consciousness. His student was Rosalind Franklin, whose work with X-Ray diffraction was the key to confirming that DNA is indeed a double helix. Much has been made of Franklin not winning the Nobel Prize along with Watson, Crick and Wilkins. But, the sad fact is that the Nobel Prize is not awarded posthumously and by the time the discovery received this honourable recognition she had sadly passed away – at the tragically young age of 37. However, what I believe to be even more scandalous, is that her contribution seems to have been entirely overlooked until a few years ago when the deserved recognition began to flow in.

As for Wilkins, Watson himself states in his autobiography ‘The Double Helix’: “I proceeded to forget about Maurice, but not his DNA photograph”¹. There is no doubt that the work done by Wilkins and Franklin was instrumental in aiding Crick and Watson with their ground-breaking discovery and their names certainly deserve to be remembered!

2.       George Gey (1899 – 1970)

Although he is a figure of some controversy, I think George Gey (pronounced “guy”) deserves to be on this list. Gey was the first person to propagate the HeLa cell line – the first human cells to be successfully grown in a laboratory environment. Since then, scientists have used HeLa cells, and other cell lines created since, to make many important breakthroughs, including the discovery of a treatment for polio. And they are still used in thousands of labs across the world, including mine (see picture).

The controversy surrounding Gey² is the fact that the HeLa cells were taken from a cervical cancer patient, Henrietta Lacks, without her permission. Gey did not ask Henrietta or her family for permission to use or distribute the cells. The cell line was later patented and has made those who patented it (incidentally, not Gey or his family) very rich. Henrietta’s family received no money for the use of her cells, and until recently, Henrietta’s contribution went unacknowledged. George Gey however, did not have such financial motives; once he managed to successfully grow the HeLa cells, he gave them away to fellow scientists.

Whilst controversy remains as to how much money the Lacks family should be entitled to, I like to remember George Gey; the man who started it all out of altruism with no financial motives, a quality that should be admired.

3.       Sir Edwin Southern (1938 – )

Here’s one for fellow biochemists. Edwin Southern is a British molecular biologist and inventor of the Southern blot. This is a method for detection of DNA, now commonly used in DNA fingerprinting and genetic profiling. The Southern blot was later developed into the cleverly-named Northern Blot – modified to detect the other form of genetic material, RNA. Even better, the development of the Southern Blot finally led to development of the Western Blot – a method used to detect proteins. These methods are probably used by every biochemistry lab across the world, including mine (see picture).

The Southern blot and its offshoots have become staple practices in the lab and have made way for many important discoveries. Yet I know few biochemists who have even heard of Edwin Southern or his contributions to the scientific methods they use on a daily basis.

4.       Dorothy Crowfoot Hodgkin (1910 – 1994)

Another British scientist, Dorothy Hodgkin, won the Nobel Prize in Chemistry in 1964 for discovering the structure of vitamin B12. She was a pioneer in the field of X-Ray crystallography, working on solving the crystal structure of proteins. Her knowledge was instrumental in the discovery of the structure of several proteins, but arguably her greatest achievement was in leading the team that solved the structure of insulin. This discovery led to the development of synthetic insulin – now widely used to treat people with type I diabetes.

Hodgkin has been recognised for her work in the scientific community. Along with the Nobel Prize she was also the first woman to win the prestigious Copley Medal. Some of her fellow recipients include Charles Darwin and Stephen Hawking. She was a true pioneer, not just for women in science but also for promoting peace and aid for developing countries. (According to her Wikipedia page, she did teach Margaret Thatcher, but I guess nobody’s perfect.)

While you could argue that most of these names are well-known in scientific circles, they have not become household names along with the likes of Darwin and Hawking. And this is by no measure an exhaustive list!

Perhaps one of the most endearing qualities of great scientists is that they rarely do what they do for fame or fortune. In fact, many actively shy away from the limelight. People like George Gey and Dorothy Hodgkin were certainly more interested in curing disease and adding to our understanding of the world than earning money or becoming famous. So this is just my way of thanking them for their tireless work and recognising the contributions they have made to modern science.

Post by: Louise Walker

¹ The Double Helix by James Watson, Simon and Schuster, first published 1968

²To find out more about Henrietta Lacks and George Gey, see The Immortal Life of Henrietta Lacks by Rebecca Skloot, Pan MacMillan, 2011

If you have been living on Earth recently, you’ll have come across the news that a certain Hollywood actress has undergone major preventative surgery due to the discovery of a faulty gene. The gene in question is called BRCA1 and, if mutated in a certain way, it is known to greatly increase a carrier’s chances of developing breast cancer. This incident has thrust genetic screening into the limelight – but how useful is it to know the secrets concealed within your genes?

We now have technology to take screening even further. Writer and journalist Carole Cadwalladr reports in the Guardian that whole-genome screening by Illumina is now available for just $5,000. That may seem a lot, but considering it would have cost $2.7 bn just 10 years ago, it’s a hell of a price cut. Several other companies, including  23andme and AncestryDNA are also offering to screen your genome and let you know what, if any, potential disease-causing mutations you have. Some of these scans cost as little as $99.

But do you really want to know what, if anything, is wrong with your genes? In some circumstances screening can be very useful – it can save lives. When Angelina Jolie tested positive for the BRCA1 mutation, she took the decision to have a preventative mastectomy. She hopes this will allow her to avoiding the pain of cancer and the pain her children would face watching their mother suffer; a pain she herself knows all too well. In cases like this, screening and early intervention is important because we know that a mastectomy can greatly reduce a carrier’s chances of developing the disease.

But what if there is no prevention for the disease detected by the sequencing? One of the more famous examples of this is Huntington’s Disease. Huntington’s is a debilitating degenerative disorder characterised by shaky, jerky movements (called chorea) and progressive cognitive decline. It is caused by a single faulty gene, huntingtin. This gene is inherited in a dominant fashion, meaning that if one of your parents has the disease, you have at least a 50% chance of also suffering. As sufferers do not generally start to show symptoms until their 40s, they may not realise they carry this mutation until after having children – who will therefore also be at risk. It is now possible to screen people for the faulty huntingtin gene. However, there is no cure for Huntington’s. Knowing you have the gene will not help you to prevent the onset of disease; therefore do you want to know? This is a dilemma that many children of Huntington’s sufferers face. Some decide it’s best to know, especially if it will influence their choice to have children, but others would prefer not to have this time-bomb ticking over their heads.

Genome screening could allow people to adjust their lifestyle to counteract a faulty gene. For example, it is common knowledge that smoking can cause lung cancer. However, everyone also seems to have a great-aunt Gladys who smoked 90 a day and died at 102 after getting hit by a bus. On the flip side, there are people like the Record Breakers presenter Roy Castle, who died of lung cancer despite being a non-smoker. It may be that your genes determine whether you are more like Gladys or Roy. If you get your genome screened and it turns out you’re more like Roy, you could adjust your lifestyle accordingly and quit (or not start) smoking.

I’m also going to use a personal example here. If you are familiar with this blog, you may know that there is a history of Alzheimer’s Disease and dementia in both sides of my family. The cause of Alzheimer’s disease is so far not clear-cut; it appears to be a mixture of genetic and environmental factors but nothing is known for sure. One of the strongest genetic links so far is a gene called ApoE. If you have a version of the gene called ApoE4 you are at higher risk of developing Alzheimer’s. However, it does not necessarily mean that you will suffer from the disease.

So let’s say, hypothetically, that I had my genome screened and it confirmed I had the ApoE4 gene. What can I do with this information? Well, the first thing I’d probably do is panic. I’ve seen Alzheimer’s disease happen and don’t really wish to go through that. However, I am now prepared. I am at higher risk; therefore I need to try and counteract that risk. There are several methods which have been suggested to reduce the risk of Alzheimer’s disease, including eating curcumin, a spice found in curry, and keeping the brain active by doing crosswords or learning a musical instrument. I could also avoid sugary foods, as there is increasing evidence of a link between diabetes and Alzheimer’s disease. So now I’m more informed, I can happily shovel spoonfuls of chicken tikka masala into my mouth with one hand whilst playing the piano with the other and hopefully I won’t get Alzheimer’s.

But there’s another side to this. If I have the faulty gene, I will probably have inherited it from at least one of my parents. Which one? Should they get screened too? What if it’s too late for them to take preventative measures and now all they know is that at some point they might get dementia? What happens if I have children? Should they be screened? How early on do you need to start taking preventative action? What if the screen flags up another faulty gene? Or several? What if I can’t prevent a disease caused by these other faulty genes and so will have to go through life knowing that I will at some point suffer from it?

As this is a whole-genome screen, as opposed to a screen for one particular gene, it is also likely to pick up genes that you weren’t even aware you carried. Some mutations are carried silently through families, or your DNA may have become mutated another way, e.g. through smoking or exposure to UV light. Do you want to know that you may at risk of a disease you may never even have heard of? Again, good if it’s preventable (for example you discover an allergy to a medicine that you haven’t yet had to take) but if it’s not preventable, what does that leave you with? That ticking clock over your head.

The other issue here is how this type of information will be used. Illumina loads the data onto an iPhone app for you, meaning that the data must be stored somewhere. Who else has access to that information? How secure is it? Could it be possible in the future that people start demanding to know the results of genome screens for potential prime ministers to make sure they’re not going to suddenly get cancer whilst they’re supposed to be running the county? And what if health insurance companies start demanding full-genome screens before you can get a policy?

Also, new genetic links to diseases are being discovered all the time. So a screen done now may miss a genetic mutation that is flagged up in the future as being a possible cause for disease. Would you have to get screened more than once? Maybe you’ll need to be screened every few years to keep up with discoveries being made.

I feel I should point out here that the science behind this technology is amazing. The fact that it is even possible is a huge achievement and a testament to the dedication and innovation of the scientists who developed it. And it was invented to help people – to screen for faulty genes with the idea of saving lives. I have worked in a lab which has collaborated with Illumina and in doing so the lab was able to identify a new Alzheimer’s risk gene (the catchily named PCDH11X). This is all useful and helpful information. However, my worry is that the information will be exploited by other people looking for a profit, or preying on people’s fears, as unfortunately these things so often are.

But what about if you’re having your genome screened to discover the secrets of your ancestry? This was done recently for Prince William, and the papers excitedly claimed that “he will be the first king of England to have a genetic link to India“. However, using these services to find your ancestry may be interesting but it is not always accurate. As explained by this Sense About Science leaflet, genetic screening is not an exact science. Also, when you’re told that you are related to Charlemagne, well, so is everybody else alive today (according to an episode of QI, anyway). Most genetic ancestry screens will only go via one line – either your mother’s, through mitochondrial DNA, or your father’s, through the Y chromosome line. This leaves out an awful lot of your other potential ancestors, for example your maternal grandfather or paternal grandmother. These screens do not, and probably cannot, tell you the whole story of your ancestry.

Is it a good idea to re-open Pandora’s Box, especially if you’re just curious about your genes? Will it save millions of lives or lead to a weird state where everyone has to know exactly what disease they may or may not suffer from at a given point in time? I think, like the people at risk of Huntington’s, and like Angelina, it’s a personal choice. Some people are happier not knowing, some will want or need to know. No one should ever be forced to have their genome screened. Measures also need to be taken to make sure that this information stays personal and secure. I’m nervous about the idea that what your genes hold may become public knowledge. I personally don’t think I want to know what’s in my genes. I am already aware that I am at risk of developing Alzheimer’s, and there’s no harm in taking preventative measures anyway. I do like a good curry.

Post by: Louise Walker

Since September 2012, there has been a consultation in the UK on whether to allow the creation of three-person embryos. This may sound like an odd debate to be having, but there is a good reason for trialling this technique: to reduce the risk of genetic mitochondrial disease.

What are mitochondria?

Often referred to as the “generators” or “batteries” of a cell, mitochondria provide the energy required for the cell to work normally. Each mitochondrion is tiny, only about 1 μM (1 thousandth of a millimetre) long, but their function is essential. Several mitochondria are found in each cell – the higher the energy requirements of the cell, the higher the number of mitochondria found there.

The curious thing about mitochondria is that they have their own little set of DNA. This DNA is responsible for the production of the building blocks that make up oxidative enzymes – proteins which are important for energy generation. Mitochondrial DNA consists of 16,569 base pairs, a tiny fraction of the 3.3 billion base pairs found in the nuclear genome.

Mitochondria have many unique features not found in any other part of the cell. Their DNA is circular – this is a feature normally found in bacterial cells (also known as “prokaryotic” cells), whereas humans and other animals store their DNA as strands in the nucleus (these are called “eukaryotic” cells). Mitochondria also have their own unique set of ribosomes, the machines which make proteins in the cell.

These distinctions have led scientists to theorise that mitochondria may have a different origin to the rest of the components in a cell. It is thought that they were once free-living organisms, something like bacteria. A long time ago, in the early days of evolution, these bacteria invaded an early incarnation of a cell. Both bacteria and the cell were able to co-exist perfectly together – the cell provided the bacteria with essential proteins and the bacteria were able to generate plenty of energy which the cell could use. It’s a bit like if your house was invaded by Pikachu – he would provide you with free electricity as long as you kept him well-fed. Both of you would benefit from the arrangement.

As this partnership worked so well, the bacteria were eventually assimilated into the cell and became a permanent feature. This is known as endosymbiosis – a mutually beneficial co-development of host and invader.

Mitochondrial Disease

Mitochondrial disease affects each sufferer differently. The affected mitochondria may only be in one tissue type or they could be in several. The most commonly affected organs include the brain, muscle and kidneys, because these require a lot of energy. There is a huge variety of symptoms, making it very hard to diagnose. Some types of mitochondrial disease have more common symptoms and so are termed under collective names –such as Alpers’ Disease and Leigh Syndrome. The onset is usually in childhood but it can also develop in adults. About 4000 children a year in the US are affected by mitochondrial disease and in severe cases it is fatal, with the child unlikely to reach adulthood. So far, there is no known cure.

Three-person embryos

Every embryo contains three separate genetic components: DNA from the father, DNA from the mother and mitochondrial DNA. These are brought together when an egg cell, containing both maternal and mitochondrial DNA, fuses with a sperm cell containing paternal DNA. In cases of mitochondrial disease, the mitochondrial DNA in the egg cell is damaged, and this damage can be passed on to the child who may then develop disease symptoms. By creating three-person embryos, scientists are hoping to prevent mitochondrial disease by replacing the faulty mitochondria with normal ones before the embryo develops.

There are two techniques to create three person embryos which are being discussed. The first is called “maternal spindle transfer”. The idea behind this is to take an egg from the mother and remove the nucleus containing all of her genetic material apart from the mitochondrial DNA. A donor egg with healthy mitochondria has its nucleus removed and replaced with the nucleus from the mother’s egg. The egg will then be fertilised by the father’s sperm, in a similar way to conventional IVF.

The maternal spindle transfer technique has been successful in animal trials. In human trials however, only about half the eggs made using this technique developed normally. The researchers involved still think the results are encouraging enough that the technique should be allowed to go the next stage: clinical trials. Currently, this is illegal in both the US and the UK. The present government debate is whether to change the law to allow these clinical trials to occur.

The second technique is called “pro-nuclear transfer” and involves fertilising both the mother’s and donor’s eggs with the father’s sperm. Before the eggs divide, the nucleus is removed from both eggs, and the nucleus from the mother’s egg is placed in the donor’s. Doug Turnbull and his team at Newcastle University in the UK have pioneered this technique and have successfully developed embryos to about 100 cells (the “blastocyst” stage).

A mother, a father and a little bit extra

Mitochondria contribute only a tiny amount of the DNA to a person’s genome. Therefore, a three-person embryo would consist mostly of the DNA from the father and mother, with only a small proportion coming from the donated mitochondria.

There is much controversy surrounding “three-person embryos”. For starters, the phrase itself sounds a bit weird and unnatural. What’s more, there are multiple ethical issues and moral arguments, such as “interfering with nature” or who will have parental rights. Some people are worried about what impact having three genetic parents would have on a child’s development. Others point out that this won’t cure existing sufferers; it would just prevent new babies from being born with the disease. Furthermore, it is not known what effect this technique could have on future generations.

However, the concept of “three parents” is not as bad as it sounds. The tiny mitochondrial genome is only responsible for certain basic processes. So, it appears unlikely that having the mitochondria from another person will have a big impact on the development of the characteristics of the embryo or the child, such as its appearance or personality.

It may be possible to reduce any “three-parent” risks by using mitochondria from a family member of the father. The mitochondrial genome is always inherited from the mother, as mitochondria are present in the egg at fertilisation. In the same way, the father’s mitochondria will have been inherited from his own mother. Donation of an egg from a maternal relative of the father (his mother, a sister or maternal aunt) would ensure the embryo would still inherit the exact mitochondrial DNA of one parent, in this case, the father rather than the mother.

The concepts and techniques behind mitochondrial donation have been subjected to ethical reviews, which concluded that the techniques are promising but that more research is needed. However, doing further research would require a change in the current law as genetic modification has never been tried to this extent in humans.

The future of mitochondrial donation

The Human Fertilisation and Embryology Authority (HFEA) have been consulting public opinion of three-parent embryos. They published their results in March 2013, finding that 44% of the 1000 people surveyed approved of the technique, with 29% against it. However, an open online questionnaire found that 455 people were in favour with 502 against. So, public opinion is clearly divided on the issue.

I think the term “three-person embryos” or “three-parent babies” should be dropped because it has alarming connotations, making the technique sound strange and unnatural – a bit like the “Frankenfood” label given to GM crops. Describing it as “mitochondrial donation” may encourage people to understand its potential benefits and may help dispel controversy. The very existence of mitochondria in our own cells proves that something that seems unnatural can be benign or even beneficial – if those proto-bacteria hadn’t invaded the host cells all those millions of years ago, life as we know it would never have developed in the first place.

The UK has always been at the forefront of scientific innovation, especially with fertility. This was highlighted by the recent passing of Sir Robert Edwards, one of the scientists who pioneered the IVF technique (unfortunately his death in April 2013 was somewhat overshadowed). His legacy was to bring desperately wanted children into the world, and now we have a chance to improve on that by adapting his technique to reduce suffering. I sincerely hope the government gives the green light to further investigate this concept. Of course, lots of work still needs to be done before the technique can actually be used, if it can be used at all. However, I think the researchers should be given the opportunity to develop this potentially life-saving technique.

Post by: Louise Walker