Dragon Duncan misses the bigger picture!

By Kelly Lea

Oxfordshire couple and co-founders of PlayDNA, Dr. Samantha Decombel and Dr. Stuart Grice, were seen on BBC2’s Dragons’ Den last night pitching for £50,000 investment in their business which creates artwork from DNA at Cherwell Innovation Centre. 

Dr Stuart and Dr Sam face the dragons

Together for 17 years, the couple had an attractive business proposition if only the expert panel of entrepreneurs were able to keep their mind on the business in hand. Instead, viewers saw the Dragons probing for personal information about Sam and Stuart’s marital status rather than focussing on PlayDNA’s business potential, ending with Peter Jones offering the sum of £50,000 to Stuart if he proposed to Sam on the show.

Spot the scientists!

Undeterred by the TV experience filmed in May 2013, the business savvy couple have recently launched MuscleGenes, a sports specific spin-off company of PlayDNA, established to analyse genes that impact on fat burning, endurance, speed, metabolism and aerobic capacity.

The company already boasts celebrity clients including professional rugby player, Roger Wilson and TV presenter Andi Peters, both of whom have endorsed MuscleGenes via testimonials and social media. Celebrity doctor Dr Christian Jessen of Embarrassing Bodies fame is also known to have taken the test.

Dr. Samantha Decombel explains: “MuscleGenes has taken us to a whole new market.  Our sales have already eclipsed PlayDNA in our first few months of trading and we have experienced significant growth and appetite for our product in the UK and US.  We feel Duncan Bannatyne definitely missed a trick by not looking at the bigger picture, especially with his knowledge of the sports sector.”

The MuscleGenes test focuses solely on the information contained within an individuals DNA to help fine tune training programmes, performance and nutritional advice, with no artwork involved.

Swabbing the legendary Ronnie Coleman!

The idea for MuscleGenes came about shortly after the den experience in a chance meeting with co-founder, Dr. Dan Reardon, a medic and former personal trainer.

Within 3 months MuscleGenes was formed and the impact was immediate. “Our sales went through the roof and we had to take the product off sale because we couldn’t manage the demand!” says Dr. Samantha Decombel. “In May, we were despondently walking out the den without investment. By September, we were in Vegas at the Mr Olympia event swabbing 8-times Mr Olympia Ronnie Coleman!”

The MuscleGenes team in their lab space at Cherwell Innovation Centre

The team is already five strong with plans to recruit an additional two people to join the Cherwell Innovation Centre HQ following further investment in high-throughput equipment. Commenting on her journey to date, Dr. Samantha Decombel continues: “It is difficult for scientists to have the ability to start-up a company due to the significant investment needed in lab space and equipment.  We have been very lucky to discover Cherwell Innovation Centre, as rather than funding an entire lab, we have been able to just rent a bench in addition to sharing equipment and office space with scientists who are in a similar situation.  This has enabled us to invest in other areas, such as our branding and marketing, vital for product sales and the success of the business.”

Cherwell Innovation Centre is one of the only facilities in Oxfordshire to provide a flexible agreement for start-ups interested in lab space, office space and meeting room facilities.

The MuscleGenes Nation!
The sharp-eyed amongst you may spot a few IFBB Pros amongst the happy MG customers

MuscleGenes new website is now live with the aim of capitalising from primetime TV exposure gained through the Dragons Den appearance.  To find out more about the company and how genetics can help improve your sports performance, visit: musclegenes.com.  Alternatively, visit PlayDNA for a family DNA portrait.

A happy ending!

For people intrigued by the Dragons’ probing into Sam and Stuart’s personal life, the University of Oxford DPhil Geneticist proposed to his business partner and girlfriend last November in Stratford-upon-Avon, the location of their first date just before Sam’s 16^th birthday.  The couple are now both 33.  Dr. Samantha Decombel concludes: “We are (finally!) very happily engaged to be married and after 17 years of waiting I wouldn’t swap Stuart’s eventual proposal for any amount of Peter’s money, it was much more romantic than a TV studio!”

Doctors told us our twins were non-identical, but our DNA portraits revealed the true story

Oliver and Oscar, or is it Oscar and Oliver?

When John and Liz O’Neill were told they were going to have twins they were over the moon. During their scans they found out the twins were developing inside separate amniotic sacs, and as a result were told by the medical staff they would be non-identical.

The adorable Oscar and Oliver were born on 9^th February 2012. Both parents were understandably smitten, but also amazed at how alike the tiny siblings were.

Over the next 12 months Liz and John were constantly stopped in the street or the supermarket where strangers would coo over the twins and say ‘they must be identical!’ Although they would explain no, they were actually non-identical, the twins striking similarity meant they themselves had always harboured some doubt. “I think I might have even mixed them up during bath-time once” jokes Liz.”I felt like a terrible mother because I couldn’t tell them apart!”

Shortly after the boys 1^st birthday, while reading an article on twins, Liz discovered that it was actually possible for identical twins to develop in separate sacs if the egg splits very early on during development. With this new information and a sneaking suspicion that their initial instincts had always been right, Liz contacted PlayDNA to ask for help.

“I went to school with Sam, and knew through facebook that she had started a business creating DNA artwork with meaning. I thought her forensic artwork might offer some clue as to whether Ozzy and Olly were identical or not” said Liz. We agreed to help, and took samples of DNA from each family member, including the twins older brothers Jack, age 8 and Josh, age 5.

“When I saw the photos of Oliver and Oscar I too had assumed they must be identical” says Dr Sam. “I thought it would be a wonderful project to have a peek inside their genes and see what that told us about their story, and also make a wonderful family memento!”

The O’Neill family DNA Portrait

Dr Sam prepared a bespoke piece of artwork for the family, which looked at ten different genes related to particular traits, such as eye colour, memory and whether you’re more likely to be an early bird or night owl. The results were pretty conclusive.

“Olly and Ozzy shared all ten genes in common – which combined with their amazing likeness is a sure sign that they are actually identical twins!” says Dr Sam. “This is made more apparent when we see their DNA portraits alongside their elder brothers, who very obviously have several differences in their DNA. We calculated the odds of them sharing these genes by coincidence, and it works out at 0.39% – in other words, less than a 1 in 200 chance. The O’Neill family now has their colourful DNA portraits framed and on the wall for all to see.

Mum Liz told us: “Thank you so much for taking the time to explain what it all means despite being so busy. We really appreciate it. It was so interesting and is all we’ve talked about since. We’ve named ourselves team night owl and are putting together our owl names and power rangers style salute! The kids are loving it. We’re so excited about having the artwork in the house and being able to explain it properly to all our family and friends. It’s a brilliant thing for the kids to be able to grow up around and learn from. I just wanted to let you know how grateful we are”.

Personalised DNA art company PlayDNA will be on Dragons’ Den on Sunday 2nd February 2014 – tune in to see how they got on!

Team Night Owl: the whole O’Neill clan!

Komodo, the Magic Dragon

by Dr James Sleigh

To celebrate the appearance of PlayDNA on the BBC’s Dragons’ Den, we are diving into the mystical world of dragons…

Here be dragons

Powerful, fearsome, venomous. A rare breed of predator with sharp claws, razor-like teeth, and an insatiable appetite. No, we are not talking about Deborah Meaden, Peter Jones, or even Duncan Bannatyne of Dragons’ Den fame. We are describing the Komodo dragon, the largest living lizard, and native of the Indonesian Islands of Southeast Asia. But, do they deserve their dragon moniker?

They have no wings, and they can’t breathe fire, you say. Nor do they live for centuries, or like to hoard gold.

A real dragon
Photo courtesy of http://ngm.nationalgeographic.com

Not a real dragon
Photo courtesy of http://hollywoodlife.com

Nevertheless, these creatures, which can grow to over three metres in length and eat up to 80% of their body weight in a single feed, do possess an almost mythical ability worthy of the dragon name.

Miraculously, in separate zoos in the UK (Chester and London), two female Komodos, which were completely isolated from males, laid clutches of eggs that resulted in lots of baby dragons. This ability for females to produce offspring without mating with a male is known as parthenogenesis, and is very rarely seen in vertebrate species (those with a backbone like you and me). In fact, only about 1 in 1,000 vertebrates can reproduce in this manner. It was particularly unexpected that such a large animal as the Komodo dragon would join this rather selective group.

Intriguingly, all the virgin baby dragons were males. This is because of the interesting genetics of Komodos. Much like we have X and Y sex chromosomes (XX = female and XY = male), Komodo dragons have W and Z chromosomes. However, rather than females having two of the same sex chromosome like humans, female Komodos have one W and one Z chromosome while males are ZZ. When female dragons are isolated from males, through parthenogenesis they are able to duplicate either their W or Z chromosome (along with the rest of their non-sex chromosomes), resulting in eggs that are either WW or ZZ. The WW eggs do not survive, but the ZZ eggs produce viable male baby dragons.

Hello mummy!
Photo courtesy of BBC

It is believed that this ability to switch between sexual and asexual reproduction has evolved as a strategy to be able to survive in the Komodo’s natural habitat of isolated islands. Females finding themselves washed up on unpopulated islands are able to reproduce asexually, producing males for future mating.

Fascinating.

Not quite cloning, but I’m sure some of the BBC dragons would be interested in making similar duplicates of themselves so they could make twice as much money! What’s that? You want to know the outcome of PlayDNA’s adventure in the dragon’s lair? Well, you will just have to wait until Sunday to see how Dr. Sam and Dr. Stuart fared…

PlayDNA is on Dragons Den Sunday 2nd February BBC2 at 9pm.

Happiness is in the genes of the beholder

It’s a grey miserable Friday the 13th, so what better time to think about happiness! 

 

The always cheerful (no matter what the weather!) Dr James Sleigh explains how recent research suggests that happiness and health are actually linked on a biological level…

 

How often do you feel happy?

 

How often do you feel that you have contributed something to society? How often do you feel that you belong to a community group?

 

Well, the answers to those questions now appear to affect more than just your mental and social well-being. New research suggests that your level of long-term happiness and self-satisfaction also has a significant effect on your genes.

A team of scientists in the US decided to study how positive psychology impacts gene expression levels in humans.

Genes are short sections of your DNA that are copied to produce intermediate molecules called RNA, which can then be used as templates to create proteins, the fundamental components of all cells. When we talk about gene expression levels, we are describing how many intermediate ‘RNA’ copies are made from a particular gene.

When a gene or sets of genes are expressed at different levels to what is expected or normally observed in a particular group of people, this can sometimes indicate that something is perhaps not quite right.

In the study, the researchers took blood samples from 80 healthy people and looked at the expression of all the genes in the human body.

They also asked the volunteers a range of questions about their psychological well-being in order to determine whether their happiness was more due to having a deep sense of purpose in life, or perhaps more due to instant self-gratification, for example through going on regular holidays or getting to eat your favourite food.

The study found that those people who believed that they had a greater meaning in life had low expression of genes involved in unwanted inflammation and high expression of genes linked to a healthy immune system.

The opposite was true of the group of people whose happiness was mainly a product of immediate self-satisfaction.

These differences can have a major impact on general health because having high expression of inflammatory genes is linked to cardiovascular and other diseases, while having low expression of immune system genes can affect your ability to fight off infection.

Interestingly, both groups had similar positive feelings about their lives, indicating that the subtle differences in happiness have a greater effect on the genome, and therefore your health, than they do on the conscious adult mind.

So the moral of the story is that doing good by others and trying to live a meaningful life is perhaps better for your long-term health than making yourself feel happy in the short term.

Reference: A functional genomic perspective on human well-being (2013) PNAS

http://www.pnas.org/content/early/2013/07/25/1305419110.abstract?sid=df96ab02-ac3b-4d8b-89e1-1e041a7a3c14

Ask The Scientist: Lara’s Question

(L-R) Morgan, Lara and Brooke, who set us three excellent and thought-provoking questions!

It’s time for the third and final question in our ‘Ask The Scientist’ series – a selection of questions posed by the students of Irchester Community Primary School, Northants.

Three weeks ago we tackled a really insightful question from Brooke on why DNA is in a double helix.

Our final question comes from Lara, and it’s a particularly sensitive question that many of us may have wondered at some point, but be afraid to ask for fear of causing unintended offence.

Why do people who have genetic disorders such as Down’s syndrome look similar physically?

– Lara, aged 11

It is true that there are certain genetic disorders that it’s relatively easy to spot if a person has. Down’s syndrome is one such condition. People with Down’s syndrome tend to share a number of physical characteristics, although it’s important to recognise that not every individual with the syndrome will have them all.

These characteristics may include almond shaped eyes that slant upwards and outwards, small ears and nose and a flat nasal bridge. People with the syndrome also tend to be shorter than average with poor muscle tone and have short, broad hands with a single crease across the palm.

Down’s syndrome (also known as Down syndrome) is a genetic condition where a person inherits an extra copy (or part) of one chromosome. People with the syndrome have three copies of chromosome 21 (called a trisomy) rather than the usual two.

Chromosomes are the structures that our DNA is stored in, and our DNA contains the genes that provide the instructions to build our bodies. It is differences in our DNA that makes us all unique, inside and out. As our DNA controls how we develop, having this extra bit of genetic material slightly alters the way Down’s syndrome babies grow in the womb of their mother, changing the finely tuned balance of the body.

The result of this is the characteristic physical features we see in Down’s syndrome. People with Down’s syndrome will also have varying degrees of learning disabilities, from mild to very severe. Around 750 babies with Down’s syndrome are born in the UK each year.  Down’s syndrome affects all ethnic groups equally, although slightly more boys are born with Down syndrome than girls.

Despite the characteristics they share in common, most importantly, like me and you, every individual with Down’s syndrome is unique. If you look past the characteristic traits we’ve described, you will see that people with Down’s syndrome, just like you and me, will inherit their looks and general characteristics from their mum and dad. Have a look at some of these family images we’ve pulled together below and you’ll see that each and every child is also a beautiful son or daughter, with all the typical family characteristics such as hair and eye colour, face and nose shape and smile.

Just like you and me, they are also all different and all unique.

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Ask the Scientist: Brooke’s Question

(L-R) Morgan, Lara and Brooke, holding the helical DNA model we are all so familiar with

Our ‘Ask The Scientist’ series continues with another question from the students of Irchester Community Primary School, Northants.

Last week we tackled an excellent question from Morgan on why we all have different DNA.

This week our question comes from Brooke, and it’s another cracker!

Why is DNA in a double helix?

– Brooke, aged 10

The DNA double helix – but why?

Has it ever occurred to you why DNA is in a double helix? Nope? Me neither. It is one of those things we have always taken for granted, we don’t question it, it just IS. Which is why it sometimes takes a young and questioning mind to bring such an oversight to our attention. So we put our heads together here at PlayDNA and had a good think.

We decided there are a couple of different ways we could approach Brooke’s question.

We could look at it from a chemistry perspective and ask how, chemically, the helix is formed and what chemical or physical forces cause it to take this shape.

Or, we could look at it from a biological perspective and ask why, evolutionarily, it was this particular structure that we ended up with.

We’ll take a look at each in turn, but before we get stuck in, let’s take a moment to remind ourselves what DNA actually is.

What is DNA?

DNA is organised as two long strands of bases which twist around one another to form a double helix. DNA bases pair up with each other, A always with T and C always with G, to form units called base pairs. This is all held together by a sugar-phosphate backbone.

DNA, which stands for deoxyribonucleic acid, is the complex chemical that carries our genetic information. It is a bit like an instruction manual for building the body and keeping it healthy. We keep an entire copy of our DNA code (called our genome) in almost every cell in our body (wow!).

The information, or blueprint, for building a human being like you or me is stored in our DNA as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C) and thymine (T). These bases are joined together to form long strands, which wrap around one another to form the helix shape we are so familiar with (a bit like a twisted ladder). The human genome consists of around 3 billion pairs of these bases!

Essentially, it is the order in which these bases are organised in our DNA that tells our cells what to do.

The chemistry of the DNA double helix

The basic chemical principle behind why DNA forms a double helix is actually relatively straightforward. As we can see from the diagram above, DNA is essentially made up of three parts: sugar, phosphate and bases. It is the way in which these different molecules react to water that is key to the helical shape.

Let’s look at our sugar molecule first. We all know that to sweeten our tea or our fizzy pop, sugar has to dissolve in water. When something is able to dissolve in water, it is called ‘water-soluble’ or ‘hydrophilic’.

Next comes the phosphate. You might not have heard of phosphates before, but they are really very important!

Phosphate is a major nutrient required for plant growth and is a common addition to plant fertilisers (have a look at the bags of compost next time you’re at the garden centre). See what a difference it can make to how well these plants grow!

Phosphates are involved in virtually every cellular reaction in our bodies and are key building blocks for many cellular compounds (including DNA of course!) They are absolutely essential to human, plant and animal life.

Just like the sugar, phosphates are able to easily dissolve in water too.

Finally lets consider the bases. You might have guessed by now, the bases are the opposite of the sugar and the phosphate – they hate water! They are ‘hydrophobic’ and do not dissolve in water.

Bases hate water too!

So what happens to the bases when you put them in water? Something very similar to what happens when you mix oil and water – they pool together and don’t blend with the water at all. But most of the space in our cells is filled with water, so how do these ‘hydrophobic’ bases exist in our cells?

Well, once they are attached to a sugar and a phosphate (to form what is known as a nucleotide) they arrange themselves in such a way as to be as far away from the water as possible. Where is this? Why in the centre of the molecule of course! The water-hating bases stack themselves in the middle of the molecule while the water-loving sugar and phosphate backbone sits on the outside.

But there is another problem.

The DNA strands arrange themselves so the water-hating bases are tucked away safely in the centre of the molecule and as far away from the surrounding water as possible!

If the bases just stack themselves (like a ladder) this still leaves space around the bases through which water can sneak in – and the bases don’t like that! They naturally form a position that keeps them all as far from the water as possible, just like the way oil will clump together on top of water. The most efficient position the molecule can form to do this is – you guessed it – a helix, as the ‘twist’ in the molecule closes up and minimises those gaps through the middle.

So that is why, chemically, DNA forms a double helix. It’s all simply down to the way the molecule interacts with water.

But there is another, less direct way to look at this question. A biologist (and we are all biologists here at PlayDNA!) would perhaps ask why it is this particular structure that has endured over any other type of molecule. Why has life evolved to use bases arranged in a double strand to carry our genetic code and not some other formation? Why a combination of water soluble and insoluble chemicals?

In short, why is the DNA double helix so perfect for carrying our genetic information?

The biology of the DNA double helix

As we’ve seen above, when we refer to DNA as being ‘double-stranded’, we mean that it consists of two strands of DNA bound together. However these strands are not permanently bound to one another. They can be separated for a couple of reasons:

• So that the cell can ‘read’ the instructions contained within the DNA and tell it what to do.
• So that the strands can be used as a template to make a whole new copy of the DNA code for a new cell – a process called ‘DNA replication’.

Unbelievably, each and every one of us developed from just a single cell.

We all start out life as just a single cell complete with the original DNA copy we got from our mum & dad! As we develop, our cells duplicate, and each new cell needs its own copy of DNA to tell it what to do. That’s a LOT of copying!

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To make new copies of your DNA code, the DNA-helix is first “unzipped”. Each half will then be the template for a new, complementary strand. Biological machines inside the cell put the new bases onto the split molecule and also “proof-read” the result to correct any mistakes. The final result is two exact copies of the original DNA molecule!

From that single cell, an individual grows to around 100 trillion cells (!), and almost every one of these cells contains an entire copy our DNA (remember there are over 3 billion bases in just one copy).

That is a lot of DNA for our bodies to read and copy! It is really important then that we keep any errors in this copying to a minimum, as at this rate errors can build up quickly, and errors in our DNA code – or mutations as they are also known – are usually a bad thing.

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In this regard, being double-stranded helps in at least two ways.

Oops, an A base has been accidentally put in the new strand of DNA instead of a C base! The double stranded nature of DNA keeps these errors at very low levels, but they do still happen in our DNA all the time. Luckily most of these mutations are harmless, as they don’t occur in the important areas of our DNA.

Firstly, as we know, it is the chemical bases A, T, C and G that carry the DNA code. If the DNA molecule were single stranded, this important part of the molecule would be exposed to the cellular environment, which would mean a higher likelihood that it could get mutated by the numerous chemicals there. In our double stranded model however, the precious bases are kept locked away within the complex, keeping them safe from the harsh external environment.

Secondly, as we saw earlier, the two DNA strands that form the helix are essentially complementary copies of one another. An A base on one strand always pairs with a T base on the other, and likewise C always pairs with G. Having two complementary strands facing each other means that our cells always have a back up; a way to check that our DNA has been copied correctly. It allows for a level of ‘proof- reading’ of the DNA sequence so some mutations can be corrected, or at least limited.

In summary, the double-stranded DNA helix is a winning combination for packaging genetic material for the long term. It keeps our DNA code as faithful to the original as possible with its ability to be copied precisely and without errors, and offers some protection against mutation.

It is perhaps no surprise then that almost all organisms – plants, animals, yeast and bacteria – carry their genetic information encapsulated as DNA: it is the perfect molecule for the job!

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If you have anything to add, or any more questions on this topic, please do feel free to comment below!

With thanks to Dr. Rama Balakrishnan, Stanford University (http://genetics.thetech.org/ask/ask109) and Jeremy http://medicguide.blogspot.co.uk/2008/07/why-is-dna-double-stranded-but-rna.html)

Ask the Scientist: Morgan’s Question

I have always found that young people ask the most insightful of questions. They can come up with questions we would never had thought to ask, and yet, once posed, make us sit up and think “actually, yeah, why is that?”

(L-R) Morgan, Lara and Brooke

Following my recent interview with the Lab_13 children of Irchester Community Primary School I was lucky enough to receive three such questions from three very bright and talented young ladies. Together with my colleagues Dr James Sleigh and Dr Stuart Grice, we have prepared responses to each of their questions in turn.

To make them a little easier to digest, I will post one a week. Our first question comes from Morgan, age 11. We hope you enjoy reading them, and feel free to add your own thoughts below!  

I know we all have different DNA but why? Why do we need to be different?

– Morgan, aged 11

Everybody does indeed have different DNA, and that is one of the things that makes you unique and who you are. However, the sequence of your DNA is almost 99.9% similar to that of another person. That means that if you were to look at the letters that make up your DNA and my DNA, 999 out of 1000 are likely to be the same. This percentage gets even higher when you compare your DNA with a relative.

If you go in the opposite direction and compare yourself with a chimpanzee, the differences become bigger and that similarity percentage goes down. I’m sure you’ve all heard of people tracing their family histories and drawing a family tree. Well imagine doing that and going back a few million years. Eventually, you would come across an ancestor that you share with a chimp!

Now keep on going. If you were to go back billions of years until your tree includes every animal that ever lived, you would have drawn the “Tree of Life” and you would be able to see how life on earth has evolved, and how new species came to exist.

And this is why we all have different DNA and need to be different. For a species to be able to survive and thrive, it needs to be well adapted to its environment. Think of an African elephant with its large ears to improve heat loss and a polar bear with its extremely thick fur to keep it warm. Each species has many ‘adaptations’ in order to survive. If you were to swap the two and put an elephant in the Arctic or a polar bear in Africa, neither would live for very long!

Perfectly adapted to their environment, but not so good in each others!

These adaptations have come about because of evolution by natural selection acting on their DNA.

It is actually the genes in DNA that result in the different characteristics we see in all species. A gene is simply a short section of DNA that tells our cells what to do. If you think of your DNA as a recipe book, the genes are the individual recipes. Each of us has the same set of genes – about 20,000 in all. The differences between people come from slight variations in these genes.

Differences in our genes, which can come about through natural mutations in our DNA, lead to new characteristics. A lot of these changes may be bad, but some may be good, and improve the chances of an animal surviving. Those animals with genes that improve their chances of survival will be more likely to live long enough to pass on their DNA to their children than those animals that don’t possess the advantageous genes.

In recent years our environment is improving again, and with lower levels of pollution we are starting to see an upturn in lighter-coloured moth numbers
– what colour are the moths near you?

When this selection of genes occurs over long periods of time, animals within a species can become more different from each other until two groups form that can no longer have children together. When this happens, new species have formed.

The differences in human DNA allowed our species to adapt to the environment over generations. If we go back a few thousand years, when there were no computers, or telephones, and we were living in small huts and caves, life was much harder and there was much more danger in the world. If we all had the exact same DNA, we would all be very similar in our appearance and our physical and mental abilities. That means that we would have been much more likely to die out as a species if a life-threatening change in our environment occurred, perhaps a new disease that no one was immune to for example.

Monocultures are plantations of genetically identical plant species: what do you think will happen to this crop if it was attacked by disease?

However, having small differences in our DNA means there is a chance that some people could be immune to that disease. If attacked by a large predator like a lion, it would be those who could run faster that would survive, or maybe those who were smarter and able to hide better. These individuals would be more likely to stay alive long enough to pass on their advantageous genes.

Being different then is a good thing, not only because it means that life is a little more exciting with the diverse range of people you get to meet, but also because we are more likely to survive into the future as a species!

Curious young minds

Earlier this month I was contacted by Scientist in Residence Jennifer Hogan on twitter. Jennifer, as I found out, runs a very special science lab for primary children in Northants called Lab_13.

Lab_13 is a space dedicated entirely to investigation, innovation and creativity; a space managed by young people; a space led by young people.

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What a fabulous concept I thought!

Jennifer invited me to be interviewed by some of the children on the Lab_13 committee about my career path. They were particularly interested in how I had combined my dual loves of science and art.

Of course I agreed, as there is nothing more satisfying than being able to help enthuse and encourage young people to get involved in science!

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Letter from George and the Lab_13 committee

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You can find my full interview with the Lab_13 children of Irchester Community Primary School at their blog here:

http://lab13network.wordpress.com/lab_13s/irchester/careers-in-stem-interviews/dr-sam-decombel-playdna/#comment-921

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Thanks Jennifer, George and everyone at Lab_13, it was an honour to be asked and an absolute pleasure to get involved!

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A genome’s junk is a gene’s treasure

By James Sleigh

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2012 was an eventful year.

We saw Queen Elizabeth II mark 60 years on the British throne, Team GB excel at the fantastic London Olympic and Paralympic Games, the re-election of US and Russian presidents, and Gangnam Style conquer the world, all while managing to survive the Mayan apocalypse.

The year will also be remembered for a number of considerable scientific achievements. But which is the most important?

The landing of the Curiosity Rover on the surface of Mars? The discovery of the Higgs boson at CERN? Or perhaps even Herr Baumgartner’s record-breaking skydive from 24 miles above the New Mexico desert?

Deciding is almost as tricky as picking last year’s BBC Sports Personality of the Year!

As the newest member of the PlayDNA team, I’ve decided to begin the year by highlighting the research from 2012 that I think has the greatest impact on our understanding of what makes us human.

The Human Dictionary

Spot the difference

You may think you’re quite different from a grasshopper, the mould growing on your week-old loaf, or your Mum’s cheese plant. And you would be quite right. But, despite the instructions to create each species being different, the pen with which they are written is the same.

That is, we all share a universal genetic code – the DNA (the instructions) of all organisms is made from long strings of consecutive molecules known as nucleotides, which come in one of four different flavours (A, C, T, or G). The order in which these nucleotides are arranged within DNA affects how the inherent information is read, and what creature is eventually produced.

This happens because relatively short, distinct stretches of DNA known as genes, are copied to produce intermediary molecules that are then used as a templates to create proteins, the fundamental components of all cells.

Original cartoon by Daniel Paz

Thanks to the Human Genome Project (HGP), the entire instruction manual to build a human was mapped and published in 2003. This landmark scientific collaboration unravelled the sequence of all the letters in our DNA, and identified that each of us possesses a unique complement of about 3 billion nucleotides, including some 20,000 or so genes.

Incredible!

However, the term “genome” is perhaps somewhat of a misnomer, as unexpectedly genes were shown to account for only approximately 1% of the total DNA. The remaining 99% has since often been described as “junk” because it had not been linked to any particular function.

That is, until now.

The Human Encyclopaedia

Picking up where the HGP left off, the Encyclopaedia of DNA Elements (ENCODE) project is a decade-long study, involving over 440 scientists in 32 laboratories, and costing in excess of £180 million. The primary results from this large international collaboration were published late last year across 30 scientific papers, and have earned the ENCODE project my pick for the breakthrough of 2012.

The main aim of the ENCODE project is to build upon the human lexicon described by the HGP, by improving our knowledge of the grammar that weaves the directory of words into meaningful sentences. That is, the ENCODE project is attempting to better our understanding of how our genome of 3 billion nucleotides fits together, how the genes are controlled, and what all that “junk” is actually for.

Using nearly 150 different cell types, the scientists studied on a very large scale many different properties of human DNA sequences. They looked at which regions were active, which were silent, and what sequences appeared to be important for driving the production of proteins.

Each type of cell uses different combinations and permutations of these DNA sequences to produce its own unique biology. By comparing these differences, we are able to better understand how the genome is put together, processed, and read.

The upshot from what is the most detailed analysis of the human genome to date is that approximately 80% of our DNA has now been assigned a biochemical function.

Image credit: nytimes.com

It’s not junk!

Why should I care about that?!

Well, understanding what all the regions of the human genome are doing can help scientists to pinpoint certain genetic risk factors that predispose to different conditions. In the past, many studies looking at patient DNA sequences have found hotspots that appear to contribute in some way to particular diseases. Intriguingly, many of these regions were not found in genes but in the “junk,” making it hard to deduce how and why these seemingly unimportant parts of the genome were being correlated with certain diseases.

In light of the ENCODE results, it is highly likely that these regions are functionally impacting genes that at first glance did not appear to be involved in disease.

Just what the doctor ordered?

We are a long way from understanding the wealth of data that ENCODE has produced. And it’s not going to get any easier, as it is estimated that the project is only about 10% complete.

Nevertheless, by highlighting the importance of our genome’s “junk” for the function of our genes, this breakthrough project will undoubtedly lead to a deeper knowledge of diseases and how to treat them.

 

Dr James Sleigh is a published research scientist at the University of Oxford currently working on diseases that affect the nervous system. His interest in genetics and neuroscience was sparked while working in a lab at Harvard Medical School as an undergraduate, and he has never looked back! James is passionate about communicating science, and has even won awards for his science writing. He is the research correspondent for the SMA charity The Jennifer Trust and has recently joined PlayDNA as Chief Communications Officer – so no doubt you will be hearing plenty more from him!

 

How genetics is helping the snow leopard

Brrr! The snow is still falling here in Oxfordshire and has all but the bravest of us confined to our homes.

One animal that doesn’t mind the cold however is the majestic snow leopard.

Found throughout the major mountain ranges of Central Asia, including the remote Himalayas, the snow leopard (Panthera uncia) is among the most elusive of all the big cats.

Unlike us, snow leopards have a number of perfect adaptations for living in a cold mountainous environment. Their bodies are short and stocky, their fur is thick, and their ears are small and rounded, all of which helps to minimise heat loss. Their paws are wide, which distributes their weight better when walking on snow, and their tails are thick due to storage of fats and are very thickly covered with fur which allows them to be used like a blanket to protect their faces when they sleep.

Curiously the snow leopard cannot roar, and instead, much like a domestic moggy, they hiss, chuffle, mew, growl and wail.

Sadly, although perhaps unsurprisingly, the snow leopard is listed as an endangered species by the IUCN, the largest global conservation network. Just 3,000 to 7,500 individuals are believed to exist, although given its secretive nature it has been difficult for conservationists to work out exactly how many of these beautiful animals there are left in the wild.

Can you spot the elusive snow leopard? Yes, there really is one there! Tip: look just below the rocky outcrop on the left…
Image reproduced from: snowleopardblog.com/spot-the-snow-leopard, courtesy of Kim Murray, the Snow Leopard Trust’s Assistant Director of Science

This is where genetics has been invaluable in helping the conservationists estimate the numbers of wild snow leopard in certain areas.

Scientists in Nepal collected samples of “scat” (snow leopard poo to you and me) and, using the same genetic techniques we do in creating your PlayDNA portrait, profiled the ‘poo’ to work out how many individual snow leopards were in each area, and even what gender they are.

This is really important information to a conservationist as it allows them to see how human activity might be affecting snow leopard populations, identify areas of high conservation priority and assess the effectiveness of any potential conservation action. All with minimal interference to the snow leopard.

Let’s hope their efforts are rewarded by a resurgence in the numbers of these magnificent beasts.

– written by Dr Samantha Decombel, Founder (PlayDNA)

References:

http://www.biomedcentral.com/1756-0500/4/516

http://snowleopardblog.com