Beyond the genome

Day 7 (last day!): Our volunteers

imageFrom left to right: Andrej Fischer; Qasim Ayub; Manasa Ramakrishna; Richard Pearson; Carol Smee; Antoine Claessens and Adam Reid

It’s our final day here at the Royal Society Summer Science Exhibition and we’ve had a great time. We’ve got another group of eager explainers who are here to tell you all about genomics and answer your questions. Today’s explainers are:

  • Andrej’s work involves closely studying how cancerous tumours evolve in order to help improve current cancer therapy strategies
  • Qasim uses the study of genetic variation to understand how modern humans have evolved 
  • Manasa works in the Cancer Genome Project identifying the DNA mutations responsible for cancer 
  • Richard is also studying malaria genetics with Antoine
  • Carol is responsible for ensuring our research projects comply with relevant regulations and research ethics 
  • Antoine is studying malaria genetics and understanding the interplay between the malaria parasite and humans
  • Adam is using DNA sequencing to understand the genetics of parasites that cause neglected tropical disease 

If you’ve already been along to see the exhibition we hope you enjoyed it, and if you’re still planning to come along make sure you do soon as we won’t be here for much longer!

We’d just like to thank the Royal Society for this opportunity to showcase the science that we do at the Sanger Institute. We’ve had a lot of fun and we know that Rachel and her team at the Royal Society work really hard to put this event on. Thank you to them for all their help and support.

Day 6: Our volunteers

imageFrom left to right: Julian Rayner; Dan King; Eva Goncalves Serra; Jenny Hill; Maria Imaz and Olivia Joseph

Our penultimate day here at the Royal Society Summer Science Exhibition and we’ve got yet another great team of volunteers to tell you all about genetics and the work that is done at the Wellcome Trust Sanger Institute, Here we go with the introductions!

  • Julian leads a group of researchers and is mainly interested in trying to stop the malaria parasite invading red blood cells
  • Dan is a PhD Student studying the changes that occur in DNA and what role these may play in developmental disorders such as learning disability and autism
  • Eva is a PhD Student studying the genetic causes of rare thyroid diseases and extreme forms of inflammatory bowel diseases
  • Jenny is a PhD Student investigating the genetics of Salmonella that causes food poisoning and Typhoid fever
  • Maria works in the Institute’s new stem cell facility which is looking to produce stem cells from skin and other cells
  • Olivia works in the Cancer Genome Project team, which uses the latest DNA sequencing technologies to find mutations in DNA in cancer

So come on down to meet them, see our stand and have a play with all our interactives…not to mention all the other wonderful groups exhibiting here with us this week! It’s going to be a scorcher of a day but come along and see some hot science!

Beyond the Genome - the week so far


We’re now over half way through the Royal Society Summer Science exhibition, so, what’s happened so far? Well, we’ve had an amazing response to our stand Beyond the genome. Visitors have been clambering to play with our hands-on interactives, racing to sequence DNA as fast as they can. Our You vs. Machine game has brought the competitive spirit out of visitors, our explainers and even other exhibitors! Our neighbours on the Zebrafish genetics stand are currently top of the table. Please someone come and knock them off the top spot!!!

We’ve had some great chats with visitors about how DNA sequencing has changed and revolutionised what we understand about human health and disease. The rapid advancement of DNA sequencing technologies has astounded many people: from the incredible reduction in the time it takes to sequence a human genome, to the sharp fall in the cost of DNA sequencing. All of this technology is enabling us to do amazing research on the genetics of humans and also the genetics of organisms that cause disease such as viruses, bacteria and eukaryotes, like malaria and tapeworm.  

We’ve also had interesting, and challenging, conversations about the social and ethical issues of DNA sequencing. Our inner future chamber beams DNA sequence on to visitors and encourages them to think about what they would like to know about their genome. We’re certainly getting to hear plenty of opinions, which is fantastic. A lot of visitors seem very curious to find out what secrets might be locked away in their genomes - what they might be able to find out about their ancestry and future health. But others seem a little more wary…

Our explainers are also having a great time. Many are finding new enthusiasm and inspiration for the research they do by chatting with visitors to the exhibition and other exhibitors. So thanks to everyone who has come along to see us. It’s also been fun for a few of our explainers to get dressed up and meet some of the scientists that inspired them at the evening soirees with Fellows of the Royal Society.

So far we’ve had a great week at the Summer Exhibition but we’ve still got lots of energy to talk with more of you in the remaining few days. The exhibition runs until Sunday so there’s still plenty of time to come along and join the fun. We look forward to seeing you there!


Day 5: Our volunteers

imageFrom left to right: Zannah Salter; Netra Krishnappa; Kat Ripullone; Will Chow; Vicky Goody and Lachrissa Burns

Day 5 at the Royal Society Summer Science Exhibition, it’s been a busy week but we’re still expecting lots more visitors and we’ve got another fantastic team from the Sanger Institute to welcome you! Let’s meet them:

  • Zannah works in the team that uses whole genome sequencing to understand the transmission and evolution of bacteria 
  • Netra is a research assistant studying the changes that occur in DNA and the role these may play in developmental disorders in children
  • Kat is studying how our underlying genetics affects our risk of developing disease like heart disease and diabetes
  • Will is a bioinformatician, working on the reference genomes for vertebrates including mouse, zebrafish and humans
  • Vicky works in the Cancer Genome Project team aiming to identify the genes responsible for cancer 
  • Lachrissa works in our DNA sequencing facility 

There’s only two days left to visit us before we have to pack up so make time to pop in and find out all about your genome :)

The wonderful world of stem cells

By Maria Imaz

What is a stem cell?

A stem cell is a cell whose job in the body is not yet determined. They have two key properties that define them from other cells. First, they can divide as many times as they like and second, they have the potential to specialise and develop into one of a whole host of different cells e.g. a liver cell, or a muscle cell.

Before they specialise, stem cells are characterised by their potential to become different kinds of cells – for example, stem cells that can become almost any kind of cell are called pluripotent stem cells.  However, as these pluripotent stem cells develop and become committed to specialising into one particular cell type (e.g. a liver cell); they lose their ability to specialise into other cell types (their pluripotency) and become adult cells.


What do we do in our work with stem cells?

Some cells that have made this transition from pluripotent stem cell to specialised adult cell (in our case, we use skin cells) can be reprogrammed with a specific mix of factors, which effectively clean out the cells and turns them back into pluripotent stem cells again – like wiping a laptop or computer, it erases everything and puts it back to factory settings – that’s exactly what we’re doing. We call these reprogrammed cells ‘induced pluripotent stem cells’ or iPS cells. Once we reprogramme the cells we aim to analyse them using some of the state-of-the-art technology that Sanger has to offer and make the results available to the wider scientific community.


A colony of iPS cells as seen under the microscope

Why is this work important?

Induced pluripotent stem cells or iPS cells are incredibly useful for all sorts of research around the world where particular cell types are needed and classic stem cells are not an option. Pluripotent stem cells are more difficult to get hold of and often have ethical restrictions on them, so iPS cells are the perfect solution. Plus, by having all the iPS cells we produce analysed and made available to researchers all over the country means increased circulation of knowledge which will hopefully lead on to bigger and better research!


One of the labs in the new Cellular Generation and Phenotyping facility at the Sanger Institute 

What will we be doing over the next few years?

Over the next few years we aim to collect skin samples from over 500 healthy volunteers and 500 patients with a range of genetic disorders. We will grow skin cells from all these samples and reprogramme them to create unique and individual iPS cells. As we produce these cells, they will be stored, ready for researchers requesting to use them in their work – this ‘bio-bank’ will  eventually become the biggest and most detailed collection of such cells in the UK.

Maria Imaz works in the new Cellular Generation and Phenotyping facility at the Wellcome Trust Sanger Institute.

Maria will be one of the explainers on the Royal Society stand on Saturday and would be more than happy to tell you more about her work if you are interested.


Day 4: Our volunteers


From left to right: Will Proto; Laura Huckins; Kevin Dawson; Yasin Memari; Frank Schwach and Stuart McLaren (not pictured) 

We’re just over halfway through the Royal Society Summer Science Exhibition and we’ve got another fantastic group of scientists on the Sanger Institute stand today. Here is a bit of info on each of them…

  • Will is looking at how the malaria parasite invades human red blood cells 
  • Laura is a PhD student working on the genetics of eating disorders
  • Kevin works on the Cancer Genome Project. He is developing statistical methods to discover which genes are involved in the progression of different cancers
  • Yasin is studying human genetic variation to see how we differ in our DNA and how humans have evolvedHe is also working on UK10K to link genetic variation with risk factors for cardiovascular disease.
  • Frank is a computational biologist working on the disease malaria
  • Stuart works in Cancer Genome Project and has been at the Sanger Institute since the 1990s. He looks after a lab that is sequencing the DNA from patients’ tumours to find out the genetic causes of cancer

So come and talk to us, we won’t bite! We look forward to seeing you on the stand :)

Why do we sequence the genomes of parasites?

By Magdalena Zarowiecki

Many children around the world grow up without access to basic healthcare. From scientific studies, we know that parasitic disease has a severe impact  on the lives of children, causing problems that continue into adulthood. Children infected with parasites become ill and malnourished meaning they may not be able to attend school. Consequently, as adults they suffer from poorer  health and earn less money than those who didn’t suffer with parasitic infection as children.

Luckily, help is on its way. The World Health Organization (WHO), national aid programmes, non-governmental organisations (NGOs), academic organisations  and developing countries are working in a concerted effort to tackle these diseases. Some leading pharmaceutical companies have even promised to donate medicines for free. Early results are very promising; they show that one of the cheapest and easiest ways of improving the school results of children in affected areas is to treat and remove their parasitic disease. Without parasites, the children have the energy to go to school and learn, allowing them to realise their full potential.

There are still some problems however. For some parasites there are currently no known treatments available, and even if treatments are found, the parasites often still figure out a way to survive them. That is why scientists at the Wellcome Trust Sanger Institute and all around the world are working together to sequence the genomes of many different species of parasite. These genome sequences can help us find new medicines and ensure that they remain effective in treating parasitic infection.

I dream of the day when all children can grow up without suffering from parasitic infection, and as a scientist at the Wellcome Trust Sanger Institute, I work every day to ensure that this will eventually happen.


The picture shows three species of parasite, for which the genomes have been sequenced at the Wellcome Trust Sanger Institute. From left to right: the pork tapeworm, the fox tapeworm and the human blood fluke. The red cross constitutes a DNA sequence from the beginning of a gene called Thioredoxin glutathione reductase – currently thought to be a promising target for treatments against these types of parasitic worm.

Dr. Magdalena Zarowiecki is a Postdoctoral Fellow studying tapeworms in Matthew Berriman’s Parasite genomics research group at the Wellcome Trust Sanger Institute. 

Magdalena will be one of the explainers on the Royal Society stand today discussing genetics and the work she does at the Sanger Institute so be sure to say hello if you’re going along!

Day 3: Our volunteers

From left to right: Richard Durbin; Klaudia Walter; Lucy Crooks; Anna Middleton; Hayley Bennett; Magdalena Zarowiecki and Christine Boinett

Day 3 at the Royal Society Summer Science Exhibition and we’ve got another set of enthusiastic volunteers from the Sanger Institute to answer all your genetics questions!

  • Richard leads a group studying human genetic variation and leads the UK10K, a project to sequence the DNA of 10,000 people from the UK.
  • Klaudia is working on UK10K which is sequencing the DNA of 10,000 people across the UK to find genes associated with various human traits, such as height, weight and blood pressure
  • Lucy is also working on UK10K investigating the genetics of common conditions affecting the nervous system, including migraine, epilepsy, schizophrenia and autism
  • Anna is a registered genetic counsellor, currently researching ethics and genomics at the Sanger Institute  
  • Hayley works in the parasite genomics team which is sequencing the DNA from some of the world’s neglected tropical diseases
  • Magdalena is studying the DNA of tapeworms to find new ways to prevent them from causing harm to humans and livestock
  • Christine’s research looks at the use of whole genome sequencing to study bacteria

Come and visit Beyond the Genome to find out more about genetics, the Sanger Institute and those who work there. We look forward to meeting you!

Would you have your genome sequenced?

Your genes can tell you about your past, present and future medical health.  But what would you want to know from your genes? This is one of the questions we are asking this week on our stand Beyond the Genome at the Royal Society Summer Science Exhibition.

DNA sequencing is gradually becoming cheaper and cheaper and it won’t be long before the cost of sequencing a human genome will be less than £1,000. Today, a CT scan carries a similar cost so it is not unrealistic for us to start thinking of DNA sequencing as an affordable tool that could eventually be used in our NHS hospitals. This is great when we consider the possibility of being able to accurately discover the DNA changes responsible for a cancer to ensure the best drug is given ( Or, being able to sequence the genomes of bugs that are part of an MRSA outbreak (the idea being to choke the bugs at source and prevent the MRSA spreading further). Or even for DNA sequencing to become a standard part of a newborn child’s medical records, that can be referred to if they become ill later in life.

But hold on for a moment! What does all this information mean and what if we don’t want to know all of it?

Let’s step back from the wonders of science and technology to think about this for a minute. When we sequence a human genome we are looking at 3,000,000,000 letters of DNA, finding out about all 20,000+ genes in one go. Realistically, each person’s genome contains an average of around 100 different things of interest. Some of these may take effect on a person as they grow into an adult and some may be relevant to their future children, if they have them. It has been estimated that counselling someone through all of this information would take around five hours.

So what would you want to know from your genome? Would you want to know about your ancestry? Would you want to know about your risk of developing heart disease, cancer or Alzheimer’s? Would you want to know the same about your partner’s DNA? Or would you rather wait to see what hand you’re dealt, as you get older?

Social scientist and registered genetic counsellor Anna Middleton is researching these ethical questions at the Sanger Institute. Anna has developed an online questionnaire at This survey uses films to describe the ethical issues involved in genome sequencing and users are invited to explore their views through a series of thought-provoking questions. Anyone can participate, including you!

We are also discussing some of these issues on our Royal Society stand this week and are interested to hear your thoughts and opinions. As explained in a previous blog post, we’re carrying out this poll on both sides of the Atlantic, at the Royal Society exhibition and at Genome: Unlocking Life’s Code  which is being held at the Smithsonian National Museum of Natural History in Washington DC. We’re also asking you to share your views with each other on Twitter #DNAethicsUK. These are issues that concern all of us so now is the time to tell us exactly what you think!

Day 2: Our volunteers


From left to right: Amy Cain; Sandra Reuter; Chris Illingworth; Lucy Yates; Karen Kennedy and Tomi Ilicic

It’s day 2 of the Royal Society Summer Science Exhibition and we have a whole new group of volunteers from the Sanger Institute on the stand to answer any of your queries. Let’s see who we’ve got!

  • Amy uses whole genome sequencing to look at genetic variation in bacteria
  • Sandra is studying different disease-causing bugs to find out about how they are transmitted and how they have evolved over time 
  • Chris works on mathematical methods to study how pathogen genomes change in response to medicines and the immune system
  • Lucy works on the Cancer Genome Project where she is using next-generation sequencing technologies to study the genetics of breast cancers
  • Karen works in the Director’s Office as Head of Strategic Relations at the Sanger Institute 
  • Tomi is a PhD Student studying the technical part of biology -"bioinformatics". He uses high-tech software to allow him to study the role of genes in the mouse immune system.

So come and join us! We look forward to seeing you :)