Epilepsy Awareness Day 26th March 2022 – Research Highlight
Who are you?
The Epilepsy Research Group, led by Professor Lynette Sadleir, is a research team based in the Paediatrics department of the University of Otago, Wellington. Professor Sadleir is a paediatric epileptologist at Wellington Children’s Hospital, as well as being the director of our group and heavily involved in epilepsy research. The team consists of our bioinformatician, research assistants, and PhD students.
What is the main objective of your research?
In the Epilepsy Research Group, our main objective is to improve the quality of life for people who have epilepsy. We undertake research that aims to understand the spectrum of epilepsy syndromes and their underlying genetic causes. Currently, we are particularly focused on the most severe group of epilepsies: developmental and epileptic encephalopathies. In these catastrophic disorders that present in childhood, the seizures and ongoing abnormal brain activity between seizures cause brain damage and result in intellectual disability, physical disability, autism and behavioural problems. We aim to use clinical and genetic approaches to identify new and emerging epilepsy syndromes in these children and then sequence their DNA to identify the genes responsible. When we identify novel epilepsy genes, we can then define the clinical presentation of people who have genetic abnormalities in those genes. Our findings are quickly put into clinical practice and help with the diagnosis and management of children who present have these severe disorders.
How is Genetics important to the research?
Epilepsy has a variety of causes however, the majority of epilepsy is caused by changes in the genetic code of an affected individual. These genetic changes cause abnormalities in the way the brain functions which ultimately result in seizures. There are a multitude of benefits that come with identifying the genetic change causing an individual’s epilepsy, which help improve the lives of children with epilepsy and their families.
Why should others be interested in your work?
Epilepsy is the most common serious neurological disorder worldwide. It is characterised by recurrent, unpredictable seizures. Over a lifetime, 1 in 20 people will have a seizure and ~38, 000 New Zealanders will be diagnosed with epilepsy. Epilepsy is a group of disorders, each with varying seizure types and outcomes. Many individuals live a relatively normal life but one third have treatment-resistant seizures which negatively impact their quality of life. The developmental and epileptic encephalopathies, in particular, can have a devastating impact on the trajectory of a child’s life. Our work, therefore, has the potential to help those individuals who are seriously impacted by their seizures.
Written by Brittany Jones
Science communication key to leading the research narrative, GO Symposium award winner says
Victoria Sugrue, University of Otago PhD candidate in Anatomy, is the winner of the People’s Choice Science Communication award at the recently held Genetics Otago Symposium, for a video about her research on the effect of sex hormones on DNA methylation.
Lab Supply was the sponsor of the annual event, which showcased and recognised the latest research from across the Centre. Lab Supply also sponsored the Science Communication prize, which highlights the value of communicating science in a way that informs and inspires audiences.
Read the full article and learn more about Victoria’s research here.
Congratulations Victoria!
Republished with permission. This story was first published by Lab Supply.
On the GO 2021
For those of you unable to attend our recent Symposium and who have not yet managed to get your hands on a physical copy of this years magazine, we have an electronic version you can view.
If you would like a physical copy, please get in touch and we will arrange a delivery to you.
A huge thank you to all who have contributed to this year’s magazine and to the events, research and activities that fill its pages!
NZ International Science Festival 2021
The 2021 NZ International Science Festival was both the biggest and most diverse festival yet, with a jam-packed programme that included over 100 events from 8th – 18th July. This biennial festival was enjoyed by the smallest budding scientists all the way through to those working in science but curious to find out more about other disciplines. Genetics Otago was lucky enough to be involved with two events over the 10 days.
Together with the Department of Biochemistry and the Genetics Teaching Programme (Genetics Mātai Ira) we hosted a hands-on display at the University of Otago Science Expo on the 9th and 10th of July. This huge 2-day event, in the atrium of the Business school, included displays and activities from 23 University departments and research centres. Children and adults alike had a great time exploring our stations; trying their hand at pipetting and gel loading, observing and drawing fruitflies and lysozyme crystals with mini microscopes and, our tried and true favourite, extracting DNA from bananas (a staggering 200 DNA extractions were performed over the 2 day period!)
The 17th and 18th of July saw us ‘set up shop’ for the Outside Inside Forest in the Meridian Mall. The Forest had a wide variety of activities over the 10 days including land and sea conservation, climate science and animal education. Genetics Otago brought along a modified version of our ‘Who Killed the Kiwi?’ school resource for the first time, adding another successful community outreach resource to our belts. Young detectives helped to identify suspects using footprint analysis and hair samples, they then learnt about the power of DNA in determining the true culprit (the naughty dog!) using gel electrophoresis. The use of a microscope and loading of gels were both hits with children of all ages. The activity provided a great reminder of why it is so important to keep our dogs under control while out walking in the bush and on beaches (this activity could easily have been ‘Who Killed the Penguin?’).
With almost 100 entries to our detective prize draw by the end of the weekend, we drew two lucky winners to take home a prize pack of Genetics merchandise. Congratulations to Quinn (5) from Invercargill and Siraj (6) from Mosgiel and thank you to all the young (and not so young) detectives who helped us solve the mystery.
Events like this are not possible without the support of volunteers to run the activities and answer the many questions from the public, so a huge thank you to the members of our Outreach hub who helped out over the two weekends, we hope you enjoyed the experience!
Ira Rangahau Māori 2021
Genetics Otago and Allan Wilson at Otago (University of Otago Research Theme) supported the second Ira Rangahau symposium, held on the 3rd and 4th of June 2021. This event was planned following the initiative of Phil Wilcox (Department of Maths and Statistics), who organised the inaugural Ira Rangahau in 2018. With Phil’s guidance, Alana Alexander and Catherine Collins (both Department of Anatomy) planned the format of Ira Rangahau 2021, with assistance from Rebecca Oliver (Genetics Otago) and Jane Reynolds (Division of External Engagement). The event was a great success, with 30 people, including Māori undergraduate students, staff and other interested colleagues at the University of Otago, registering to attend across the two days in addition to 23 colleagues and whānau listening via zoom.
‘…thank you to you all for organising everything and for inviting me along to share my mahi. I had an amazing time and got to talk to some truly inspirational people. I felt very privileged to be a part of it all!’ – Blaise Forrester-Gauntlett (invited speaker).
Participants were welcomed by Ben Te Aika (Ngati Mutunga, Te Ati Awa, Kati Wairaki, Kati Mamoe, Waitaha) with a mihi whakatau on the morning of the 3rd. We were then fortunate enough to hear from nine Māori kaikōrero (speakers) from across Aotearoa, and from a variety of host institutions (universities, CRIs and a DHB) about their research applying genetics. Many of the speakers were early career researchers and in addition to sharing their science, speakers spoke often of their experiences and journeys as Māori scientists. Over kai and inu during the breaks, participants networked and engaged in whakawhanaungatanga, strengthening relationships between genetic scientists at the University of Otago and elsewhere.
We then heard from Mere Roberts (Ngāti Apakura, Ngāti Hikariro, Pākehā), as our keynote speaker, on the morning of the 4th. Mere delivered a fantastic keynote, sharing her experiences straddling genetics and Te Ao Māori over the course of her career. Following a final break for kai and the chance to chat to one another, those who were interested visited Stephen Robertson’s lab in the Department of Women’s and Children’s Health, to hear about his research and experiences working with whānau who gift tākoha to study rare genetic diseases. Rebecca Oliver then led a small group through a hands-on workshop, in the Genetics undergraduate teaching lab.
‘Thoroughly enjoyed the conference… because the speakers were excellent, I was able to follow and learn’ – Mere Roberts (keynote speaker).
Overall, Ira Rangahau provided the opportunity for us to demonstrate Otago’s commitment to supporting Māori kaiputaiao. Many of the speakers were early career researchers from Otago, showcasing the talent in Māori researchers and the potential for these scientists to become leaders in their field, while working with Māori communities, here at Otago.
Written by Catherine Collins and Alana Alexander
90-second Science Film Comp: Gavin Bishop – eDNA for marine monitoring and population genetics
University of Otago researchers, many of whom are Genetics Otago members, are pioneering the use of eDNA in New Zealand to study a number of avenues from native species, to COVID-19 and (as you may have heard previously) in a search for the Loch Ness Monster. The basis of eDNA (environmental DNA) research is that living things are constantly shedding DNA into their environment (soil, water etc). This DNA that is left behind can help scientists gain a snapshot of what and who has been in a particular location, from large vertebrates all the way down to microbes. eDNA provides a great means to quickly capture a lot of information about an environment in a non-destructive manner and although the technique does have its limitations, it is a great starting point in many conservation and environmental studies.
Third-year Medical School student Gavin Bishop has created a short film “eDNA for marine monitoring and population genetics” featuring Genetics Otago member and PhD student Clare Adams (Department of Anatomy). His film has been selected as one of five finalists in the University of Otago Student 90–second Science Film Competition and he is hoping to win the People’s Choice award for his work.
“I am absolutely fascinated by the creativity of scientists”
– Gavin Bishop, 3rd-year Medical Student.
You can help Gavin out by heading over to YouTube and watching, sharing and commenting on his film. So during your next coffee break take a couple of minutes to watch this great short film and share it with your colleagues and friends – let’s get this snapshot of Genetics out into the community!
ECAG Election for GO Member
Genetics Otago member, Dr Lara Urban has recently been appointed to the eLife Early-Career Advisory Group (ECAG). eLife is a not for profit organisation that works across publishing, technology and research culture to encourage communication and responsible behaviour amongst researchers.
Appointments were made following a global call for applications and Lara, alongside four others from Kenya, Argentina, Japan and India, was selected from 366 applications. She is the only one of the 16 members of the ECAG based in Oceania.
“Lara Urban: Research Fellow at University of Otago, New Zealand
Lara sees supporting junior researchers as an essential part of her scientific career, whether as a student representative at multiple institutes, as a mentor, or as a leader of scientific organisations and societies. She hopes to see major change in research culture, ranging from greater inclusiveness and openness in the scientific community, to a fair and transparent peer-review system. Lara studies how statistical genomics can benefit nature conservation and be incorporated into the management of critically endangered species.” – Early-Career Advisory Group: Election results 2021
If you are interested in finding out more about opportunities, events and issues sign up to the eLife Early-Career Community newsletter, follow @eLifeCommunity on Twitter or contact Lara via email.
To learn more about Lara’s research check out our previous blog post by Mick Whittle.
Congratulations to our Recent Graduates!
Genetics Otago would like to congratulate all of the Genetics students who graduated last weekend. The students and their families were invited to a celebration, prior to the ceremony, hosted by the Genetics Teaching Programme and Department of Biochemistry.
In particular, we would like to Congratulate Brittany Jones and Gabriel Winders who are the first-ever graduates of the Master of Applied Science in Quantitative Genetics a programme convened by GO member Dr Phil Wilcox. You can read more about Brittany and why she chose a MAppSc in Quantitative Genetics here.
Avian Ancient DNA with Alex Verry
Alex Verry’s PhD research field has just broken the one-million-year barrier. Having said that, though, it’s also an area that’s so young that Alex himself wasn’t aware of it before starting at university.
We’re talking ancient DNA here, and the hot-off-the-press news of the oldest aDNA yet to be sequenced – that from million-year-old mammoth teeth preserved in the Siberian permafrost. And while the study of ancient genes traces back to the work of renowned Kiwi scientist (and Otago alumni) Allan Wilson in the 1980s, the subject itself has really taken off in the past few years. It’s only within the last decade or so that researchers have been able to extract aDNA from extinct species ranging from mammoths to cave bears to our own near-relatives, the Neanderthals.
Tragically, it’s also only decades since one species at the heart of Alex’s doctoral study – the New Zealand bush wren – itself disappeared, with the last recorded sighting of this tiny native bird on Kaimohu Island, off Stewart Island, in 1972. Like so many of our treasured endemic species, this endearing creature fell prey to introduced predators like rats and stoats.
Alex’s work, however, allows him to travel back to the time when these wrens were found throughout New Zealand. Indeed, his aDNA detective work allows him to look through the last 20,000 years or so, and especially at the effects of past climate change on populations of New Zealand’s endemic wildlife.
“There’s a strong signal of population structure caused by glaciation,” Alex says. In fact, the genetic evidence suggests the little wren’s evolution was similar to that of our national emblem, the kiwi, with populations contracting and diversifying due to fluctuations in climatic conditions.
And it’s the chance to make an important original contribution to our understanding of New Zealand’s past that has provided excitement, motivation and personal satisfaction.
“No-one had looked at bush wrens before at such a fine scale,” Alex says.
Yet he’s far from a ‘one species researcher, having also worked on other native birds, such as the iconic moa – including taking part in archaeological digs. His willingness to “get involved in things” has seen him out in the field with living taonga, such as takahē, as well as with the preserved remains of their long-departed relatives. For instance, some of his ancient DNA work has resolved a long-standing puzzle on the origins of North Island and South Island varieties of takahē.
“Don’t be afraid to ask – and volunteer” is Alex’s straightforward advice for budding geneticists.
As for his own journey to the soon-to-be-completed PhD, it’ll come as no surprise to learn Alex originally wanted to be a palaeontologist (well, at least when he was a dinosaur-fixated 5-year-old). But his enduring “interest in the natural world” led him to take biology at university, where he stumbled across ancient DNA for the first time.
“What really drew me was listening to a lecturer describing [DNA in] ancient penguin bones,” he recalls. “I thought, ‘This is crazy – can you really do that?’”
As for the future, he’s ready to spread his wings (well, as a bird specialist, why not?!) – possibly with post-doctoral aDNA research in Europe.
Eventually, though, he’d like to end up back home in New Zealand, working in museums or in conservation.
“Or even running my own laboratory.”
Written by Mick Whittle
Images supplied by Alex Verry
Bacterial Biomes, Colorectal Cancer and Different Diets – Rachel Purcell
“I think you would be hard-pressed to find any disease that microbiome is not linked to at the moment.” Rachel Purcell commented when I joined her for a discussion about her research. Our microbiome is the genetic material from all the microbes that live in the human body, including bacteria, fungi, protozoa and fungi. The gut microbiome focuses on just those organisms found in the gastrointestinal tract. This is where Rachel’s research sits. She is interested in how the microbiome affects various disorders. This is mainly colorectal cancer, but also includes diseases such as diverticulitis, appendicitis, and IBD. Her specific area of interest at the moment is how the tumour microbiome, or the gut microbiome, influence the bodies responses. The microbiome may have an effect on the progression of the disease, or influence treatment methods.
Rachel explained that the gut microbiome is well characterised, and we have a good idea of what microbes are present. Rachel uses a technique called RNA-Seq, which allows her team to catalogue what is present, with the added benefit of providing information about the functions that microbes might perform. Rachel explained “microbiomes are very unique, and simply counting what is there is not giving us a good idea of what they are doing. Our approach is to look for functional links and then form our computational data, then we can pull things out, and then design experiments that we can carry out in the lab to see whether any of those actually reflect what we see in the sequencing data.” Rachel also explained “there is quite a lot of redundancy of function. Two people can have completely different microbiomes, but they can both function the same. We are trying to not just look at the ‘bugs’ but look at the function. We do try to resolve it down to the species level sometimes because you need to do that for lab work, but there is such a crossover.”
Characterising different microbiomes in all types of patients and getting an idea of what functions they might perform, is paving the way to understanding how our gut microbiome might affect our susceptibility to disease, and possibly treatment. Rachel explained that although this research is in its infancy, there are certainly possible treatments that can arise from the research. “With microbiome, there is always the possibility of manipulating it, which is a lot easier than trying to change our host genomes or our host responses. Even looking at what has been done so far, there is definitely a lot of potential for the therapies, I think.”
Background
Rachel grew up in Ireland and has done her fair share of globe-trotting. Her travels have left her fluent in English and French, she also speaks a little Italian and Spanish, and a little Te Reo. Growing up in Ireland, Rachel reflected on her education in convent schools “studying science in a school where a lot of the text was redacted, definitely piqued my interest. I had a nun teaching me science and it was the strangest experience. A lot of things we glossed over, I thought ‘l want to know what this is about’. For a long time, I wanted to be a scientist, from a very early age.” In line with this plan, Rachel completed a Medical Laboratory Science and then a Biomed honours degree from University College Cork.
An opportunity presented itself for Rachel to attend the Pasteur Institution, an internationally renowned biomedical research institution in France. She completed her masters in bacterial genomics here, joking about the time “way back when it took two years to sequence the bacterial genome.” This research is where Rachels interest in bacterial genomics began. Following her master, however, she followed her interest in cancer research and went on to work in diagnostic cancer labs. “But I was always keeping an eye on what was going on in the bacterial genomics field and it was cool to be able to put the two things together—micro and cancer genomics. I guess I have a background in both because when I went back to work in diagnostics it was always in histopathology, and always looking at cancers.”
Seeking a change of location, and wanting to emigrate somewhere that spoke English, Rachel and her husband opted for New Zealand over Canada. She has been here for over sixteen years and raised her children here. She now resides in Arthur’s pass, enjoying the scenery and the calls of Kiwi in the night.
Colorectal Cancer
When I quizzed Rachel on which burning question she would most like answered, she responded “It would have to be about cancer prevention. Can we actually prevent a lot of the cancers that we are seeing? Here and everywhere, I do not think we are putting enough effort and research into prevention. We are targeting the wrong end of cancer, trying to treat people and come up with different solutions. If I could do anything, it would be in the preventative space. For example, trying to predict who is going to get these cancers, particularly sporadic cancers, and some way that we can prevent them. Whether it is by targeting the microbiome with faecal microbiome transplants, or even food interventions. I would love to think that that was going to be the way of the future.”
Rachel suggested that screening from a young age would be a beneficial step. “Because we are seeing quite an increase, particularly in colorectal cancers, in younger people now, under the age of 40-50, which we did not see many of before—it used to be a disease of old people. I mean, it has got to be something lifestyle-related. It is not going to be hereditary with the way things are changing so quickly, and I think the most obvious thing is what we are taking into our bodies, our food, and our diet, in general, has changed so much over the last 30-40 years.
Rachel also explained that simply screening people and informing them of a cancer risk would be inadequate, particularly if diet changes are a part of treatment.” When it comes to diet, a lot of it is social as well, and down to education. It is not just about trying to put interventions in place, it is a whole package.”
Education
Education was a theme that came up in my discussion with Rachel. Although her research does not involve genetic engineering, many people associate genetics research with genetic modification. I asked Rachel how well educated the public is on these matters. “In New Zealand, we are lagging behind, and there is a hangover of fear about genetic engineering…I think some of it is probably political. People do not understand that much of what we eat, use, and grow is genetically engineered. The idea that it is three-headed fish and stuff, it is an issue around education for sure. We are not doing that very well… we are very far behind.”
In regard to how we might go about instilling confidence in genetics research in the public, Rachel suggested “we need more education, right from kids in school, about how to assess where they are getting their information from. With the internet, you type something in and take the first hit. You do not know how to tell if your information is correct, or whether it is an imbalanced source, that is such an issue these days. Many people get their information from social media, which is scary. As scientists, we used to have public trust, and we were the voice of reason and truth, but that is all changed with social media platforms. Scientists are not present enough in that space, fighting the mystery. Part of our job now is to fill the void, because if we do not fill the void, it is filled with rubbish. A lot of us probably thought, in a sense, we were above that. We actually have to get down and dirty with the public. We have got to start from a young age. Kids need to learn how to actually evaluate the information that is out there, and I do not think that is happening.”
With the possible implications of her research, and the possibility of preventing cancer, it is understandably frustrating that the public is still lagging behind in their understandings of what genetics research is, how it works, and the benefits it could provide. In Rachel’s words, “I think it is time for change.”
Written by Don Sinclair
Images Supplied by Rachel Purcell