Dr Robert Hillary on analysing genetic, epigenetic, and other omic data in large health studies

He talks about his research, which focuses on finding biomarkers in our blood that could help predict who is at risk of getting a particular disease and the hope that his work will help improve health care, the major challenge in his field because the people who participate in health studies do not always represent the wider population, and finally, how he stored sheep brains in his freezer for a public engagement event.

Robert undertook a BSc Honours in Biomedical Science at the University of Galway from 2013-2017, gaining experience in wet lab techniques and biomedical device design through summer internships in Ireland and through an Amgen Scholarship at the University of Cambridge. He moved to Edinburgh for his PhD studies and swapped pipettes for programming during his time on the Wellcome PhD in Translational Neuroscience from 2017 to 2021. Robert has published over 10 first-author publications and was recently awarded the Sir Kenneth Mather Memorial Prize from the Genetics Society for outstanding performance in population genetics during his PhD.

Following the completion of his PhD, he undertook a short six-month postdoctoral position with his PhD supervisor Professor Riccardo Marioni at the Institute of Genetics and Cancer where he worked on multi-omics approaches for the early detection of cognitive decline. He was then awarded a one-year MRC-funded Fellowship to lead a collaborative epigenomics project between the University of Bristol and University of Edinburgh (2022-2023). In 2023, he will begin a four-year Immediate Postdoctoral Fellowship from the British Heart Foundation to work across the University of Edinburgh, University of Bristol, University College Dublin and Charité University Medicine Berlin. He will primarily be working with Professor Cathie Sudlow to lead a project on the use of post-translational modifications to identify new biomarkers for cardiovascular disease through the Generation Scotland resource. Robert also serves as Secretary of Molecular Epidemiology UK and is passionate about teaching and increasing access to third-level education.

Could you briefly summarise your work?

My research is focussed on finding biomarkers in our blood that might help to predict who is at risk of getting a particular disease. This mostly involves analysing genetic, epigenetic and other omic data types in large health studies such as Generation Scotland and UK Biobank.

Why is your research important? How is it relevant to people's lives?

If we find molecules in our blood that start to change very early on in a given disease, it could allow us to use simple and non-invasive blood tests in order to find individuals at high risk for that disease some years prior to symptom onset. This also could possibly let us target those molecules via drug or lifestyle interventions to reduce disease risk. This would be much cheaper, easier for patients and more scalable than relying only on scanners or biopsies to monitor disease progression.

What are the major challenges in your field?

The data that we work with, such as genomic data, can be very large with lots of people and lots of genetic information for each person. This can make it tricky to manage and analyse these data. However, we are always getting better at coming up with methods to tackle these problems. Aside from this, a major challenge and issue is that the individuals we have currently recruited to health studies are not always representative of the wider population. This lack of diversity means that the results we find are limited to a small portion of the population, and this is something we need to address as we move forward in health data research.

What inspired you to be a scientist?

I grew up on a farm in the West of Ireland surrounded by nature and animals, so I often found myself thinking about biology and how different biological systems worked. I didn’t have much exposure to science in truth when I was young. I am a first-generation graduate in my family and I come from a working class area and background. I was fortunate to attain government access grants and scholarships to support my studies at University. I picked biomedical science before transitioning to bioinformatics during my PhD and have honestly never been bored in all that time. I count myself very lucky and I am very grateful for what I get to do.

What do you like best about your job? What do you like the least?

I love that I get to work with health data and hopefully contribute to improving healthcare down the line with my research. We take this very seriously and ensure that people’s data are secure and anonymised, and that we maximise their often voluntary contributions in providing health data. My least favourite part is that academia can still be extremely prohibitive to many from underrepresented and disadvantaged backgrounds. There is still a long way to go towards ensuring diversity and equality in all aspects of our sector. We also need to uphold staff and student well-being by tackling the instability or unsustainability that can come for many with issues such as temporary contracts and role conflict.

If you could have tea with another scientist (alive or dead), who would it be? What would you talk about?

It isn’t one person necessarily but I have always been fascinated by scientific achievements or endeavours in ancient civilizations. People have always had scientific minds and exercised scientific methods so I would love to have met someone for instance interested in improving farming practices in their time. Much of what they learned and what we continue to learn comes incrementally from people gone before us and ultimately it’s a collaborative game. I would love to see how they approached their problem and compare its parallels with science practices today – I’m sure there would be many parallels.

What is the most unusual thing you have done as a scientist?

It would probably be when I had a sheep’s brain in my freezer and then having to transport it to a school for a public engagement event in 2018. A few neuroscience researchers at time, including myself, ran a stand at the Midlothian Science Festival where we taught school-going students about brain health and anatomy. The context was crucial here.

If you weren’t a scientist, what would you be doing?

I’ve always wanted to work with animals, in particular dogs, ideally in a charity setting. I also really enjoy teaching – primary school teaching was my second choice in school but ultimately biomedical science took me down my current career path.

Do you have any advice for people who want to go into this field of research or start a career as a scientist?

I appreciate that there can be so many barriers one may see in entering a career in science or in genomics and I am not qualified to comment on those. However, the major pieces of advice I can give is to follow your passions if the opportunity comes before you and to surround yourself with supportive people. We all face setbacks, uncertainty and disappointments at times, so the importance of a network of compassionate people around you really cannot be overstated. Collaboration as well as cooperation are central to science.

What do you think are the major challenges facing humanity? How can science help?

We face many issues surrounding sustainability and we need to be mindful of this as scientists. For instance, our large datasets can take up lots of computer storage and we need to engage in best practices to reduce our carbon footprints in this context. However, I believe that in genomics in particular there still exists a real lack of diversity in terms of the populations that we have covered in health studies. We should invest more in underrepresented groups in order to ensure that the results we find are generalisable to the entire population rather than just a segment of it – we need to avoid any perpetuation of existing health inequalities as we move forward.