Dr Elena Bernabeu on understanding the association between multiple omics signatures and human traits

She talks about the quest to better understand sex differences in the omics that could explain why certain diseases are more common, and why some drugs more effective and beneficial, in one sex than the other, how in her childhood she was fascinated by the four-letter code of DNA that programmes life in all its forms, and how she believes that science is a collaborative effort, which is why choosing the right team can be more important than choosing the right organisation.

Elena studied Biotechnology at the Polytechnic University of Valencia (Spain) from 2012 to 2016, gaining both wet lab experience in animal and plant molecular biosciences and dry lab experience through several internships. She completed her undergraduate thesis on multi-omics integration under the supervision of Dr. Ana Conesa and Dr. Sonia Tarazona. In 2016, she moved to the UK to pursue a Master's degree in Bioinformatics at the University of Edinburgh after receiving a La Caixa scholarship. She completed her master's thesis on transcriptomics in immunotherapy under the supervision of Dr. Nizar Batada.

From 2017 to 2021, she worked towards her PhD in Genetics and Genomics at the Roslin Institute under the supervision of Professor Albert Tenesa and Dr. James Pendergast, focusing on gene by sex interactions in the UK Biobank. In 2021, she moved to Riccardo Marioni's group at the Institute of Genetics and Cancer (IGC) as a postdoctoral researcher, where she is deepening her knowledge in trait prediction, machine learning, and multi-omics. She hopes to use her skills to further deepen our understanding of sex differences across the phenome (both at the molecular and other levels) to contribute to equality in healthcare.

Could you briefly summarise your work?

My work consists of understanding the relationships between multiple omics signatures (whether from the genome, transcriptome, or epigenome) and complex human traits, using large cohorts such as the UK Biobank or Generation Scotland. During my PhD, I focused on sex differences in the genetic architecture of the human genome and phenome, and in my first postdoc, I shifted focus to the epigenome.

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

Understanding sex-specific differences in the omics can give us insight into sex-specific signaling pathways and explain why certain diseases are more common in one sex than the other. It can also explain why some drugs are effective in one sex while ineffective or even harmful in the other. Characterizing these differences (among others) is critical if we are to arrive at treatments that are appropriate for all populations.

What are the major challenges in your field?

In the past, scientists have generally ignored sex differences in genomic studies (as well as others), although in recent years there has been a shift that recognises their importance. Although large cohorts have been successful in genotyping and phenotyping large numbers of people, these data reflect only part of a much larger biological picture, with other omics lagging behind due to technical and economic limitations and challenges. Cohort diversity is also insufficient, limiting results to a small portion of the human population.

What inspired you to be a scientist?

When I first learned about DNA, I became fascinated by how a seemingly simple four-letter code could "programme" life in all its forms, and that led me to seek out an undergrad with a large genetics component. This was however a difficult decision, given my interest in other fields as well!

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

During my studies, I worked mainly in the wet lab, and I found that the day-to-day work there was not for me. In contrast, when I got into bioinformatics, I found the work incredibly enjoyable because it felt like constantly solving puzzles using code, so I turned to the dry lab in my postgraduate studies. I also much preferred the "forest" versus "trees" outlook on complex biological problems. Further, even though we all contribute only a very small portion of our knowledge to the global understanding of biology and human health, being a part of that growth is very uplifting and motivating.

What I like the least is the job insecurity, the seemingly only path to "success" in academia ( becoming a PI), and the "publish or perish" culture that rewards quantity over quality. Despite the collaborative nature of science, it can also feel quite individualistic at times.

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

The first names that come to mind are Rosalind Franklin or Marie Curie - but when you are involved in science, you realize that while discoveries seem to be attributed to a few big names, it really takes a whole village, and that while effort and hard work play a role, a big part of success is being in the right place at the right time, which is why I try not to glorify individuals too much. Ultimately, I would like to have tea with scientists who have proven that you can make a significant contribution to our body of knowledge without being clouded by your ego, while promoting a healthy and supportive work environment.

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

Unsure if this is unusual, but I definitely did not know how much cake academics eat!

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

Most likely something in a creative field, be it architecture, graphic design, industrial design, interior design, etc.

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

Whatever your interests, make sure you enjoy your daily work, and surround yourself with kind people who share your values and motivate you. Science is a collaborative effort, and your team is ultimately more important than the institution or research topic you want to pursue!

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

Whilst I feel very underqualified to answer this question I think the age-old problem of global inequality represents some of the ugliest attributes of humanity. Whilst science might not be the field people think of to directly tackle social issues, it can do its part by acknowledging and addressing bias, supporting research that seeks benefits for the whole of the population and not just a minority, and creating a welcoming environment and opportunities for everyone regardless of where they come from.