Science and Innovation

Interview by Claudia Fernández-Arévalo Llop for Barcelona Science and Universities and Núvol.

Dr Núria López-Bigas, ICREA researcher at the Barcelona Institute for Research in Biomedicine (IRB Barcelona), is a pioneer in the development of bioinformatics and computational biology approaches to identify DNA mutations responsible for the formation and development of cancerous tumours. A biologist with a PhD in molecular genetics of deafness, López-Bigas made a transition to bioinformatics during her postdoc at the European Bioinformatics Institute (EBI). Since 2006, he has been leading a research group in Barcelona with a genomic approach to the study of cancer, using bioinformatics as the main tool. His exceptional work was recognised in 2023 with the Lilly Foundation Award for Preclinical Biomedical Research.

I would like to start by asking you about your career; in other words, what has brought you this far, what inspired you to dedicate yourself to science?

When I was a child, I had no reference in science, but I started to really like biology when I was at secondary school, and that’s why I decided to do this degree. At the beginning of my studies, I wasn’t sure where to go and what specialisation I was interested in, but little by little I discovered the world of research. In the third year of my degree, I became really interested and decided that this was the path I wanted to follow. Since then, I have progressively immersed myself in this world, advancing to the doctorate and reaching this point in my professional career.

In 2023 you received the Lilly Foundation Award for Preclinical Biomedical Research, which is a great recognition.

All recognition is very much appreciated when you do research. In the daily routine, the work is constant and driven by the need to advance in the search for answers to specific questions. It is not done for the sake of recognition; that is not the goal. When there is social recognition for our work, as in the case of this award, we are very excited and it gives us great satisfaction. Although the prize bears my name, I see it as a collective recognition of the work done by my research group, because I never do anything alone. It is a witness to the joint dedication of our team.

Since 2006, you have been leading a research group in Barcelona focused on the study of cancer from a genomic perspective, using bioinformatics. How can bioinformatics help to understand the mechanisms that lead to the development of cancer?

Bioinformatics plays a fundamental role in the study of cancer from a genomic perspective. When we analyse the genome of tumours, the amount of data is very large and the bottleneck is in the analysis of this data. Genome sequencing is relatively simple, because it is done in an automated way by specialised machines. However, analysis of the genome of a tumour generates a wealth of information, relating to its development, the genetic mutations present, the mutational agents involved (such as ultraviolet light or tobacco), or even the chemotherapies that can induce mutations in the DNA. This wealth of information requires a thorough analysis, and this is where bioinformatics is fundamental: it allows us to have a deeper understanding of tumour development, as it is able to perform a detailed and efficient analysis of mutations, mutational processes and other factors.

Five years ago, in 2019, we also interviewed you from Núvol for an article entitled “25 scientists you should know”. In that interview, you told us about the development of bioinformatics tools, and you highlighted IntOGen and CancerGenomeInterpreter as the most relevant ones. How have these projects evolved in the last five years?

Regarding IntOGen, since then we have made two very important updates to the database. To put it in context, with IntOGen we compile a compendium of cancer genes from 70 different types of cancers. This is derived from the analysis of thousands of genomes. With the last two updates, we have incorporated more tumour data and improved some aspects of the analysis, so the gene digest is more complete.

Have you been able to share these advances with any publications?

In 2020 we published an important article that was highly cited, where we explained in detail the results obtained with the latest update of IntOGen. In the article, we set out all the benefits of being able to see more systematically which genes cause cancer and in which tissues.

And how has CancerGenomeInterpreter evolved?

In the case of CancerGenomeInterpreter we are also making a lot of progress because we have started a project called CGI Clinics. We coordinate it, but we collaborate with several hospitals in Europe with the aim of implementing this tool in clinical practice. It will be interesting to see how it evolves over the next five years, so if you interview me again in five years’ time I will be able to tell you about it!

How does this relate to precision medicine?

Increasingly, information from the tumour genome is being used to determine the most appropriate treatment for patients. Interpreting this information is complex, as a large amount of data is generated; therefore, informatics tools are needed to integrate a lot of information and interpret the meaning of variants. This, in turn, facilitates the assessment of the most appropriate treatments for a particular patient.

Our contribution with the data generated from the analysis of thousands of tumours is to systematise the information and analyse it with computational tools to provide a structured interpretation. Through this systematised analysis, we aim to provide useful information that can help healthcare professionals make informed clinical decisions. This approach allows the wealth of genomic data to become a resource that directly benefits patients by facilitating the choice of the most appropriate treatment for each tumour.

How is the gender perspective dealt with in the studies or projects you carry out with your group?

It is fundamental to bear in mind that in our research we always work with data from patients, both men and women. We recognise the importance of considering this gender perspective, since some types of cancer are mostly diagnosed in women, such as breast cancer, or in men, such as prostate cancer.

Do you have a way to avoid gender bias?

In our research, we make sure that we do not generate any bias in the results, either one way or the other. We are currently conducting specific studies in which we analyse tumours in men and women separately. This approach stems from the recognition that there may be differences in the incidence of some cancers which, although common in men and women, may vary.

Could you give us an example?

For example, in the case of bladder cancer, we observe that it has a higher incidence in men. Going into this level of detail allows us to better understand the particularities of each cancer and improve our understanding of the risk factors and underlying mechanisms.

According to several studies and data, in Spain, 5 out of 10 PhD students are women, which represents parity in this field. However, only 2 out of 10 scientific management positions are occupied by women. Do you think that women are well represented in the world of science?

Indeed, what you explain is known as the “scissor graph”, reflecting the gender disparities that occur at various stages of scientific and academic careers. This trend is observed in many disciplines, including biology. In this graph, in fact, it can be seen that in fields such as biology, there are more female students than male students. And that about half of the PhD students are women and half are men. However, as we move through the stages of a scientific career, there are notable differences and the proportions cross, there are more men than women. Especially in leadership positions such as group leaders, professors or directors of academic institutions.

And why does this imbalance exist?

Although it was hoped that over time these inequalities would be corrected with the increased participation of women in science, the reality has shown that there are other, more complex factors at play. Issues such as gender stereotypes, prejudices, social expectations and difficulties related to work-life balance are all factors that contribute to this persistent gap. In other words, it is not a question of more women studying science, but more complicated issues. There is a need to foster a more inclusive and equitable environment for all people in science, regardless of gender.

What actions do you think could promote the presence of women in management positions in the world of research?

From my point of view, I think there are two main factors. The first is motherhood. This stage often coincides with key moments in a scientist’s career, such as the completion of a PhD, the post-doctoral stage or the start of an independent line of research. I think it is essential to bear in mind that motherhood is a relatively short period in the professional life of a scientist or any woman, and it is a period that must be protected, as it is essential that, as mothers, we have the space to exercise motherhood properly without this affecting our professional future. It is necessary to protect this time and prevent women from falling out of the system so that for one year they can devote themselves more directly to being mothers.

It is important to ensure that women have the space and support they need to exercise motherhood properly without limiting their career prospects. The first factor is relatively easy to solve with certain regulations, but the second is a little more complicated, it is what we call unconscious bias.

What is unconscious bias?

This is a more complex issue because, although we try to be aware of it, we are deeply ingrained in the way we perceive the ability of men and women to lead a research group or run a company, for example. This bias is deeply rooted in our perception and can manifest itself in small everyday things, such as the textbooks we used in school or the models we see on television. And, in the end, it is a crucial aspect that can significantly influence decisions related to leadership and career opportunities.

I think it is essential to pause and reflect, to understand this issue and to be aware of this bias before making a decision when hiring or appointing someone to a management role, for example. We, for example, try to keep this in mind when interviewing new group leaders at IRB. Awareness of this phenomenon is the first step in counteracting it, and this practice can contribute to fairer and more equitable decision-making.

It is important that this awareness be promoted more widely in society and in professional settings. Training, raising awareness and promoting a culture that values the contributions of all, regardless of gender, are key elements in overcoming this bias and fostering more egalitarian environments.

Is there any personal experience or challenge that you have faced as a woman in the scientific field? How did you overcome it?

Well, these things are often hard to identify, at that moment it is not easy to say: “That happens to me because I am a woman”. However, it is true that when I look back and start reflecting on it, I realize many things that have probably come about because of being a woman.

The clearest situation that comes to mind is a time when we brought a person from another country onto the team. We were developing a project on a topic in which my lab and I are experts, and he had less knowledge. We explained to him what we were doing, and we sent him the paper we were working on. Then, he told me that it should be reviewed by another scientist friend of his who was also an expert on the subject, as if he didn’t quite trust me.

If I had been a senior scientist, I am sure I would not have proposed that another senior scientist review it. This case was a pretty clear situation of what we call mansplaining, but there are many others that are very subtle and that, when added up, make you think that some things would be different if you were a man.

Finally, what advice would you give to young women who aspire to be future scientists?

Well, I would tell them that it is a very beautiful career! First you need to see if you like it, because it is a very long career. I always recommend enjoying every moment: the master’s degree, the doctorate, the postdoc… You can’t do a doctorate just because you will like it later. It’s four years, it’s very long, and it’s very important to take advantage of each stage: you don’t know what will come later. However, if you enjoy research, you like biology and you are eager to learn continuously, it is a fascinating and very stimulating career.