Vasilios Raptis on human polygenic traits

He talks about how genome-wide and environmental factors influence human polygenic traits, how the social environment (e.g., family, partner ) can affect phenotype but its effects are usually ignored in genomic analyses, the underrepresentation of non-European populations in human genetics research, and the "publish or perish" culture in academia.

Vasilios is a quantitative geneticist with a background in biology and genetics. He obtained his undergraduate degree in Biological Science at the Aristotle University of Thessaloniki in 2020 and his MSc in "Quantitative Genetics & Genome Analysis" from the University of Edinburgh in 2021.

He joined Prof. Albert Tenesa's group at the Roslin Institute, first as a Master's student investigating the genetic background of COVID -19 susceptibility, and later as a research assistant working on the genomics of human couples.

Starting next academic year, he will pursue an interdisciplinary PhD with integrated studies in Advanced Care, based within the Academy of Advanced Care Research Centre (ACRC) at the University of Edinburgh's Little France Campus. His research will be on the study of genetic risk factors for delirium and will be supervised by Prof. Albert Tenesa (Roslin Institute), Prof. Alasdair MacLullich (Usher Institute) and Dr. Tim Cannings (School of Mathematics).

Could you briefly summarise your work?

In general, my research is in the field of quantitative human genetics. This involves the computational study of how genome-wide and environmental factors influence polygenic traits in humans. Polygenic traits are traits that are influenced by a large number of genes, such as many commonly inherited diseases. In my current role as a research assistant, I aim to understand how non-random mate choice and interactions between spouses in humans influence genomic and transcriptomic variation at the population level.

Beginning in September 2022, I will begin my PhD project investigating the genetic basis of delirium, a common neuropsychiatric disorder that leads to acute deficits in attention and cognitive abilities.

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

Most human traits are polygenic, but we still know little about how our genome affects them, for example, which genes/gene versions are responsible for a complex disease and what biological mechanisms are involved. A better understanding of such processes may enable us to predict which individuals are at higher risk for disease because of their genetics, or to discover new treatments that are genetically supported (one reason why certain drugs have side effects or are ineffective in some people may be because of each person's unique genetic profile).

In addition, the social environment (e.g., family, partner), among other factors, may have an impact on phenotype, but this is not usually considered in genomic analyses. Studying the effects of the various sources of social environment can help us better understand how polygenic traits are shaped and how we can avoid bias in their study.

What are the major challenges in your field?

A major challenge in human genetics research is the underrepresentation of non-European populations. Current large-scale genomic studies are primarily conducted in humans of European ancestry, so the results and findings from these studies may not be applicable to other populations due to differences in genetic architecture. However, efforts are underway to increase the representation of non-Europeans in genomic datasets and to develop approaches that allow for more robust analysis of cross-descent cohorts.

What inspired you to be a scientist?

I have always enjoyed learning about nature and animals, especially about processes that are not obvious at first glance, such as evolution or how genes work. During my biology studies, I also became interested in bioinformatics, computational methods that can make sense of seemingly chaotic amounts of biological data. Quantitative human genetics seemed like a good combination of bioinformatics, genetics, and a bit of evolutionary biology, even though that was not something I had in mind from the beginning.

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

The best part of my job is when I make an interesting discovery, no matter how small. I also enjoy learning new things about the subject I am studying, and I am glad that's part of my job.

I do not like the competitive nature of academia and the "publish or perish" culture where you have to constantly submit results. As for day-to-day work, the least enjoyable part is writing non-scientific reports and applications.

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

Maybe too cliché, but I would say Charles Darwin. We would talk about evolution and his trips around the world.

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

Brewing beer and making pickled cabbage for an undergraduate course. Unfortunately, we didn’t get to try them for safety reasons.

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

Maybe a photographer, this is the hobby I am most involved with lately.

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

In quantitative genetics, you will most likely spend a lot of time debugging and trying to find errors in your code. In my opinion, it is very useful to know how to search the Internet for the results you want.

In general, do not neglect your personal life and do not take on too much. At the end of the day, no career is more important than your health and well-being.

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

A major challenge with which I am familiar is the ageing of the world's population. The proportion of older people is increasing in most countries of the world, including the United Kingdom. This is a consequence of historically increasing life expectancy and declining birth rates. Apart from the economic and social consequences that an ageing population can have, it could also mean that more and more people will be affected by age-related health conditions such as cancer, dementia or cardiovascular disease.

Science can help better support people suffering from such diseases by providing more effective treatments or preventing disease in the first place. Human genetics, in particular, can play a role in this by discovering how our genomes increase or decrease the likelihood that we will be affected by age-related health conditions.