Back to the Future: How Is Ancient DNA Research Changing Medicine?

Just eight months ago, the laboratory of the Department of Human Medical Genetics at the Faculty of Medicine of Vilnius University was delighted to receive new equipment and reagents. We followed on social media as researchers were eager to test them for genetic research. But this was only a tiny part of the new things to come—even more exciting was the moving to the brand new premises at the Medical Science Centre of Vilnius University. In the autumn of 2024, the team of scientists, their research materials and projects moved into a state-of-the-art space. Today, I found them already settled and working here; I was lucky to interview one of the senior researchers at the Centre, Associate Professor Dr. Ingrida Domarkienė.

Ingrida, considering the changes in laboratories in recent years, can we say that 2024 became a breaking year in terms of technological opportunities for geneticists at Vilnius University Faculty of Medicine? Can you name any significant changes since moving to the new Science Centre?

Looking back at where we started––from the first time I put on a lab coat to this chair in this office— it’s been a long path, and things were very different initially. But that’s what drives me! Sometimes, I sit back and think: How much has been done, how many contacts have been made that are already bearing fruit, how many students have graduated? There were other science centres in the past, too. But what Vilnius University and its Faculty of Medicine have created is a state-of-the-art science building. Overall, the Baltic countries are developing biotechnology rapidly. Now we must not only build centres but cooperate—that’s how we will become stronger. We have enough talent and curiosity in Lithuania. Until now, the only things lacking have been equipment, resources and the ability to travel and invite colleagues from foreign laboratories. We are now generating new data, so I see the prospect of sharing it, contributing to global databases, and creating our databases. It took 20 years to make this centre, three deans and several generations of students have changed! We have finally completed procurement, built and opened the centre, and now we can sit back and enjoy it. But I feel that the real breakthrough in human resources and potential for science is yet to come... With the opening of this building, there are already some shifts within research groups, new ideas and new goals. The future is bright, and we are on the brink of exciting discoveries.

One of the most critical expectations of the next generation of researchers is the availability of cutting-edge technology and equipment during their studies. Prospective students also take the relevance of research carried out by research centres and researchers’ teams seriously. In human medical genetics, Vilnius University proposes to study human weight changes, ageing processes, birth complications, and even the genome structure of the Chornobyl disaster survivors. This research touches today’s society in a very diverse way. In retrospect, how would you see the opportunities that have now opened up for young genetics researchers?

I think we provide students with the best facilities for learning. Some instruments are extremely sensitive and can only be used after training. Still, from the start, students can see what an accredited laboratory and instruments look like and are encouraged to pick up all the instruments they can. If they are doing their final thesis in the field, they work in the labs with us and see the entire „kitchen“. We are always thinking about how to renew our equipment.

Ideas for research topics come from many different paths. As late David Lynch once said, “Ideas are like fish”. They’re always floating around, so you must sit and pay attention. Sometimes, unexpected things stir something in your mind, and you must write it down. It’s like planting a seed, and then it grows. At times, a message or a sentence heard at a conference inspires a thought. It was the same with the Chornobyl survivors. We were aware of this special group of people. Of the approximately 7,000 people sent to Chornobyl from Lithuania, there is about half of them left. We wanted to collect their stories and somehow help them. These people have faced a significant turning points, their status changed depending on political decisions. Analysis of their DNA has shown that their genomes confer some resilience but that a substantial proportion of the subjects are prone to anxiety disorders and depression. So, although this was not the primary aim, the research results showed a clear need to help this group, e.g. to open up a green corridor for them to receive psychotherapeutic treatment.

Ancient human DNA research has so far been an exciting adventure, engaging foreign researchers, and promoted on the history channels. However, you and your colleagues took up the field last year and immediately got involved in international projects. Tell us about this innovation.

We were delighted to go to the Max Planck Institute last year, where we were trained to work with ancient DNA, which is fragmented, fragile, degraded, and much more challenging than DNA from living organisms. We learnt how to avoid contaminating the sample with our cells: The work must be done in the proper premises. We have now set up a laboratory at the Medical Science Centre where we will be able to work in a cleanroom. We involve students in the projects to show them how different the task is: We have to work in special suits, just like our doctors wore during the COVID pandemic. After each sample, everything must be cleaned sterile, and only then the following sample could be processed. Not everyone can work in such conditions. Sending samples abroad for testing would seem more straightforward, but then we would have to wait a long time for the results, and now we are independent and can do everything ourselves and do it quickly, based on emerging needs.

But you, too, will soon be in high demand: The pace of archaeology in Lithuania is fast, and there will be a lot of material!

Yes, that requires projects, and that’s why we’re preparing a new generation of young professionals. So they will be ready to work with the specific materials in the future.

We know that research into the genetics of ancient people can give us fascinating insights into the past, but why is it relevant to us today, living in a very different environment?

We have a vast collection of samples. Who else but ourselves should care about who lived in this territory before us, how and where they came from, and what genetic heritage is left in us? Now we can discover what diseases those people had and how we are different from or similar to them.

A hundred years ago, the archaeological record was unfortunately used for geopolitical purposes, with enormous implications for international politics and wars. These were used to decide where the authentic territory was. Aren’t you worried that they will be manipulated if genetic test results are presented?

That is an excellent point, and David Reich makes it in his book “Who We Are and How We Got Here?”, namely that we, as scientists, have to be cautious, but at the same time, we have to be careful not to set taboos, and to still talk about things that are of public concern. I think that there will undoubtedly be propagandists and profane people who will try to comment on the results of genetic tests. Still, in such a case, it is our duty to be straightforward and explain to the public what biological differences, similarities and migrations between people mean.

Well, perhaps genetic research could be the key to reverse the process. Whereas before, a six-pointed star was put on the shoulder based solely on outward appearances and a name, now we would find that such marking is no longer meaningful because we all have a certain percentage of specific genes.

Yes, we all share a history; ancient remains can tell us even more engaging narratives. Archaeology has not yet answered many questions, and our cooperation could help us integrate each other’s information and arrive at a familiar picture. We must work together: Anthropologists, geneticists, archaeologists, historians, chemists, linguists, ethnographers...

However, ancient human DNA genetics is different from medical genetics. How close, if at all, are the two areas?

Genetics is the same; people are people, but if medical genetics is about health and disease, then by working with ancient DNA, we can reconstruct what people might have looked like and what diseases they might have suffered from in the past in a different environment. This was done with the remains of Gregor Mendel himself, who is regarded as the “father of genetics.” Upon his relatives’ consent, the samples were used to reconstruct what he looked like and what diseases he might have had.

But for now, we are only talking about a human being. And if archaeologists find an interesting ancient animal, will you take on the research? In zooarchaeology, there are difficulties in trying to determine whether a bone belongs to a pig, a domesticated animal, or a wild boar. This may be a key question for analysing ancient diets.

I wouldn’t say no because we are still in the early stages of working with ancient DNA. More generally, an idea for the future would be to set up a centre for research on the human past to study the complete picture of the past: Humans, the environment around them, living and non-living organisms, and even viruses present. Humans “carried” the microbiome with them when they migrated, and it would be great to see the whole holobiome. It’s also exciting to study how humans were once affected by climate and how they adapted.

We tend to judge our health by comparing it to that of other countries, and sometimes we look back to our parents or grandparents. Could we wish that a modern individual had the health of ancient human beings, based on DNA studies? Perhaps people’s health varied in different eras, but is it possible to say that once there lived people with better health than us?

I don’t know what those ancient people would do now. Probably, they would not survive. It isn’t easy to extrapolate from the past because now we have entirely different living conditions. These people’s lives were usually short and complex, as evidenced by their worn teeth and early age of death. They were in a constant survival mode, suffering both hunger and cold and consistently trying to save themselves. The continuous search for solutions and the discovery of herbs by shamans, which later became medicines, contributed to our experience and progress in medical science today. Now, we have plenty of knowledge and can help ourselves. Still, civilisation has brought other challenges—we have lost touch with nature and are under a lot of psychological stress. However, I believe human beings have survived because they are infinitely strong.

Perhaps we can sense your and your team’s enthusiasm by discovering what new research topics you are dreaming up, or maybe you are already mapping out new projects. With the rapid pace of technology, you will soon be able to explore and answer questions you never thought possible until recently. What do you say?

Ambition is indeed growing. If one wasn’t present yesterday, one can’t catch up with today, and the future doesn’t belong to us, but I would like to see research on the past serve people living in the present. For example, Swedish geneticist Svante Pääbo and his team reconstructed the Neanderthal genome. Fragments of that genome have been identified in our DNA, functional studies have been carried out, and very specific results have been obtained: The discovery of a variant of the progesterone receptor that has a functional impact on the timing of birth. On this basis, scientists can now develop a treatment strategy that is so necessary for women today and which improves the chances of carrying a foetus to term. So, based on ancient DNA analysis, we hope to personalise future research and discover treatments for a modern individual. Perhaps they will not include drugs but rather prevention programmes. It would also make sense to develop diagnostic or prognostic tools for people who spend years searching for a diagnosis or do not know what to expect if they develop a particular disease. There is still a lot of undiscovered stuff on Earth in general, and I do not doubt that archaeology and other disciplines will provide us with interesting samples and topics for research.

We look forward to welcoming you and your team to the annual Medical Genetics Awareness Week. Could you tell us a little bit about the background? How did the idea of organising such events come about? Please share what is planned for this year’s programme.

We came up with this event five years ago. This is an educational mission and celebration of our occupation. After all, people are primarily in contact with doctors and nurses, but behind them are other professionals, researchers, and laboratory scientists who work for the same patient. We want to show them how complex this work is and tell them what geneticists do. And I am happy to say that the day has already come: When we visit primary schools, pupils have no problem remembering and pronouncing the word “deoxyribonucleic acid”! This year, during Medical Genetics Awareness Week, we invite everyone to learn what medical genetics professionals are doing, visit the Medical Genetics Centre of Vilnius University, and participate in a brainstorming session on medical genetics. The questions will be fun and easy, so don’t be afraid to participate – the whole community is welcome. There will also be real-life images from the lab showing how geneticists see themselves today and what science might look like in the future. We will also have a Medical Genetics Forum, a significant event dedicated to professionals. It aims to bring together medical geneticists to share our experiences and to communicate and help each other. However, I encourage you to follow us after Medical Genetics Awareness Week as well – we try to publicise our discoveries and news through various channels of the Faculty of Medicine.