Searching for answers in our genes

Research Lives: Prof Gianpiero Cavalleri, associate professor of human genetics and deputy director of the SFI FutureNeuro Research Centre of Excellence at RCSI

Prof Gianpiero Cavalleri: “We also used DNA to inform on the population structure and history of the Traveller community, and we were able to contribute in some small way to the debate around the recognition of Travellers as an ethnic minority.”

Prof Gianpiero Cavalleri: “We also used DNA to inform on the population structure and history of the Traveller community, and we were able to contribute in some small way to the debate around the recognition of Travellers as an ethnic minority.”

 

What areas do you research?

“I’m interested in how we all differ at the level of our DNA, the set of genes we inherit. Understanding and studying these differences can shed light on population history and on evolutionary history, and can point us to the genetic causes of disease.

You recently won an award from Science Foundation Ireland for ‘best reported impact’, what was that about?

When you are looking for changes in genes that are contributing to disease, it helps to know what the ‘typical’ genes look like in a population. So, with SFI support we have been recruiting people into the Irish DNA Atlas, and in December 2017 we published the first fine-scale genetic map for the island of Ireland. We showed how distinct clusters of people who shared genetic identity mapped to specific regions across Ireland.

This information can help researchers distinguish genetic changes that are contributing to disease from the genetic changes that fluctuate naturally in the Irish population but have little or no impact on disease risk. Through FutureNeuro, we are using this and other work to inform on the integration of genetic diagnostics to the epilepsy clinic in Ireland.

We also used DNA to inform on the population structure and history of the Traveller community, and we were able to contribute in some small way to the debate around the recognition of Travellers as an ethnic minority.

What keeps you going in research?

I think it’s seeing how understanding genetic variation can make a positive impact in people’s lives. For the epilepsy work, Irish researchers are coordinating with the global scientific community to figure out genetic changes that cause specific forms of this condition.

Today, when a child comes into a clinic with a severe early-onset form of epilepsy, in an increasing proportion of cases they can get a specific diagnosis that is informed by genetics. This is important for parents and loved ones, and can sometimes make a big difference to their treatment. Hopefully through research, we can continue to increase the percentages of cases that can be diagnosed and, critically, help inform the design of new and better treatments.

What’s the biggest threat to your work?

At the moment, a lot of our time and energy is going into GDPR and the new Health Research Regulations. GDPR has made everyone rightly aware of the importance of data privacy, and Ireland has drawn up a set of regulations for health research specifically.

In practice, these are very challenging to implement. Health research is increasingly carried out with the strong involvement of patients and representative groups. Researchers and patients are motivated to create good research infrastructures and translate research findings to improve the health of the population. This means we have a debt to people who have taken part in research in the past, and we need to honour their desire to improve outcomes.

What can be done about it?

I think everyone wants the same thing – for effective research to be carried out in a way that balances the health of the population with individual privacy rights. I hope that collectively and quickly we evolve a system in Ireland that works for everyone.

It sounds stressful, how do you take a break?

I like the sea and the mountains, sailing and cycling, they help to clear my head. My mother comes from a tiny village in the Dolomite Mountains in Italy. I really enjoy visiting there with my family when I can.”

If you have all eight great-grandparents born within 50km of each other and you are interested in participating in the Irish DNA Atlas, please contact irish.dna@familyhistory.ie