What can your ancestry tell you about neurological diseases?

17 Jan 2018

Gianpiero Cavalleri, associate professor of human genetics at RCSI. Still from ‘Gianpiero Cavalleri’. Image: RCSI/YouTube

Gianpiero Cavalleri of RCSI outlines his work in trying to unlock medical secrets based on our ancestry.

As companies such as 23andMe have shown, many of us are fascinated about our ancestry, and the rapid advancement of cheap, accurate genetic testing has helped to find some truly surprising results.

But, aside from just learning about our family tree, researchers are now tracing our genetic history in an effort to help identify and track new diseases.

One such researcher is Gianpiero Cavalleri, associate professor of human genetics at the Royal College of Surgeons in Ireland (RCSI) and deputy director of the Science Foundation Ireland-funded FutureNeuro research centre.

After completing his bachelor’s degree in genetics at Trinity College Dublin in 2000, Cavalleri travelled to California to work as a research scientist at Stanford University for two years.

After returning to Europe to undertake a PhD at University College London, he found his way back to Ireland and RCSI, where he is also the lead of the college’s human genetic variation research group.

As part of the FutureNeuro SFI research centre team, Cavalleri helped to create the first fine-scale genetic map of Ireland, revealing the first evidence of 10 distinct genetic clusters on the island.

What inspired you to become a researcher?

I really love genetics; I find it incredibly interesting. I heard some lectures on the potential of genetics and I felt this was an area that could have a real impact on society.

You can really see this becoming reality today, with genetics informing on ancestry, being integrated into the clinic as a routine test and generally becoming a topic of conversation.

Can you tell us about the research you’re currently working on?

We are studying genetic variability in the Irish population, and this involves looking at those points in our DNA where we differ.

We use these large datasets to resolve structure in the Irish population, and it’s remarkable (but of course expected) how much that structure correlates with historical political power bases in Ireland.

We can also leverage that knowledge of population structure to help identify new disease genes and genetic changes that might be causing disease from those that are neutral. We then translate that knowledge to the clinic, and we work closely with epileptologists to help them improve how they diagnose epilepsy.

With a very accurate diagnosis – informed by DNA sequencing, for example – you have a much better idea of the underlying problem, and can then develop and select safer and more effective treatments.

So, using genetics, knowledge of our ancestors can inform us on how we are treated individually for medical conditions we experience.

Through the FutureNeuro SFI research centre, we hope to inform on more personalised treatments for neurological diseases in Ireland and further afield.

In your opinion, why is your research important?

Knowledge of genetics unlocks power for society. How it is interpreted and applied is fundamental to ensuring we reap benefit from it.

I hope our work, and the work of scientists generally, can help shape a world for our children to inherit that is safer and better.

What commercial applications do you foresee for your research?

In a commercial sense, genetics has exploded over the last three years. When I graduated with a PhD in 2006, your obvious opportunities were in academia. Now it’s very much in industry, whether it’s ancestry companies (see Ancestry.com for example), in diagnostics or with pharma. There is a lot happening.

Are there any common misconceptions about this area of research?

Historically, genetic concepts have been used to promote racism. The reality is that genetics has shown we are one big family, and the differences between us are tiny.

What are some of the areas of research you’d like to see tackled in the years ahead?

Genomics in cancer. There is incredible potential for genome sequencing to guide cancer therapy, where an oncologist can observe how a cancer is evolving and/or responding to treatment.

Genomic sequencing allows us to visualise cancer in a way that just wasn’t possible in the past.

Who is your unsung hero of science and why?

The people who contribute their data to research studies, such as those with epilepsy who participate in our studies. Without them, the work cannot happen.