Your research focuses on genetics, what sparked your interest in this area?
I’ve always loved learning. I think that’s from my Mum. In primary school in Co Waterford, she was my teacher for several years. Going to university, I wanted to study an area where there is a lot to discover, so I chose a degree in human genetics in Trinity College Dublin.
What came after that?
For my PhD I worked on a project called Target 5000, funded by the charity Fighting Blindness. We analysed genomes or DNA information from people with blindness. Many of these patients had already had some genetic testing but hadn’t received a diagnosis.
By going back to their full genomic data and doing a deeper dive into their DNA in a research environment where we have more room for discovery, we were sometimes able to find DNA changes or variants linked with their loss of sight.
In just one of my PhD projects, which I did with Prof Jane Farrar in Trinity, we were able to get a diagnosis for 24 patients that way. That made me really passionate about the power of genetics research to help people.
Ireland v Italy: Live updates as Jack Crowley named to start at outhalf
Taoiseach can’t disguise the fact that he’d say anything to keep shamrocks flying high in Trumpland
Micheál Martin sat smiling, struggling to interject, but there was no mistaking it: this was The Donald’s show
Fiona McHugh, former Sunday Times Ireland editor and Fallon & Byrne co-founder, dies aged 57
And what do you work on now?
I’m in FutureNeuro now, which is the Research Ireland Centre for Translational Brain Science. We have a big focus on epilepsy, and I’m exploring DNA data from patients, to see if we can uncover variants that could be linked with their epilepsy. But that’s only part of my work.
So, what else are you doing?
I manage Genomic Data Infrastructure Ireland and Genome of Ireland, which both link in with larger, European projects under the One Plus Million Genomes initiative.
Tell us about those
The One Plus Million Genomes initiative wants to collect genomes from people across Europe and make the data accessible in a responsible way for research.
In Ireland, through the Genomic Data Infrastructure project we are exploring ways to store DNA data from consenting people and make the data accessible to researchers in Ireland and across Europe who have legitimate projects.
Why is this important?
As an example, sharing information can help with research into rare diseases. In one country there may be only a handful of people with a particular rare disease, but if you were able to study the DNA of people across Europe with that disease, you would have a much larger group to study.
And what’s the Genome of Ireland project?
We want to collect the genomes of 1200 “healthy” people on the island of Ireland, who have not had a diagnosis with a genetic basis. That will give us insights into what DNA variations are common here.
At the Health Research Board’s grant holders conference in Athlone, you spoke about how future electronic health records in Ireland should link to DNA data stored in a way researchers can use. Why is that important?
In Ireland, we need electronic health records for patients, and we need to make sure their data, such as genomic data, are accessible in ways that offer the most benefit for those patients, so they can get the treatments they need now or in the future as they become available.
And if you have any spare time, what do you like to do?
I think if you ask anyone who knows me about what I love, it’s genetics and film. When I’m not in the lab I am in the cinema, and luckily my partner Joe loves the cinema too. So we go maybe three times a week.
