A PROJECT building a disease-specific database of population genomics in Ireland may extend to Scotland to explore connections between the two countries.

Dr Sean Ennis, co-founder and chief scientific officer of Genomics Medicine Ireland (GMI), yesterday outlined progress on a project he is involved with in Ireland, examining the relationship between genetics, health and disease, at the Biotexcel Genomic Medicine conference in Edinburgh.

A genome is the complete set of DNA in an organism, including its genes. Genomics examines these to determine the entire sequence of DNA or the composition of the atoms that make it up and the chemical bonds between them.

Knowledge of the DNA sequence is an important part of biological research and GMI, working with doctors and patients, researchers and global biotech and pharmaceutical sectors, researches new treatments and diagnostics for people around the world. In collaboration with several Irish hospitals, the company is involved in genomic research into a range of diseases such as brain tumours and inflammatory bowel disease, as well as a study examining the role of genetics, lifestyle factors and fitness in health, and its population genomics database.

Ennis’s work on the Irish Genome Initiative shows some of the potential for genomics in general.

It examines characteristics of the Irish population, its history, shared culture and infrastructure, all of which create a unique environment for genomic research.

Ennis told The National collaboration with Scotland was on the cards, although it was not without its difficulties.

“That’s the next move,” he said. “If you think about it logically there will be only a certain amount you can discover within a population and these types of projects will have to go beyond that. It may be years down the road, but we can do it in a compatible way, we can cross-reference each other’s studies from an Irish or Celtic point of view. I know from my own family about who’s come and gone between Donegal and Scotland and that all has to be factored in.

“The set-ups [between Ireland and Scotland] are somewhat different. If you’re doing ethics in the UK you can just do one ethics application to cover the whole of Scotland, whereas in Ireland each individual institution has to make an ethics application.

“Then if you’re doing a broad study you’ve got to try and co-relate these applications so they’re pretty much standardised and you don’t lose certain key hospitals because of changes in individual institutions.”

Ennis said the parallels between Ireland and Scotland were scale and ambitions, but the work had big implications for diseases such as multiple sclerosis, cancer, or Alzheimer’s.

“There are huge implications for pretty much any common disease,” he says. “It’s hard to judge exactly how they can help but the potential but it can have a major impact on most of these.

“Solving genetic diseases is a major step. We’re going from a base line in Ireland towards this which sometimes makes it easier because you have clean canvas and you’ve got to navigate the system and find your way through that to make it work.”

GMI played a vital role in the case last month of Mary-Ann Cleary, a young Irish girl suffering from progressive Dystonia, a rare degenerative illness that causes a painful seizing of the muscles.

She had been admitted to hospital in Dublin mute and struggling to breathe.

Analysis of the eight-year-old’s condition by Temple Street Children’s University Hospital and GMI revealed a mutation in one of her genes which responded to treatment.

Within weeks the girl was off life support and able to speak for the first time in four years.

Ennis said: “Genomic research studies usually take many years to yield significant actionable results, so to achieve such an important, tangible outcome so quickly is amazing.”