Could Ireland hold the genetic codes to crack serious diseases?

The people of Ireland have made many contributions to science and technology over the centuries, from discovering why the sky is blue to developing the first steerable torpedo, among many others.

Researchers are hoping that the next contribution unlocks the genetic key to solving some of the world’s most complex diseases.

Completing the mapping of the human genome in 2003 took more than a decade and $2.7 billion (U.S.) – to map just one. Today, a complete human genome map can be developed in a couple of days for a mere fraction of the cost.

Scientists at Genomics Medicine Ireland (GMI) are leveraging these advances in technology. In partnership with AbbVie, GMI will map the genomes of 45,000 people across Ireland.

By building a library of genetic information, scientists will look for genes that might play a role in disease origins and progression. The hope is to make discoveries that will lead to new medicines for people battling serious diseases.

To understand what makes Ireland a good place to begin this journey, we spoke with Sean Ennis, Ph.D., co-founder of GMI, who has spent his entire career researching medical genetics.

Q: Why Ireland? What features make this a good population from which to gather genomic data?

Dr. Ennis: Although the population of the island of Ireland is only about 6.6 million, there are said to be more than 80 million of us Irish across the globe who make up the Irish diaspora. Apart from a very short period recently, there has largely been net migration out of Ireland for many centuries, so in that sense we are representative of global populations.

We think that Ireland is a rich resource for genomic research for a number of reasons. First, Irish people are more alike than other Western populations, so in genetics terms, this increases the likelihood of making discoveries, particularly in complex diseases.

Second, Ireland is a small island, but not too small. We have significant numbers of patients for many medical conditions to conduct studies.

And third, we have a concentrated clinical infrastructure and close collaborations between universities and hospitals, all of which simplify participation in these studies.

Q: What might the findings tell us about disease?

Dr. Ennis: These findings might identify new as yet unknown causes for some common diseases or cancers. They may also tell us more about why some people’s disease progresses much faster or more severely than others. This could then open up the possibility of modifying disease progression.

Q: What are the benefits of looking at a whole population? What do we hope to find? Are there any limitations?

Dr. Ennis: The reason we are taking a population genomics approach is that we believe Ireland is in a unique position to build a world-class genomic database of a disease-specific population. The idea is that we could make a significant contribution to powering precision medicine research, and further down the line contribute to preventative medicine and care.

The limitations could at some point be some of those factors that make us unique and worth studying, such as the size or the global relevance of the population.

Q: How will the findings in Ireland apply more broadly across the world?

Dr. Ennis: Because of the influence of the Irish population, these findings will be relevant particularly to Western world. There will also be many findings which can be used in a molecular diagnostics context, where we would look for certain biological markers of disease in a person’s genome. Ultimately the aim is to make findings which will lead to preventative medicines.

Q: What’s the timeline for this research and how will the process work? When could we start to see new insights come from these efforts?

Dr. Ennis: The research collaboration with AbbVie has a 15-year timeframe. We hope to sequence participant data within the next 3-4 years. Translation of that research into clinical care, however, is a longer-term endeavor. Eligible participants will be referred to the study via their clinician at which point they will be fully informed about the study parameters and they can elect whether or not to volunteer. If they decide to volunteer for the study, it’s as simple as attending an appointment where the research team member will take a sample of their blood and they will also be asked to answer a short lifestyle questionnaire.

We are aiming to publish early insights in a one-to-two year timeframe.