Scientists are hoping that the Irish may hold the genetic secrets that could unlock the puzzles of some of the world’s most complex diseases.
They hope that their work will help to discover some unknown causes for huge killers such as cancer – which could then lead to new treatments.
Scientists at Genomics Medicine Ireland (GMI) are set to map the genomes of 45,000 people across Ireland.
Because of the huge swathes of emigration from Ireland to countries in all corners of the world over hundreds of years, it is thought that Irish genomes could be very similar to millions of people born in other countries.
The GMI will build a huge library of genetic information which will help them to look for genes that might play a role in disease origins and progression.
Their work – in partnership with biopharmaceutical company AbbVie – will benefit from huge advances in technology that have taken place over the last decade and a half.
In 2003, it would take ten years to complete the mapping of a single human genome – at a staggering cost of $2.7 billion (US).
Today, it would take just a couple of days to develop a complete human genome map – at a fraction of the cost.
Scientists at GMI hope that their work will lead to discoveries that could bring about the development of new medicines for serious diseases.
Sean Ennis, Ph.D is the co-founder of GMI, and has spent his entire career researching medical genetics.
Dr Ennis spoke with AbbVie to tell them why Ireland was in such a good position to begin the hugely important project.
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.
What is Genomics?
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Written by Michael Kehoe @michaelcalling