Imagine a map of everyone’s genetic sequences, laid out for scientists to look at to try to figure out why we are the way we are. Why some of us get sick, why some of us have dark hair, why some of us live to be 100.
Various incarnations of the Human Genome Project set out to make this map and have run in countries like Denmark, Estonia and Finland. Two scientists who believe an Irish version of the project could help scientists shed some light on genetic conditions, Dr John Greally from the Albert Einstein College of Medicine in New York and Dr Gianpiero Cavalleri from Dublin’s Royal College of Surgeons came on Today with Sean O’Rourke to give listeners an insight into their work.
John explained that the Irish Genome Project is just an idea at present. But he believes it could be hugely beneficial.
"The idea behind it is that it would allow you to understand what sort of disease risks the country is susceptible to. It would allow you to understand the ancestry of the country… and what they’re all betting on is that it’s going to save the country a huge amount of money in terms of healthcare costs over years to come."
Gianpero described some of the genetic conditions that are more prevalent in Ireland than in other countries.
"There are certain conditions, genetic conditions in particular, that are well associated with Ireland. So, Cystic Fibrosis, Haemochromatosis, Alpha-1 antitrypsin deficiency. So, these are what we call Mendelian genetic diseases. Their incidence is maybe 2 or 3 times higher than in other European regions."
It’s not all "big picture", though. John and Gianpero are also interested in addressing specific areas of Ireland where certain genetic conditions seem to be prevalent. Gianpero gave the example of Sensorineural Amyloidosis, the condition which affected the late Martin McGuinness. Gianpero explained that in the North-west of Ireland, specifically the Gweedore area, about 1.1% of people have the mutated gene which may result in Sensorineural Amyloidosis.
Having this gene does not mean that you will get this illness. But Gianpero thinks that a study like an Irish Genome Project could mean better rates of prediction and more efficient treatment for those affected.
"Some people will get sick and some people will not. But by finding these little pockets of disease susceptibility in places like Donegal, we can understand local risks as well as national risks."
Listen to the whole discussion on the Human Genome Project on Today with Sean O’Rourke here.
