'This would not have been possible without the ice bucket challenge' - Irish family behind disease breakthrough
Published 30/07/2016 | 20:22
This is the Irish family team behind the ice-bucket funded breakthrough discovery in treatment for the disease ALS.
Earlier this week the global media was filled with stories of how scientists had identified a new gene, NEK1, that contributes to ALS, also known as motor neurone disease (MND), and can now attempt to develop therapies to treat it.
The research was funded by the ice-bucket phenomenon which exploded on social media in 2014.
Independent.ie can now reveal that the lead scientist behind this week's breakthrough is Irishman Kevin Kenna (29) from Rathfarnham/Ballinteer in South Dublin.
And, what's more, Kevin is joined in the team by his brother Brendan (23) and his wife Aoife (31).
The team have been working out of a collaborator's laboratory in the University of Massachusetts (UMass).
Speaking to Independent.ie Dr Kenna explained that the research would not have been possible if it hadn't been for all the viral ice-bucket challenge videos that dominated Facebook and other social media forums for several weeks.
The ice bucket challenge was designed to promote awareness of ALS, a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord.
The social media campaign, became a viral phenomenon and raised €104m from over 17m people, including celebrities like Oprah, Bill Gates, Taylor Swift, Justin Bieber and Amy Huberman, who filmed themselves pouring freezing cold water over their heads and shared the videos online.
Describing the breakthrough Dr Kenna explained: “This study represents a major step forward in ALS research. The gene we identified, NEK1, appears to contribute to approximately 3% of ALS cases and provides new clues about what exactly is going wrong when the disease occurs and how it might be treated.”
Although Dr Kenna is the lead author on the study he explained that it was a very large international project involving the active collaboration of over 90 researchers from 12 countries, including Ireland.
He added: “Unfortunately, genetic research is expensive and this work would certainly not have been possible without the funds raised by the ALS ice bucket challenge and organisations like project MinE.
“Specifically the ice bucket funds have allowed the research community to generate detailed gene profiles of DNA samples donated by large numbers of ALS patients. These profiles are generated using DNA sequencing technologies and this study is by far the largest of it's kind.
“Unfortunately the gene profiles these technologies reveal are very complex and the task of identifying new ALS genes is like searching for a very small number of needles in an enormous hay-stack.
“My contribution to this work was applying big data analytics to patient gene profiles and implementing new computational methods that learn to pick out the features of ALS causing genes. This allowed us to identify NEK1 as a new ALS gene.”
Dr Kenna did his undergraduate study in UCD and later his PhD in Trinity College where he studied ALS.
While most of his PhD was spent in a research lab he also attended patient clinics run by Dr Orla Hardiman in Beaumont Hospital.
As he was nearing the end of his studies he was giving a talk about his research at an international ALS meeting and from this he got the opportunity to move to the collaborator's lab in UMass – established by Dr John Landers.
Despite not yet turning 30 Dr Kenna has already authored or co-authored 18 scientific publications on ALS but the NEK1 discovery would be the highest impact to date.
Dr Kenna is joined in Boston by his brother Brendan, who has a BSc in biosciences at DIT. Brendan's main contribution was in the initial downloading and processing of the raw DNA sequencing data, making it ready for our analyses.
Dr Kenna's wife Aoife, from Churchtown, Co Dublin, makes up the third part of this family team. She's an electronic engineer and has previously worked in the big data industry.
Dr Kenna explained: “She became involved because we needed to find an affordable way to physically store all the data for the project. At the moment we have >500 terabytes of data and this is growing quite rapidly.
“Unfortunately most of the commercial solutions out there were just too expensive to be realistic for us. Aoife came up with and helped us implement a system that could both handle all of the data and allow us to move it around quickly.
“Being able to move data quickly might sound like a trivial point but when it gets to the size of what we're working with it can make the difference in whether our work takes a few months or a few years.”
The research has required thousands of hours of work and while its results are highly complex the ones who will ultimately see the benefits are patients.
Dr Kenna said: “As anyone who has seen the disease will know, ALS is truly horrific for patients and their families. My long term goal is to stay in ALS research and to hopefully help make a meaningful difference.”