Professor Gianpiero Cavalleri, Deputy Director of FutureNeuro has received the Science Foundation Ireland ‘Best Reported Impact’ award for his work on genetic biomarkers for epilepsy predisposition and treatment at the annual SFI Science Summit today.
This award recognises an SFI researcher’s commitment to maximising the impact of their research. Professor Jane Farrer, Trinity College Dublin was a co-recipient of the award for her work on genetic eye disorders.
Our ability to reveal underlying genetic causes for epilepsy (and other disease types) has been limited by our relatively poor understanding of the patterns of genetic variation that exist naturally in the Irish population, as a product of our demographic history. By depicting this structure, we can better decipher disease-causing genetic variation from that which fluctuates naturally in the Irish population, but has little or no impact on disease risk.
In this context, SFI funding allowed Professor Cavalleri and his team to build the ‘Irish DNA Atlas’, a cohort of DNA samples from people with ancestry linked to specific parts of the country. Having assembled this DNA resource (which now totals over 400 individuals), they determined the nature and patterns of genetic variation that exits in the Irish population, using the latest genotyping technology and analytical approaches.
Key outcomes of this work for 2017 included peer reviewed publications on the structure and history of the Irish Travellers and of the population of the island of Ireland. These publications carried significant impact. The Minister of State for Equality, Immigration and Integration, David Stanton TD, shared this research on the Irish Travellers with members of the Oireachtas Committee on Justice and Equality. The Minister also discussed the work at a meeting of the Government Cabinet, and indicated SFI-funded research played a part in the government’s decision to recognise ethnic status of the Travellers in Ireland, which was formally announced in Dail Eireann by Taoiseach Enda Kenny on 1st March 2017, a policy change that received cross-party support.
Professor Cavalleri’s paper that presented the first genetic map of the people of Ireland received global media coverage and was in the 99% percentile for online discussion (altmetric) of over 300,000 research articles of a similar age, and ranked 3rd for the most read of the more than 24,000 papers published in the journal Scientific Reports.
Commenting on the award, Professor Cavalleri said:
“I would like to thank SFI for the opportunity they provide, and my research team for their hard work. I am honoured to receive this award. The learnings from this project can help guide the effective integration of genomics in to the Irish healthcare system and can also provide the basis for a public genome project in Ireland, to help us better understand the genetic component of disease in Ireland and regions of the globe with strong Irish ancestry, in particular the UK, North America and Australia”
Acknowledging the award winners, Minister for Business, Enterprise and Innovation, Ms Heather Humphreys TD, said:
“I am pleased to see the outstanding work of the Irish research community acknowledged through these SFI Science Awards. The recipients are among Ireland’s top researchers and the awards recognise the contribution they are making in a number of areas including industry collaborations, entrepreneurship, communication and public engagement. I would like to congratulate each awardee on their tremendous achievements, their discoveries will bring economic growth and societal development in Ireland.”
Director General of Science Foundation Ireland and Chief Scientific Adviser to the Government of Ireland, Professor Mark Ferguson, also congratulated the award winners, saying:
“Every year the Science Foundation Ireland Awards provide an opportunity to highlight some of the excellent impacts and achievements of our research community. I want to congratulate the winners on their dedication and the contribution they are making to Ireland’s economy and society. I am confident that their success will be a source of inspiration to their peers and, more importantly, to the next generation of researchers in Ireland. At Science Foundation Ireland we very pleased to see the superb quality of research that our funding enables, and are proud that Irish research continues to be impactful and world-leading.”
Professor Gianpiero Cavalleri, SFI Research Centre FutureNeuro & RCSI
Gianpiero Cavalleri is Associate Professor of Human Genetics, Deputy Director of the FutureNeuro SFI Research Centre and Director of the Human Genetic Variation Research Group at the Department of Molecular and Cellular Therapeutics, RCSI. His research team is working on a diverse set of projects spanning population genetics, disease genetics and natural selection.
Professor Jane Farrar, Trinity College Dublin
Jane is a Professor in the School of Genetics and Microbiology, Trinity College Dublin and has three decades of experience in the field of inherited ocular disorders. Jane and the team’s research interests have been focused on how genetic information is driving the individualisation of medicine and enabling the emergence of innovative potent therapeutic solutions for unmet clinical needs.
