Background
Neurons
In a ground breaking paper just published in the international journal Neuron, an international consortium involving scientists and clinicians from Trinity College Dublin, led by their long term collaborator Dr John Landers of the University of Massachusetts has reported a new Motor Neuron Disease -associated gene (TUBA4A). The team have shown that they can identify new and important causes of Motor Neuron Disease (MND) through the detailed analysis of rare coding variations in DNA from people with MND.

Genes are a code within DNA used to make all the proteins in a human’s body. Some diseases are caused by faulty coding within our genes, leading to the manufacture of defective proteins. Finding these coding faults can help scientists to understand diseases like MND. The disease, which causes a gradual degradation and death of motor neurons, affects about 300 people in Ireland, with some 110 new cases reported each year.

Dr Landers’ group examined the DNA from 363 people with MND, each of whom also had another family member with the condition. They performed an analysis of every gene in the genome of these patients which generated trillions of individual DNA base cells. Piecing these together, they searched for patterns of rare damaging mutations that appeared more frequently in patients with MND than in people without the disease.

They found that more people than expected with MND had an unusual change in the code for a protein in nerve cells that transport vital building blocks from one part of the nerve cell to another. Damage to this transport system leads to dysfunction of the nerve, and understanding this may help scientists to find new treatments for MND.

This important discovery from Dr Lander’s laboratory, which required advanced DNA analysis by Irish scientist Dr Kevin Kenna, and used samples from the MND Research Group in Trinity College and other centres, has added another piece to the jigsaw of the understanding of the causes of MND.

Speaking about this discovery, Orla Hardiman, Professor of Neurology in Trinity College Dublin, Consultant Neurologist at Beaumont Hospital and one of the paper’s authors said: “We are very excited by Dr Landers’ finding for mutations in the gene TUBA4A in some forms of MND. We are particularly proud of the contribution of Dr Kenna, a young post-doctoral scientist who has recently completed his PhD in MND Genetics with our group in Trinity College Dublin.  This form of international collaboration across leading centres will help us to bring new treatments closer to the clinic.”

“We will continue to collect and analyse DNA from Irish patients with Motor Neuron Disease in collaboration with our colleagues in genetics, Dr Russell McLaughlin and Professor Dan Bradley at Trinity, as there are many discoveries still to be made in collaboration with our international colleagues,” she added.

A video describing this discovery and featuring Dr Kevin Kenna is available here: http://youtu.be/d1rCjNSNiI0

The paper is available from Neuron: http://www.cell.com/neuron/home

Media Contact

Yolanda Kennedy, Press Officer for the Faculty of Health Sciences |yokenned@tcd.ie | 01 896 3551

web-connect-science
  • €155m in funding from the Department of Jobs through SFI will be provided for five World-Class SFI Research Centres
  • €90m co-investment by industry partners, bringing the total investment to €245m
  • Directly supporting 700 researcher positions
  • Addresses research in critical and emerging areas of the economy including applied geosciences, software and medical devices
  • Potential to receive further competitive research funding from industry and EU Horizon 2020

Minister for Jobs, Enterprise and Innovation, Richard Bruton TD, and Minister for Skills, Research and Innovation Damien English TD has announced Government and industry funding of €245 million for the establishment of five new world-class SFI Research Centres in Ireland.

The funding of €155 million from the Department of Jobs will be delivered through Science Foundation Ireland’s (SFI) Research Centres Programme, coupled with €90 million in cash and in-kind contributions from industry partners. The funding will support cutting-edge research in critical and emerging sectors of the economy which are key for job creation in Ireland. The funding will be provided over the next six years, 2014-2020.

Speaking at the announcement, Minister for Jobs, Enterprise and Innovation, Richard Bruton TD, said: “A key part of the Government’s Action Plan for Jobs is to build on the major achievements in scientific research we have built up over the past decade and turn more good ideas into good jobs. Today’s announcement will lead to the establishment in Ireland of world-class centres of research excellence and scale which will be game-changers for Irish scientific research.”

“The €245 million investment announced today, and the five new, large-scale, world-class research centres it will support, are aimed at achieving a step-change in the reputation and performance of Ireland’s research system. This builds on the announcement of seven similar centres last year. With twelve world-class SFI Research Centres, Ireland is now well placed to take the lead developing cutting-edge research and new technologies, ultimately delivering more commercial ideas and jobs.”

Minister for Skills, Research and Innovation, Damien English TD, added, “This investment delivers another milestone for this Government’s Research Prioritisation objectives. These SFI Research Centres are ideally positioned to nurture real collaboration across industry and academia in Ireland which supports increased commercialisation of research and will ultimately grow jobs in the STEM sector. Importantly, these centres will also strongly position Irish based scientists to win funding through the EU Horizon 2020 funding programme, and will enable us to attract further investment from international companies in the future.“

The five SFI Research Centres will be involved in over 165 industry collaborations with partners ranging from multinationals to SMEs and including Intel, Google, Microsoft, Medtronic Vascular Galway Ltd, Xilinx, Huawei and many more.

The new funding has been competitively awarded in areas of national importance closely aligned to industry and enterprise needs, job opportunities and societal goals. The five new SFI Research Centres are as follows:

- ADAPT – Global digital connectivity enables enterprises, communities and individuals to share information and communicate globally at incredible speed, in enormous volumes, across the world’s languages and over an ever-increasing number of devices. Adapt’s research will fundamentally change the way in which enterprises, communities and individuals can engage globally in real time. Adapt will enhance efficiencies and global reach for industry partners in key priority sectors for Ireland, including ICT, localisation, financial services, eCommerce, media, entertainment and games, life sciences, eLearning, digital culture and humanities.

- CONNECT Centre for Future Networks & Communications – The key challenges that face society all drive the need for new and varied forms of networked services. These include mobile Internet, connected health, smart agriculture, smart grids and metering, and environmental monitoring services. The CONNECT Centre focuses on future broadband, cellular and Internet-of-Things networks on which all of these services will be enabled; thereby growing the economy and supporting society at large.

- CÚRAM Centre for Research in Medical Devices – As the global population ages, one in three people are expected to be over 65 by 2050, with the potential financial burden for healthcare expected to rise. CÚRAM is engaged in research to radically improve health outcomes for patients by developing innovative implantable ‘smart’ medical devices to treat major unmet medical needs. This research will position Ireland as the leader in developing medical device technologies which will provide affordable transformative solutions for chronic diseases.

- iCRAG Centre for Research in Applied Geosciences – Geoscience underpins the discovery of raw materials, water and energy resources that are critical to the world’s economy. With increasing demand and diminishing supply, focused innovations in geoscience are of paramount importance globally. Ireland is home to Europe’s largest zinc mine, untapped hydrocarbon resources in challenging North East Atlantic deep water environments, and a diverse geological framework with important untapped seabed and groundwater resources. The iCRAG centre will carry out research to find and harness these resources whilst protecting the environment.

- LERO The Irish Software Research Centre – Software is everywhere and key Irish industry sectors such as manufacturing, medical devices, financial services, cloud computing, analytics, and smart cities depend on it. LERO’s research mission is to replicate the success of traditional software engineering in the context of large-scale, pervasive, physically-integrated, highly interconnected, evolving, and continuously-available systems, in which the boundary between design-time and runtime is disappearing.

Professor Mark Ferguson, Director General of Science Foundation Ireland and Chief Scientific Adviser to the Government of Ireland, said, “These five new SFI Research Centres were selected following a highly competitive and rigorous international peer review process which screened for scientific excellence and assessed potential economic and societal impact. These five SFI Research Centres complement the seven we announced last year – which are already having a major positive impact: making important scientific advances, initiating and enhancing enterprise, training people with appropriate skills, winning EU projects and enhancing Ireland’s international reputation. These SFI Research Centres combine scientific research with deep and significant enterprise engagement, excellence and impact. We are confident that they will make a significant contribution to Ireland’s economy, employment and reputation.”

The five centres involve a collaborative partnership across Higher Education Institutions in Ireland with participation from Cork Institute of Technology; Dublin City University; Dublin Institute of Technology; Dublin Institute for Advanced Studies; Dundalk IT; NUI Galway; Maynooth University; Royal College of Surgeons Ireland; Trinity College Dublin; Tyndall National Institute; University College Cork; University College Dublin; University of Limerick and Waterford Institute of Technology.

As a result of today’s announcement there will be a total of twelve SFI Research Centres in Ireland. Today’s investment marks the second tranche of funding under the SFI Research Centres Programme; last year €300 million (€200 from SFI and €100 from industry) in funding was announced for seven research centres, the largest ever combined Government and Industry co-funding collaboration of its kind in the research field in Ireland.