Top level navigation

Breadcrumb to current page

Main content

Rapporteur report

Professor Orla Hardiman

30 January 2017

HRB Clinician-scientist discovers new insights into Motor Neuron Disease

Watch Professor Hardiman's presentation on You Tube at the link below

Quick summary:

  • HRB Clinician-scientist Professor Orla Hardiman and her team have discovered new genes involved in Motor Neuron Disease and clusters of occurrence in Ireland 
  • Their work brings Ireland into large international collaborations looking at the genetics of MND 
  • They have discovered links between MND and other diseases, which will inform future clinical trials 
  • They have shown that patients receiving multi-disciplinary care do better. 

As an island, we have plenty of advantages to study disease in populations – and that is just what Professor Orla Hardiman has been doing for the neurodegenerative condition Motor Neuron Disease (also known as ALS). Her team has been discovering clusters of MND prevalence in Ireland, links with other diseases and that patients who receive multi-disciplinary care do better. 

‘My entire career is a function of the support that I got from the HRB’, said the Consultant Neurologist and Trinity College Dublin Professor of Neurology, who has focused much of her research on MND. 

Being an island, Ireland has the ‘very distinct natural resources’ of a stable population structure and good connectivity, explained Professor Hardiman at the HRB 30 Conference in Dublin Castle, and this is beneficial for studying disease..

By gathering data from patients and families, Professor Hardiman and colleagues have discovered important genes in the disease and a higher rate than previously assumed of familial MND and they have mapped clusters of MND prevalence in Ireland – including a ‘cold spot’ in Kilkenny. 

They also bring their data and expertise to European and Central and South American collaborative networks to unpick genetic and environmental factors that relate to MND, and they are involved in Project MinE, a massive, international crowd-funded project to sequence and analyse genomes from at least 15,000 patients with MND and several more thousand ‘controls’.  

The Irish group has also become a leader in the field of non-motor changes in MND, including behavioural changes. They have made ground-breaking clinical observations that other diseases, such as schizophrenia, may be more common in families with MND, and backed up those observations with genetic analysis. The findings, which were initially considered ‘heretical’, have opened up new discussions on what happens in the brain in MND. 

Professor Hardiman, who is a clinician at Beaumont Hospital, noted the ‘horribly inefficient’ route for MND patients in Ireland who on average see four healthcare professionals and wait 19 months for a diagnosis. She also showed evidence that attending a multi-disciplinary clinic results in better outcomes. 

‘This is all allowing us to engage in conceptual thinking around what … is the nature of the disease and how do we look at ways of finding new treatments’, said Professor Hardiman. ‘And the ultimate aim is to develop new cohorts that we can then integrate into clinical trials’.

Search the HRB website

Other information and links