Non Member, Ireland
South of Ireland
Date founded: 27 November 2007
- Catherine Lynch
Clinical Research and Educational Centre
Phone:+353 1809 3874
Fax:+353 1809 3809
Research Motor Neurone Activities
- The Irish MND Research Group provides multidisciplinary service to the population of patients with ALS (circa 4 million). Approximately 80% of all ALS patients in Ireland are in contact with the service, which is the only dedicated ALS facility in the country.
- The services has an immediate access policy to our weekly ALS clinic – thus providing services to new patients within 2-4 weeks of initial referral (compared to 12 months for an average patient requiring neurological assessment in Ireland). Return patients are seen at regular intervals of between 6 weeks and 3 months. The multidisciplinary support includes same day review by specialist physiotherapy, occupational therapy, speech & language therapy, dietetics and specialist nursing.
- The clinic has access to a wide range of in-patient and out-patient facilities for diagnostic and management purposes.
- In-patient facilities are provided in a dedicated neuroscience unit with specialist nurses with on -site access to a full range of palliative care services, specialist interventional radiology (for radiologic inserted gastrostomy) access to a specialist respirator y physician with a specific interest in ventilatory failure). A full service in neuropsychology and neuropsychiatry is also available.
- Home visits are provided by specialist nurses and clinical Fellows, and the services works closely with outreach teams provided by Palliative care.
- 24-hour advice is available by phone through a mobile phone helpline (provided during working hours by specialist nurses) and an out-of-hours service provided the neurology service within the Hospital.
- The service also provides online support and advice through its website (www.mnd.ie) and works closely with the voluntary organization, the Irish Motor Neurone Disease Association.
The Irish Motor Neurone Disease Research Group has a strong track record in research.
- The Irish MND Research Group has set up and maintained for 15 years the longest running population-based Register of ALS in the world.
- The Register is now part of the European ALS (EURALS) group, of which we are a founder member.
- Our group undertook the first analysis of the El Escorial criteria, demonstrating that the criteria are not predictive of survival, and that up to 25% of patients with ALS remain ineligible for inclusion in clinical trials at time of death.
- We were the first to demonstrate that attendance at a multidisciplinary clinic is an independent determinant of outcome, and we later demonstrated a significant difference in outcome between incident and prevalent populations. We have demonstrated superiority of RIG over PEG, the benefits of individualised quality of life measures, and the superiority of SNIP over Vital Capacity as a predictor of survival.
- Significance: Our clinical research has changed practice.
- We have capitalized on the relative homogeneity of the Irish population. We identified a series of novel mutations in ANG. Replication has been achieved in at least 4 other populations, where ANG mutations account for approximately 1% of all sporadic ALS. Subsequent work has shown that angiogenin promotes neurite outgrowth and has neuroprotective properties that can be exploited to therapeutic effect.
- We have identified and tested for replication a number of susceptibility genes in sporadic ALS in Irish, English, Scottish, US and Polish patients, including APEX, angiogenin, HFE, PON, DPP6, and a variety of hypoxia responsive genes.
- Significance: Our work has demonstrated that small well-characterized homogeneous populations can successfully identify important new loci. We have demonstrated that population differences may confound successful replication of novel candidate genes that alter disease susceptibility in individual ancestral populations
ALS and Cognitive Impairment
- We have undertaken the first detailed population-based longitudinal survey of cognition in ALS. Our preliminary data suggest that cognitive impairment in ALS occurs in approximately 40% of those with ALS, and that it occurs early in the illness.
- We have demonstrated that those with normal cognition at diagnosis are unlikely to progress to develop cognitive impairment.
- Significance: Our evidence suggests that ALS and ALS/FTD do not form a continuum, and may have different genetic substrates.
- Our work has generated an important resource of DNA from patients followed longitudinally with detailed neuropsychological profiling.
- We were the first group to undertake a systematic review of the impact of ethnicity on ALS epidemiology.
- We are working closely with collaborators in “New Europe” and developing countries to to develop help advance research in clinical management, epidemiology and genetics.
- With collaborators in Cuba, we have shown that corrected mortality rates for ALS in admixed populations are approximately 3 times lower than in ancestral Europeans, and lowest in the “mixed” population.
- This is the first robust evidence that the incidence of ALS differs among ancestral populations.
- Our group has also helped to design and fund a prospective population-based incidence study of ALS in Cuba, including DNA collection. The aim is twofold:
- 1. To develop services for ALS and other neurodegenerative diseases in Cuba
- 2. To determine the incidence, prevalence, clinical features and outcome of this admixed population.
- Significance: Our objective is to establish a multi-national clinical and genetic dataset that will determine the effects of ancestral origin on clinical phenotype and genetic susceptibility, and that will allow identification of possible novel susceptibility and protective genes.