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Full NameProfessor Orla Hardiman
Medicine
Trinity College Dublin
Webpage:medicine.tcd.ie
Email Address:Email hidden; Javascript is required.
- genetics, genomics and molecular biology
- neuroscience and mental health
- bioengineering/medical devices
- epidemiology/population health research
- clinical trials
- Medicine
- Dementia
- Neurology
- Neurophysiology
Our work focuses on the exploration of disease heterogeneity in ALS. In 2006 we identified ALS9, caused by variants in ANG (Greenway Nature Genetics 2006), and we have contributed to most European GWAS studies of ALS (van Rheenen Nature Genetics 2016). We have shown that ALS rates are reduced in admixed populations, and that ancestral populations differ from one another in the frequency of known variants (Zaldivar Neurology 2009).
We have a population-based ALS Register that has ascertained all cases of ALS in Ireland over 22 years, now comprising extensive data from over 2200 patients and linked to a DNA bank of over 1100 cases and matched controls with links to datasets across Europe and Latin America. We have shown that ALS and Schizophrenia are biologically linked (Byrne Ann Neurol 2013).
We are whole genome sequencing 'superfamilies' from 700 Irish ALS patients and 300 controls, and have access to 22000 whole genome sequences through the Project MinE Consortium. We have longitudinal 3T imaging from over 100 ALS patients and matched controls, and linked longitudinal spectral EEG recordings from 90 patients providing evidence of network disruption in ALS with correlation between structural MRI and spectral EEG.