My main research objective is to improve the clinical outcome for patients, and to understand the biology of the age-related neurodegenerative disease in humans that is Amyotrophic Lateral Sclerosis(ALS), (also known as Motor Neurone Disease (MND)), and to contribute to the development of new and more effective treatments for this and related conditions, including post polio syndrome, multifocal motor neuropathy and others.
Highlights of my research career as as follows: 2006: Discovery of ANG (ALS9) as causative gene in Amyotrophic Lateral Sclerosis (Nature Genetics 2006); 2009: Conclusive evidence that rates of ALS are reduced in admixed populations (Neurology 2009) ; 2012: First description of population based incidence and prevalence of cognitive change in ALS 2012: First description of detailed phenotype associated with C9orf72.( Lancet Neurol 2012) 2013: Epidemiologic evidence of a genetic link between C9orf-72 and non-C9orf72 related ALS and neuropsychiatric disease (Ann Neurol 2013); 2013 First structural imaging based evidence of basal ganglia invovement in ALS (Neurology ,2013) 2013: First longitudinal study of cognition in ALS (Neurology 2013) 2015: Proof that multidisciplinary clinics improve survival in ALS (JNNP, 2015) ; 2017: Proof of strong genetic evidence of a link between ALS and schizophrenia (Nature Com) 2017: First Correlation of EEG changes with MRI changes in neurodegenerations (Cortex 2017).
Books: Neurodegenerative Disorders (Second Edition) ( editors Hardiman, Doherty, Bede, Elamin) Springer.
