I am Professor of Neurology and Genomic Medicine at Imperial College London, and Honorary Consultant Neurologist at Imperial College Healthcare NHS Trust.
My research focuses on the systems-level integration of genetic, genomic and phenotypic data to identify causal functional pathways underlying disease. Using gene regulatory approaches, disease-associated functional pathways and cell-type specific gene expression signatures are then targeted to identify novel therapeutic strategies which cannot be captured using traditional reductionist strategies.
My research is funded by the MRC, UCB Pharma, the NIHR Biomedical Research Centres Scheme, the EU FP7 Framework and the Brain Tumour Research Campaign (www.wayahead-btrc.org).
My clinical activity is in general neurology and epilepsy with a particular focus on the autoimmune and tumour associated epilepsies. I am a core member of the Imperial College Healthcare neuro-oncology multidisciplinary team.
I am a member of the International League Against Epilepsy (ILAE) Task Force on Epigenetics, the Epi4K, EpiPGx and EPITARGET international consortia for epilepsy research, Epilepsy Action's Scientific Awards Panel, and an Advisor to the Commonwealth Scholarship Commission, the UK Parliamentary Health Ombudsman and Motorsport UK.
Fellow of the Royal College of Physicians (FRCP)
Fellow of the Royal Australasian College of Physicians (FRACP)
Fellow of the Royal Society of Medicine
Member of the Association of British Neurologists
Member of the British Medical Association
Member of International League Against Epilepsy
et al., 2018, Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies, Nature Communications, Vol:9, ISSN:2041-1723
et al., 2018, A systems-level framework for drug discovery identifies Csf1R as an anti-epileptic drug target, Nature Communications, Vol:9, ISSN:2041-1723
et al., 2017, Reevaluation of SNP heritability in complex human traits, Nature Genetics, Vol:49, ISSN:1061-4036, Pages:986-+
Symonds JD, Zuberi SM, Johnson MR, 2017, Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment, Current Opinion in Neurology, Vol:30, ISSN:1350-7540, Pages:193-199
et al., 2017, Genome-wide analysis of differential RNA editing in epilepsy, Genome Research, Vol:27, ISSN:1088-9051, Pages:440-450
et al., 2017, Ultra-rare genetic variation in common epilepsies: a case-control sequencing study, Lancet Neurology, Vol:16, ISSN:1474-4422, Pages:135-143
et al., 2016, Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery, Genome Biology, Vol:17, ISSN:1474-760X
et al., 2016, Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease, Nature Neuroscience, Vol:19, ISSN:1097-6256, Pages:223-+
et al., 2015, Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus, Nature Communications, Vol:6, ISSN:2041-1723
et al., 2014, Describing the genetic architecture of epilepsy through heritability analysis, Brain, Vol:137, ISSN:0006-8950, Pages:2680-2689
International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address: firstname.lastname@example.org, 2014, Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies., Lancet Neurol, Vol:13, Pages:893-903
et al., 2014, A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy, Human Molecular Genetics, Vol:23, ISSN:0964-6906, Pages:247-258
et al., 2013, Faciobrachial dystonic seizures: the influence of immunotherapy on seizure control and prevention of cognitive impairment in a broadening phenotype, Brain, Vol:136, ISSN:0006-8950, Pages:3151-3162
et al., 2013, De novo mutations in epileptic encephalopathies., Nature, Vol:501, Pages:217-221
et al., 2012, Improved Heritability Estimation from Genome-wide SNPs, American Journal of Human Genetics, Vol:91, ISSN:0002-9297, Pages:1011-1021
Johnson MR, Shorvon SD, 2011, Heredity in epilepsy: Neurodevelopment, comorbidity, and the neurological trait, Epilepsy & Behavior, Vol:22, ISSN:1525-5050, Pages:421-427