Our experts

Area of expertise

• Psychiatric genetics
• Clinical genomics
• Modelling neuropsychiatric disorders
• Stem cell technologies

Background

Dr Johnstone completed her PhD in developmental neurobiology at King’s College, London and qualified in medicine at the University of Glasgow. She trained as a psychiatrist at the Institute of Institute of Psychiatry, Psychology and Neuroscience and then in Edinburgh as a Wellcome Trust Clinical Research Fellow and Honorary Consultant Psychiatrist before returning to the Trust to work within the National Psychosis Unit.

Her research interests are in the clinical and molecular mechanisms underlying psychiatric disorders, and schizophrenia in particular. Over the past decade major advances have been made in our understanding of the genetic contribution to schizophrenia and related neurodevelopmental disorders presenting a valuable opportunity to translate these findings to the clinic such that we can provide our patients in psychiatry with similar clinical genomic services as are provided in other areas of medicine. By identifying genetically at risk and affected individuals and families, clinicians will have the opportunity to provide pro-active care at the earliest opportunity and allow patients to make more informed decisions about their care and treatments working in parallel with genetic counselling services.

Dr Johnstone provides psychiatry consultant leadership to the scoping and development of clinical genomic services for the Trust and is based within the NPU.

Education and Training

• MB ChB (University of Glasgow Medical School), 2004
• PhD in Developmental Neurobiology (King’s College, London), 1996
• BSc. (Hons) in Biochemistry (University of Stirling), 1992

Publications

Vasistha, N., Johnstone, M., Barton, S., Steffen, M., Thangaraj, B., Dando, O., Grunewald, E., Alloza, C., Bastin, M., Livesey, M., Economides, K., Magnani, D., Makedonopolou, P., Burr, K., Story, D.J., Blackwood, D.H.R., Wyllie, D., McIntosh, A.M., Millar, K.M., ffrench-Constant, C., Hardingham, G.E., Lawrie, S.M., and Chandran, S. (2019). Familial t(1,11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte-myelin dysfunction. Molecular Psychiatry 24, 1641-1654. doi: 10.1038/s41380-019-0505-2. Also bioRxiv doi: https://doi.org/10.1101/657163.

Epi25 Collaborative (Johnstone, M.-Consortia member) (2019). Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals, The American Journal of Human Genetics, 105(2), 267-282. doi: 10.1016/j.ajhg.2019.05.020.

Johnstone, M., Vasistha, N.A., Barbu, M.C., Glen, S., Burr, K., Christopher, E., Dando, O., Robert, C., Fetit, R., Livesey, M. R., St. Clair, D., Blackwood, D.H.R., Millar, K., Hardingham, G.E., Wyllie, D.J.A., Johnstone, E.C., Whalley, H.C., McIntosh, A.M., Lawrie, S.M., and Chandran, S. (2019). Reversal of proliferation deficits caused by chromosome 16p13.11 microduplication through targeting NFB signaling: An integrated study of patient-derived neuronal precursor cells, cerebral organoids and in vivo brain imaging. Molecular Psychiatry 24, 294-311. doi: 10.1038/s41380-018-0292-1. 

Malavasi, E.L.V., Economides, K.D., Grünewald, E., Makedonopoulou, P., Gautier, P., Mackie, S., Murphy, L.C., Murdoch, H., Crummie, D., Ogawa, F., McCartney, D.L., O’Sullivan, S.T., Burr, B., Torrance, H.S., Phillips, J., Bonneau, M., Anderson, S.M., Perry, P., Pearson, M., Constantinides, C., Davidson-Smith, H., Kabiri, M., Duff, B., Johnstone, M., Polites, H.G., Lawrie, S.M., Blackwood, D.H.R., Semple, C.A., Evans, K.L., Didier, M., Chandran, S., McIntosh, A.M., Price, D.J., Houslay, M.D., Porteous, D.J., and Millar, J.K. (2018). Altered N-Methyl-D-Aspartate receptor dynamics and synapse abnormalities induced by Disc1 mutation. Translational Psychiatry 8, 184.

Barbu, M. C., Zeng, Y., Shen, X., Cox, S.R., Clarke, T.K., Gibson, J., Adams, M., Johnstone, M., Haley, C., Lawrie, S. M., Deary, I. J., Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, McIntosh, A. M., Whalley, H. C. (2018). Association of whole-genome and NETRIN1 signaling pathway-derived polygenic risk scores for Major Depressive Disorder and thalamic radiation white matter microstructure in UK Biobank. Biological Psychiatry 4, 91-100. doi: 10.1016/j.bpsc.2018.07.006.

Johnstone, M. and Fetit, R. (2018). HippoCA3mpal Stem Cell Models Expose Dysfunctional Circuits in Schizophrenia. Cell Stem Cell 22, 609-611. doi.org/10.1016/j.stem.2018.04.008

St. Clair, D. and Johnstone, M. (2018). Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism. Philosophical Transactions of Royal Society B 373:20170037. doi:10.1098/rstb.2017.0037

Johnstone, M., Hillary, R. F., St. Clair, D. (2018) “Stem Cells to Inform the Neurobiology of Mental Illness”. Chapter. Biomarkers in Neuropsychiatry: A Prospect for the Twenty-First Century? Current Topics in Behavioral Neurosciences. (Judith Pratt and Jeremy Hall Eds.), 1st ed. Springer International Publishing AG, 2018. 40:3-10. https://doi.org/10.1007/7854_2018_57

Singh, T.J., Walter, J.T.R., Johnstone, M. et al. (2017). The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nature Genetics 49, 1167-1173. doi:10.1038/ng.3903

Johnstone, M., Vasistha, N., Whalley, H., Burr, K., St. Clair, D., Blackwood, D., Johnstone, E., Lawrie, S., McIntosh, A., Chandran, S. (2017). Modelling Schizophrenia in Human Induced Pluripotent Stem Cells (hiPSCs): Phenotypic Differences in Patients with Mutations in NDE1. Biological Psychiatry 81(10), S178-179.

Reiner, O., Johnstone, M., Sapir, T. (2017). Novel Insights, Modeling and Translational Approaches in Autism-Schizophrenia Spectrum Diseases. European Neuropsychopharmacology 27, S509.

Johnstone, M., Vasistha, N., Livesey, M., Burr, K., Whalley, H., et al. (2017). Modeling a Genetic Risk for Schizophrenia in Human Induced Pluripotent Stem Cells (IPSCs): Phenotypic Differences in Patients with Mutations in Nde1. European Neuropsychopharmacology 27, S509-S510.

Singh, T.J., et al. (2016). Rare SETD1A loss-of-function variants are associated with schizophrenia and developmental disorders. Nature Neuroscience 19, 571-577. doi:10.1038/nn.4267

Nithianantharajah, J., McKechanie, A.G., Stewart, T.J., Johnstone, M., Blackwood, D.H., St Clair, D., Grant, S.G.N., Bussey, T. and Saksida, L.M. (2015). Bridging the translational divide: identical cognitive touchscreen testing in mice and humans carrying mutations in a disease-relevant homologous gene. Scientific Reports 5, Article number: 14613.

Johnstone, M., Maclean, A., Heyrman, L., Lenaerts, A., Nordin, A., Nilsson, L., De Rijk, P., Goossens, D., Adolfsson, D., St. Clair, D.M., Hall, J., Lawrie, S.M., McIntosh, A.M., Del-Favero, J., Blackwood, D.H.R. and Pickard, B.S. (2015). Copy-number variations in DISC1 and DISC1-interacting partners in major mental illness. Molecular Neuropsychiatry 1:175-190.

Escudero, I. and Johnstone, M. (2014). Genetics of Schizophrenia. Current Psychiatry Rep. 16(11):502-508.

Morris, D. W., et al. (2014). An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis. Hum Mol Genet. 23(12): 3316–3326.

Derks, E. M., Ayub, M., Chambert, K., Del Favero, J., Johnstone, M., MacGregor, S., Maclean, A., McKechanie, A., McRae, A. F., Moran, J. L., Pickard, B. S., Purcell, S., Sklar, P., St. Clair, D. M., Wray, N. R., Visscher, P.M., Blackwood, D.H.R. (2013). A genome wide survey supports the involvement of large copy number variants in schizophrenia with intellectual disability. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162B:847-854.

Nithianantharajah, J., Komiyama, N. H., McKechanie, A., Johnstone, M., Blackwood, D.H.R., St. Clair, D. M., Emes, R.D., van de Lagemaat, L. N., Saksida, L.M., Bussey, T.J., Grant, S.G.N. (2013). Synaptic scaffold evolution generated components of cognitive complexity and mental illness. Nature Neuroscience, 16:16-24.

Van Den Bossche, M.J., Johnstone, M., Strazisar, M., Pickard, B. S., Goossens, D., Lenaerts, A-S., De Zutter, S., Nordin, A., Norrback, K-F., Mendlewicz, J., Souery, D., De Rijk, P., Sabbe, B. G., Adolfsson, R., Blackwood, D., and Del-Favero, J. (2012). Rare copy number variants in neuropsychiatric disorders: specific phenotype or not?. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B: 812–822.

Johnstone, Mandy and Eve Johnstone (2012). "Schizophrenia And The Dopamine Hypothesis". Chapter 32 Understanding Medical Research: The Studies That Shaped Medicine. (John A. Goodfellow, ed), 1st ed. London: Wiley-Blackwell.

Pickard, B.S., Van Den Bossche, M.J.A., Malloy, M.P., Johnstone, M., Lenaerts, A-S., Nordin, A., Goossens, D., St Clair, D., Muir, W.J., Nilsson, L-G., Sabbe, B., Adolfsson, R., Blackwood, D.H.R., and Del-Favero, J. (2012). Multiplex amplicon quantification screening the ABCA13 gene for copy number variation in schizophrenia and bipolar disorder. Psychiatric Genetics, 22(5): 269-270.

Whalley, H.C., Sussman, J., Johnstone, M., Romaniuk, L., Chakirova, G., Mukerjee, P., Hall, J., Johnstone, E., McIntosh, A. and Lawrie, S.M. (2012). Effects of the DISC1 Leu607Phe polymorphism on brain activation in two separate cohorts at familial risk of bipolar disorder and schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B: 343–353.

Johnstone, M. (2012). Help Them Beat the Booze: How to Survive Life with a Problem Drinker. Alcohol and alcoholism, 47(4): 494.

Johnstone, M. (2012). Addictions-Clinical Psychology: A Modular Course. Alcohol and Alcoholism, 47(3): 363.

Johnstone, M., Thomson, P.A., Hall, J., McIntosh, A., Lawrie, S.M. and Porteous, D.J. (2011). DISC1 in schizophrenia: Genetic mouse models and human genomic imaging. Schizophrenia Bulletin, 37: 14-20.

Johnstone, M., Gearing, A.J.H. and Miller, K.M. (1999). A central role for astrocytes in the inflammatory response to b-amyloid: chemokines, cytokines and reactive oxygen species are produced. Journal of Neuroimmunology, 93:182-193.

Johnstone, M., Goold, R.G., Bei, D., Fischer, I. and Gordon-Weeks, P.R. (1997). Localisation of microtubule-associated protein 1B phosphorylation sites recognised by monoclonal antibody SMI-31. Journal of Neurochemistry, 69:1417-1424.

Johnstone, M., Goold, R.G., Fischer, I. and Gordon-Weeks, P.R. (1997). The neurofilament antibody RT97 recognises a developmentally regulated phosphorylation epitope on microtubule-associated protein (MAP) 1B. Journal of Anatomy, 191:229-244.

Bush M., Johnstone M., and Gordon-Weeks P. R. (1996) The role of microtubules in axonal growth cones, in Nerve Growth and Guidance, Frontiers in Neurobiology, 3 (McCaig C. D., ed), pp. 35—53. Portland Press Ltd., London. 

Gordon-Weeks, P.R., Johnstone, M. and Bush, M.S. (1995). Phosphorylation of microtubule-associated protein 1B and axon growth. Biochemical Society Transactions, 23:37-40.

Gordon-Weeks, P.R., Mansfield, S.G., Alberto, C., Johnstone, M. and Moya, F. (1992). A phosphorylation epitope on MAP1B that is transiently expressed in growing axons in the developing rat nervous system. European Journal of Neuroscience, 5:1302-1311.