Professor Stephen Sawcer

University Position

Professor

Interests

My group researches multiple sclerosis. We use genetic analysis to identify relevant variants and then attempt to understand the immunological and neurobiological consequences of these using expression studies and functional assays. As well as continuing efforts to identify variants influencing susceptibility we are also undertaking studies to identify the genetic factors influencing the clinical course of the disease and its response to treatment. Working in collaboration with the International Multiple Sclerosis Genetics Consortium (IMSGC, https://www.imsgenetics.org/) and the Wellcome Trust Case Control Consortium (WTCCC, http://www.wtccc.org.uk/) we have already identified over 100 variants associated with susceptibility. In parallel with our on-going genetic studies we are now also investigating how these variants influence gene expression in immune cells from the blood and the CSF, and undertaking functional assays to determine the effects of selected variants.

Key Publications

Association of the human leucocyte antigen region with susceptibility to Parkinson’s disease.

DOI: http://doi.org/10.1136/jnnp.2008.162883
Journal: J Neurol Neurosurg Psychiatry
E-pub date: 31 Aug 2010
Authors: M Saiki, A Baker, CH Williams-Gray, T Foltynie, RS Goodman, CJ Taylor, DAS Compston, RA Barker, SJ Sawcer, A Goris

The distinct cognitive syndromes of Parkinson’s disease: 5 year follow-up of the CamPaIGN cohort.

DOI: http://doi.org/10.1093/brain/awp245
Journal: Brain
E-pub date: 1 Nov 2009
Authors: CH Williams-Gray, JR Evans, A Goris, T Foltynie, M Ban, TW Robbins, C Brayne, BS Kolachana, DR Weinberger, SJ Sawcer, RA Barker

IL-21 drives secondary autoimmunity in patients with multiple sclerosis, following therapeutic lymphocyte depletion with alemtuzumab (Campath-1H).

DOI: http://doi.org/10.1172/JCI37878
Journal: J Clin Invest
E-pub date: 1 Jul 2009
Authors: JL Jones, C-L Phuah, AL Cox, SA Thompson, M Ban, J Shawcross, A Walton, SJ Sawcer, A Compston, AJ Coles

Apolipoprotein E genotype as a risk factor for susceptibility to and dementia in Parkinson’s disease.

DOI: http://doi.org/10.1007/s00415-009-0119-8
Journal: J Neurol
E-pub date: 1 Mar 2009
Authors: CH Williams-Gray, A Goris, M Saiki, T Foltynie, DAS Compston, SJ Sawcer, RA Barker

Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson’s disease.

DOI: http://doi.org/10.1002/ana.21192
Journal: Ann Neurol
E-pub date: 31 Aug 2007
Authors: A Goris, CH Williams-Gray, GR Clark, T Foltynie, SJG Lewis, J Brown, M Ban, MG Spillantini, A Compston, DJ Burn, PF Chinnery, RA Barker, SJ Sawcer

Publications

Neuroanatomical substrates of generalized brain dysfunction in COVID-19.

DOI: http://doi.org/10.1007/s00134-020-06241-w
Journal: Intensive Care Med
E-pub date: 1 Jan 2021
Authors: VFJ Newcombe, LRB Spindler, T Das, S Winzeck, K Allinson, EA Stamatakis, DK Menon, Cambridge NeuroCovid Imaging Collaborators

Neurological and neuropsychiatric complications of COVID-19 in 153 patients: a UK-wide surveillance study.

DOI: http://doi.org/10.1016/S2215-0366(20)30287-X
Journal: Lancet Psychiatry
E-pub date: 1 Oct 2020
Authors: A Varatharaj, N Thomas, MA Ellul, NWS Davies, TA Pollak, EL Tenorio, M Sultan, A Easton, G Breen, M Zandi, JP Coles, H Manji, R Al-Shahi Salman, DK Menon, TR Nicholson, LA Benjamin, A Carson, C Smith, MR Turner, T Solomon, R Kneen, SL Pett, I Galea, RH Thomas, BD Michael, CoroNerve Study Group

Deletions at 22q11.2 in idiopathic Parkinson’s disease: a combined analysis of genome-wide association data.

DOI: http://doi.org/10.1016/S1474-4422(16)00071-5
Journal: Lancet Neurol
E-pub date: 1 May 2016
Authors: KY Mok, U Sheerin, J Simón-Sánchez, A Salaka, L Chester, V Escott-Price, K Mantripragada, KM Doherty, AJ Noyce, NE Mencacci, SJ Lubbe, International Parkinson's Disease Genomics Consortium (IPDGC), CH Williams-Gray, RA Barker, KD van Dijk, HW Berendse, P Heutink, J-C Corvol, F Cormier, S Lesage, A Brice, K Brockmann, C Schulte, T Gasser, T Foltynie, P Limousin, KE Morrison, CE Clarke, S Sawcer, TT Warner, AJ Lees, HR Morris, MA Nalls, AB Singleton, J Hardy, AY Abramov, V Plagnol, NM Williams, NW Wood

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease.

DOI: http://doi.org/10.1038/ng.3043
Journal: Nat Genet
E-pub date: 1 Sep 2014
Authors: MA Nalls, N Pankratz, CM Lill, CB Do, DG Hernandez, M Saad, AL DeStefano, E Kara, J Bras, M Sharma, C Schulte, MF Keller, S Arepalli, C Letson, C Edsall, H Stefansson, X Liu, H Pliner, JH Lee, R Cheng, International Parkinson's Disease Genomics Consortium (IPDGC), Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI), 23andMe, GenePD, NeuroGenetics Research Consortium (NGRC), Hussman Institute of Human Genomics (HIHG), Ashkenazi Jewish Dataset Investigator, Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE), North American Brain Expression Consortium (NABEC), United Kingdom Brain Expression Consortium (UKBEC), Greek Parkinson's Disease Consortium, Alzheimer Genetic Analysis Group, MA Ikram, JPA Ioannidis, GM Hadjigeorgiou, JC Bis, M Martinez, JS Perlmutter, A Goate, K Marder, B Fiske, M Sutherland, G Xiromerisiou, RH Myers, LN Clark, K Stefansson, JA Hardy, P Heutink, H Chen, NW Wood, H Houlden, H Payami, A Brice, WK Scott, T Gasser, L Bertram, N Eriksson, T Foroud, AB Singleton

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson’s disease with a sexual dimorphism.

DOI: http://doi.org/10.1136/jnnp-2012-304475
Journal: J Neurol Neurosurg Psychiatry
E-pub date: 1 Jun 2013
Authors: S Klebe, J-L Golmard, MA Nalls, M Saad, AB Singleton, JM Bras, J Hardy, J Simon-Sanchez, P Heutink, G Kuhlenbäumer, R Charfi, C Klein, J Hagenah, T Gasser, I Wurster, S Lesage, D Lorenz, G Deuschl, F Durif, P Pollak, P Damier, F Tison, A Durr, P Amouyel, J-C Lambert, C Tzourio, C Maubaret, F Charbonnier-Beaupel, K Tahiri, M Vidailhet, M Martinez, A Brice, J-C Corvol, French Parkinson's Disease Genetics Study Group, International Parkinson's Disease Genomics Consortium (IPDGC)

Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort.

DOI: http://doi.org/10.1093/brain/aws318
Journal: Brain
E-pub date: 1 Feb 2013
Authors: SE Winder-Rhodes, JR Evans, M Ban, SL Mason, CH Williams-Gray, T Foltynie, R Duran, NE Mencacci, SJ Sawcer, RA Barker

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson’s disease.

DOI: http://doi.org/10.1002/mds.25132
Journal: Mov Disord
E-pub date: 1 Oct 2012
Authors: LL Kilarski, JP Pearson, V Newsway, E Majounie, MDW Knipe, A Misbahuddin, PF Chinnery, DJ Burn, CE Clarke, M-H Marion, AJ Lewthwaite, DJ Nicholl, NW Wood, KE Morrison, CH Williams-Gray, JR Evans, SJ Sawcer, RA Barker, MM Wickremaratchi, Y Ben-Shlomo, NM Williams, HR Morris

Genetic and pathological links between Parkinson’s disease and the lysosomal disorder Sanfilippo syndrome.

DOI: http://doi.org/10.1002/mds.24029
Journal: Mov Disord
E-pub date: 1 Feb 2012
Authors: SE Winder-Rhodes, P Garcia-Reitböck, M Ban, JR Evans, TS Jacques, A Kemppinen, T Foltynie, CH Williams-Gray, PF Chinnery, G Hudson, DJ Burn, LM Allcock, SJ Sawcer, RA Barker, MG Spillantini

A two-stage meta-analysis identifies several new loci for Parkinson’s disease.

DOI: http://doi.org/10.1371/journal.pgen.1002142
Journal: PLoS Genet
E-pub date: 1 Jun 2011
Authors: International Parkinson's Disease Genomics Consortium (IPDGC), Wellcome Trust Case Control Consortium 2 (WTCCC2)

Imputation of sequence variants for identification of genetic risks for Parkinson’s disease: a meta-analysis of genome-wide association studies.

DOI: http://doi.org/10.1016/S0140-6736(10)62345-8
Journal: Lancet
E-pub date: 19 Feb 2011
Authors: International Parkinson Disease Genomics Consortium, MA Nalls, V Plagnol, DG Hernandez, M Sharma, U-M Sheerin, M Saad, J Simón-Sánchez, C Schulte, S Lesage, S Sveinbjörnsdóttir, K Stefánsson, M Martinez, J Hardy, P Heutink, A Brice, T Gasser, AB Singleton, NW Wood

No evidence for association between an MAOA functional polymorphism and susceptibility to Parkinson’s disease.

DOI: http://doi.org/10.1007/s00415-009-0899-x
Journal: J Neurol
E-pub date: 1 Jan 2009
Authors: C Williams-Gray, A Goris, T Foltynie, A Compston, S Sawcer, RA Barker

Investigation of TGFB2 as a candidate gene in multiple sclerosis and Parkinson’s disease.

DOI: http://doi.org/10.1007/s00415-006-0414-6
Journal: J Neurol
E-pub date: 1 Jul 2007
Authors: A Goris, CH Williams-Gray, T Foltynie, J Brown, M Maranian, A Walton, DAS Compston, RA Barker, SJ Sawcer

No evidence for association with Parkinson disease for 13 single-nucleotide polymorphisms identified by whole-genome association screening.

DOI: http://doi.org/10.1086/504726
Journal: Am J Hum Genet
E-pub date: 1 Jun 2006
Authors: A Goris, CH Williams-Gray, T Foltynie, DAS Compston, RA Barker, SJ Sawcer

Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson’s disease cohort.

DOI: http://doi.org/10.1136/jnnp.2005.085019
Journal: J Neurol Neurosurg Psychiatry
E-pub date: 1 May 2006
Authors: CH Williams-Gray, A Goris, T Foltynie, J Brown, M Maranian, A Walton, DAS Compston, SJ Sawcer, RA Barker

No alterations in alpha-synuclein gene dosage observed in sporadic Parkinson’s disease.

DOI: http://doi.org/10.1002/mds.20863
Journal: Mov Disord
E-pub date: 1 May 2006
Authors: CH Williams-Gray, A Goris, T Foltynie, J Brown, M Maranian, A Walton, DA Compston, SJ Sawcer, RA Barker