Yr Athro Julie Williams

Professor of Neuropsychiatric Genetics & Genomics

: WilliamsJ@caerdydd.ac.uk
: +44 29206 88326
: Adeilad Hadyn Ellis, Ystafell 1.03 - Office A, Heol Maendy, Caerdydd, CF24 4HQ

: Sylwebydd y cyfryngau

Julie is now a senior figure in the field of Alzheimer’s disease research. Her publication in 2009 (Harold et al., Nature Genetics) of the first new susceptibility genes for 17 years defined a pivotal moment in Alzheimer’s genetics research. This work was cited by TIME, as one of the top ten medical breakthroughs of 2009. Since then, the consortium she leads, GERAD (Genetic and Environmental Risk in Alzheimer’s Disease), has continued the momentum and has played a leading role in further discoveries. Early in her career, she recognized the complexity of AD genetics and began focusing her research on developing larger, more powerful studies. She is currently one of the four leaders of the International Genomics of Alzheimer’s Project (IGAP) genetics consortium. This incorporates over 200 scientists from Europe and the USA and has access to more than 90,000 AD cases and controls. Recent studies by the IGAP consortium have identified over 27 new susceptibility loci for AD. Her research has encompassed GWAS, sequencing, large exome chip association studies, as well as addressing more complex phenotypic analyses (e.g. AD and psychosis, depression, rate of decline), cross disease analyses (e.g. AD and Parkinson’s disease, ALS, schizophrenia) and complex statistical analyses (e.g. gene-wide/burden, pathway analyses). What is striking about her group’s findings is that the genes identified show patterns of relationship, which implicate novel disease mechanisms, including immunity, endocytosis, lipid transport and ubiquination.

Julie has served on the MRC Neuroscience and Mental Health Board and the Scientific Advisory Board of Alzheimer’s Research UK. She has shown leadership at a National strategic level. In 2008, she became Chief Scientific Advisor to Alzheimer’s Research UK and used this position to broaden the funding options available to scientists and to increase research capacity and training in the area, actively campaigning to keep the importance of dementia research on the national agenda. Julie also advised UK and Welsh governments on dementia policy. She was appointed Dean of Research, at the School of Medicine at Cardiff University and her contribution to Alzheimer’s disease research was nationally recognised when she was made a Commander of the Order of the British Empire (C.B.E.) in the Queen’s Jubilee Birthday Honours list 2012.

In September 2013, appointed as Chief Scientific Advisor (CSA) to the Welsh Government, Julie identified the overriding issue facing science in Wales was one of capacity and developed a science strategy ‘Ser Cymru 2’ to address this which was adopted as policy by the Welsh Government. Ser Cymru (Welsh Stars) focuses both on building current research strength by attracting international fellows to partner excellent researchers in Wales and on establishing new research, attracting early career researchers and stellar scientists and their groups to Wales. Julie’s team in Welsh Government was successful in winning the largest Marie-Sklodowska Curie Fellowship grant, amounting to over €23m, to fund 90 fellows across STEMM research into Wales and also won funding from European Structural Funds to co-fund rising stars and stars, bringing the total package to over £60m over the next five years. Julie developed a governance structure comprising an independent Assessment Board chaired by Dr Wendy Ewart to advise on funding excellence, a council made up of stakeholders and University representatives, chaired by the CSA, to make the final funding decisions. Julie also established her own Scientific Advisory Council (chaired by Prof Robin Williams).

As CSA Wales, Julie commissioned a report on women in science published in 2016 (Talented Women for a Successful Wales). This work was commissioned to help address a gender imbalance, particularly in the areas of STEMM. The resulting report covers issues such as making the study of STEMM subjects relevant and rewarding for girls, recruiting more women into STEMM retaining women in the STEMM workforce and encouraging women into leadership roles.

Date
Type

2024

Owens, H. A. et al. 2024. Alzheimer’s disease-associated P460L variant of EphA1 dysregulates receptor activity and blood brain barrier function. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 20(3), pp. 2016-2033. (10.1002/alz.13603)
Le Borgne, J. et al. 2024. Association of MGMT and BIN1 genes with Alzheimer's disease risk across sex and APOE ε4 status. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 20(3), pp. 2282-2284. (10.1002/alz.13550)
Allen, N. et al. 2024. Prospective study design and data analysis in UK Biobank. Science Translational Medicine 16(729), article number: eadf4428. (10.1126/scitranslmed.adf4428)

2000

Myers, A. et al. 2000. Susceptibility locus for Alzheimer's disease on chromosome 10. Science 290(5500), pp. 2304-2305. (10.1126/science.290.5500.2304)
Deb, S., Williams, J. and Owen, M. J. 2000. Apolipoprotein E, Alzheimer's disease and Down's syndrome - Reply. British Journal of Psychiatry 177, pp. 469-470.
Jones, L. A. et al. 2000. The kings schizotypy questionnaire as a quantitative measure of schizophrenia liability. Schizophrenia Research 45(3), pp. 213-221. (10.1016/S0920-9964(99)00183-8)
Kington, J. M., Jones, L. A., Watt, A. A., Hopkin, E. J. and Williams, J. 2000. Impaired eye expression recognition in schizophrenia. Journal of Psychiatric Research 34(4-5), pp. 341-347.
Deb, S., Braganza, J., Norton, N., Williams, H., Kehoe, P. G., Williams, J. and Owen, M. J. 2000. APOE epsilon 4 influences the manifestation of Alzheimer's disease in adults with Down's syndrome. British Journal of Psychiatry 176, pp. 468-472. (10.1192/bjp.176.5.468)
Morris, D. W. et al. 2000. Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q. Human Molecular Genetics 9(5), pp. 843-848. (10.1093/hmg/9.5.843)
Tunstall, N. et al. 2000. Familial influence on variation in age of onset and behavioural phenotype in Alzheimer's disease. British Journal of Psychiatry 176, pp. 156-159. (10.1192/bjp.176.2.156)
Deb, S., Braganza, J., Norton, N., Williams, H., Kehoe, P. G., Williams, J. and Owen, M. J. 2000. Presence of the Apolipoprotein E e4 allele is associated with the manifestation of Alzheimer dementia in adults with Down syndrome. Journal of Intellectual Disability Research 44, pp. 259-259.

1999

Jones, L. A., Sanders, R. D., Cardno, A. G., Owen, M. J. and Williams, J. 1999. Sustained and selective attention as quantitative measures of schizophrenia liability. Molecular Psychiatry 4, pp. S117-S117.
Sanders, R. D., Norton, N., Williams, J. and Owen, M. J. 1999. Pre-pulse inhibition in the functional psychoses. Molecular Psychiatry 4, pp. S121-S121.
Wavrant-De Vrieze, F. et al. 1999. Genetic variability at the amyloid-beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease. Neuroscience Letters 269(2), pp. 67-70.
Williams, J., Kehoe, P. G. and Owen, M. J. 1999. Case-control study of presenelin-1 intronic polymorphism. Journal of Neurology, Neurosurgery & Psychiatry 66(6), pp. 702. (10.1136/jnnp.66.6.702)
Wavrant-DeVrieze, F. et al. 1999. No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease. Neuroscience Letters 262(2), pp. 137-139. (10.1016/S0304-3940(99)00035-X)
Kehoe, P. et al. 1999. A full genome scan for late onset Alzheimer's disease. Human Molecular Genetics 8(2), pp. 237-245. (10.1093/hmg/8.2.237)
Kehoe, P. G. et al. 1999. Variation in DCP1, encoding ACE, is associated with susceptibility to Alzheimer disease. Nature Genetics 21(1), pp. 71-72. (10.1038/5009)

1998

Wu, W. S. et al. 1998. Genetic studies on chromosome 12 in late-onset Alzheimer disease. JAMA - The Journal of the American Medical Association 280(7), pp. 619-622. (10.1001/jama.280.7.619)
Bowen, T. et al. 1998. Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia. Molecular Psychiatry 3(3), pp. 266-269. (10.1038/sj.mp.4000400)
Williams, J. et al. 1998. A meta-analysis and transmission disequilibrium study of association between the dopamine D3 receptor gene and schizophrenia. Molecular Psychiatry 3(2), pp. 141-149.
Spurlock, G. et al. 1998. European Multicentre Association Study of Schizophrenia: a study of the DRD2 Ser311Cys and DRD3 Ser9Gly polymorphisms. American Journal of Medical Genetics 81(1), pp. 24-28. (10.1002/(SICI)1096-8628(19980207)81:1<24::AID-AJMG5>3.0.CO;2-N)

1997

Williams, J., McGuffin, P., Nothen, . and Owen, M. J. 1997. A meta analysis of association between the 5-HT2a receptor, T102C polymorphism and schizophrenia. American Journal of Medical Genetics 74(6), pp. 612-612.
Williams, J., McGuffin, P., Nothen, M. and Owen, M. J. 1997. Meta-analysis of association between the 5-HT2a receptor T102C polymorphism and schizophrenia.. The Lancet 349(9060), pp. 1221. (10.1016/S0140-6736(05)62413-0)
Spurlock, G. et al. 1997. Meta-analysis of association studies between schizophrenia and polymorphisms of the 5-hydroxytryptamine type 2A receptor gene. Schizophrenia Research 24(1-2), pp. 91. (10.1016/S0920-9964(97)82247-5)
Williams, N. M. et al. 1997. No evidence for an allelic association between schizophrenia and markers D22S278 and D22S283. American Journal of Medical Genetics 74(1), pp. 37-39. (10.1002/(SICI)1096-8628(19970221)74:1<37::AID-AJMG8>3.0.CO;2-S)

1996

Cardno, A. G. et al. 1996. Factor analysis of schizophrenic symptoms using the OPCRIT checklist. Schizophrenia Research 22(3), pp. 233-239. (10.1016/S0920-9964(96)00060-6)
O'Donovan, M. C. et al. 1996. Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder. Psychological Medicine -London- 26(6), pp. 1145-1153. (10.1017/s0033291700035868)
Kehoe, P. et al. 1996. Association between a PS-1 intronic polymorphism and late onset Alzheimer's disease. NeuroReport 7(13), pp. 2155-2158. (10.1097/00001756-199609020-00019)
Owen, M. J., Kehoe, P. and Williams, J. 1996. Presenilin-1 polymorphism and Alzheimer's disease. The Lancet 348(9024), pp. 414. (10.1016/S0140-6736(05)65041-6)
Williams, J., Farmer, A. E., Ackenheil, M., Kaufmann, C. A. and McGuffin, P. 1996. A multicentre inter-rater reliability study using the OPCRIT computerized diagnostic system. Psychological Medicine 26(4), pp. 775-783. (10.1017/S003329170003779X)
Williams, J. et al. 1996. Association between schizophrenia and T102C polymorphism of the 5-hydroxytryptamine type 2a-receptor gene. European Multicentre Association Study of Schizophrenia (EMASS) Group. The Lancet 347(9011), pp. 1294-1296. (10.1016/S0140-6736(96)90939-3)
Asherson, P. et al. 1996. Linkage, association and mutational analysis of the dopamine D3 receptor gene in schizophrenia. Molecular Psychiatry 1(2), pp. 125-132.
Kehoe, P., Williams, J., Lovestone, S., Wilcock, G. and Owen, M. J. 1996. Presenilin-1 polymorphism and Alzheimer's disease. The UK Alzheimer's Disease Collaborative Group. The Lancet 347(9009), pp. 1185.
Daniels, J. K. et al. 1996. No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol O-methyltransferase activity. American Journal of Psychiatry 153(2), pp. 268-270. (10.1176/ajp.153.2.268)

1995

Daniels, J., Williams, J., Asherson, P., McGuffin, P. and Owen, M. J. 1995. No association between schizophrenia and polymorphisms within the genes for debrisoquine 4-hydroxylase (CYP2D6) and the dopamine transporter (DAT).. American Journal of Medical Genetics 60(1), pp. 85-87. (10.1002/ajmg.1320600115)

1994

Farmer, A. E., Williams, J. and Jones, I. R. 1994. Phenotypic definitions of psychotic illness for molecular genetic research. American Journal of Medical Genetics 54(4), pp. 365-371. (10.1002/ajmg.1320540416)
Daniels, J., Williams, J., Mant, R., Asherson, P., McGuffin, P. and Owen, M. J. 1994. Repeat length variation in the dopamine D4 receptor gene shows no evidence of association with schizophrenia. American Journal of Medical Genetics 54(3), pp. 256-258. (10.1002/ajmg.1320540313)
Liddell, M. B., Williams, J., Bayer, A. J., Kaiser, F. and Owen, M. J. 1994. Confirmation of association between the e4 allele of apolipoprotein E and Alzheimer's disease. Journal of Medical Genetics 31(3), pp. 197-200. (10.1136/jmg.31.3.197)

1993

Williams, J., Farmer, A. E., Wessely, S., Castle, D. J. and McGuffin, P. 1993. Heterogeneity in schizophrenia: An extended replication of the hebephrenic-like and paranoid-like subtypes. Psychiatry Research 49(3), pp. 199-210. (10.1016/0165-1781(93)90061-K)
Farmer, A. E. and Williams, J. 1993. Defining the phenotype for molecular-genetic research into psychotic illness - problems and solutions. Behavior Genetics 23(6), pp. 551-551.
Mant, R., Williams, J., Asherson, P., Parfitt, E., McGuffin, P. and Owen, M. J. 1993. Susceptibility to schizophrenia and the dopamine d3 receptor gene. American Journal of Human Genetics 53(3), pp. 1654-1654.

1992

Crocq, M. A. et al. 1992. Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.. Journal of Medical Genetics 29(12), pp. 858-860. (10.1136/jmg.29.12.858)
Owen, M. J. et al. 1992. No association between RFLPs at the porphobilinogen deaminase gene and schizophrenia. Human Genetics 90(1-2), pp. 131-132. (10.1007/BF00210756)

Her research focuses upon identifying and understanding genes which increase the risk of developing complex psychological and neurodegenerative disorders. These include Alzheimer's disease, developmental dyslexia and schizophrenia.

She joined the McGuffin/Owen group in 1991 working on the genetics of schizophrenia. Having produced a number of notable papers, she moved focus to Alzheimer's disease, which has remained her main research interest ever since.
Throughout her career she has recognized the importance of working collaboratively and has contributed to or led a number of successful and long standing consortia. She has attracted research funding amounting to several millions of pounds from major grant funders and has published widely in top scientific Journals (e.g., Science, Nature Genetics, Lancet). Recently, she published evidence for the first new susceptibility genes for Alzheimer's disease for 17 years (Harold et. al. (2009), Nat. Genet., 41(10): 1088-93), identifying two new susceptibility genes for AD; CLU and PICALM from a study involving over 20,000 subjects from Europe and the USA . When these results were combined with a second genome-wide association study published alongside (Lambert et al. (2009), Nat. Genet., 41(10): 1094-9) a third gene was confirmed (CR1). These findings were highlighted by Time Magazine as one of the ten most important medical breakthroughs of 2009. Since several other susceptibility genes have been identified which together are pin pointing several potential pathways to disease, many of which are novel.

Over ten years ago she began research into the molecular genetics of developmental dyslexia (DD). Since then she has received funding from the Wellcome Trust, The Health Foundation and the MRC to support sample collection and genotyping. The group have already published significant evidence of a gene KIAA0319 which is a strong susceptibility gene for DD (Cope N et al (2005) Am J Hum Genet 76:581-91; Harold D et al (2006) Mol Psychiatry 11:1085-91, 1061), which was highlighted by the Journal Science as one of the major discoveries of 2005.

March 1991 - April 1992 Research Assistant

Department of Psychological Medicine, University of Wales College of Medicine

April 1992 - August 1996 Lecturer in Behavioural Sciences

Department of Psychological Medicine, University of Wales College of Medicine

August 1996 - August 1999 Senior Lecturer in Behavioural Sciences

Department of Psychological Medicine, University of Wales College of Medicine

August 1999 – October 2001 Reader in Neuropsychological Genetics

Department of Psychological Medicine, University of Wales College of Medicine

October 2012 – September 2013 Dean of Research

Cardiff University School of Medicine

EDUCATION

BSc Occupational Psychology II(i) University of Wales Institute of Science and Technology, 1978.

PhD Psychology University of Wales Institute of Science and Technology, 1987.

Anrhydeddau a dyfarniadau

Director, Genetic and Environmental Risk in Alzheimer’s Disease (GERAD) (2001- ).

Director, PERADES: defining genetic, polygenic and environmental risk of Alzheimer's disease using multiple power cohorts, focused epigenetics and stem cell metabolomics. A consortium of over 170 scientists across the world investigating Alzheimer’s disease. (2012- ).

Co-Director, International Genomic studies of Alzheimer’s Disease (IGAP): a consortium of over 150 scientists from US and Europe with access to 100,000 AD cases and controls (2012- ).

Fellow, Academy of Medical Sciences, (April 2014- ).

Head of Neurodegeneration, MRC Centre for Neuropsychiatric Genetics & Genomics (2009- 2017).

Board Member, Medical Research Council (MRC) Neurosciences and Mental Health Board, including chair of working groups on epidemiology and autism (February 2004 – 2009).

Board Member, Scientific Board, Alzheimer’s Research UK (2005 – 2012).

Chief Scientific Advisor, Alzheimer’s Research Trust (2009 – 2012).

Fellow, Learned Society of Wales (FLSW), (April 2011)

Senior Faculty, Health and Social Care Wales (2013 onward).

Member, Department of Health Advisory Group on Dementia (2010 – 2012).

Member, Welsh Government Advisory Group on Dementia (2010 – 2011).

Member, Steering Group for the Dementias and Neurodegenerative Diseases Research Network (NEURODEM Cymru).

Representative, Dendron Clinical Studies Group on neuropathology and brain banking.

MRC/UK Representative, ERA-NRT NEURON Scientific Advisory Board (2008).

Member, Organising Committee, Alzheimer’s Disease International Conference, 7 – 10th March 2012, London.

Member, Cardiff University Academic Promotions Sub-Committee (March 2006 - 2013).

Commander of the Order of the British Empire (CBE) for services to Alzheimer’s disease research (2012).

Executive, Dementia Platform UK (DPUK: March 2014- ).

Deputy Director, DPUK (August 2016- ).

Director, Cardiff DRI (2017-)

Aelodaethau proffesiynol

Parc Geneteg Cymru
NISCHR Cyfadran - Uwch Aelod o'r Gyfadran

“Rydyn ni’n hynod ddiolchgar am ei gweledigaeth a'i harweinyddiaeth”

Yr Athro Julie Williams

Trosolwyg

Cyhoeddiad

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Erthyglau

Gwefannau

Ymchwil

Bywgraffiad

Anrhydeddau a dyfarniadau

Aelodaethau proffesiynol

Newyddion cysylltiedig

“Rydyn ni’n hynod ddiolchgar am ei gweledigaeth a'i harweinyddiaeth”

Gwobr am wneud cyfraniad rhagorol i faes niwrowyddoniaeth

Genynnau Alzheimer newydd yn cael eu darganfod yn astudiaeth fwyaf y byd