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
Trosolwyg
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.
Cyhoeddiad
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)
2023
- Lancaster, T. et al. 2023. Proof-of-concept recall-by-genotype study of extremely low and high Alzheimer’s polygenic risk reveals autobiographical deficits and cingulate cortex correlates. Alzheimer's Research and Therapy 15, article number: 213. (10.1186/s13195-023-01362-y)
- Ray, N. R. et al. 2023. The early-onset Alzheimer's disease whole-genome sequencing project: Study design and methodology. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 19(9), pp. 4187-4195. (10.1002/alz.13370)
- Le Guen, Y. et al. 2023. Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes. Proceedings of the National Academy of Sciences 120(36), article number: e2302720120. (10.1073/pnas.2302720120)
- Veteleanu, A. et al. 2023. Alzheimer’s disease-associated complement gene variants influence plasma complement protein levels. Journal of Neuroinflammation 20(1), article number: 169. (10.1186/s12974-023-02850-6)
- Luo, J. et al. 2023. Genetic associations between modifiable risk factors and Alzheimer disease. Jama Network Open 6(5), article number: e2313734. (10.1001/jamanetworkopen.2023.13734)
- Stevenson-Hoare, J. et al. 2023. Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer's disease. Brain 146(2), pp. 690-699. (10.1093/brain/awac128)
2022
- Guen, Y. L. et al. 2022. Rare missense variant (R251G) on APOE counterbalances the Alzheimer’s disease risk associated with APOE-ε4. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 18(S4), article number: e060114. (10.1002/alz.060114)
- Guen, Y. L. et al. 2022. Protective association of HLA-DRB1*04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 18(S3), article number: e060159. (10.1002/alz.060159)
- Crawford, K. et al. 2022. Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing. Molecular Psychiatry (10.1038/s41380-022-01926-8)
- Stevenson-Hoare, J. O. et al. 2022. Blood plasma biomarkers improve prediction accuracy over and above genetic predictors of Alzheimer's disease [Abstract]. Alzheimer's & Dementia: The Journal of the Alzheimer's Association 18(S6), article number: e064192. (10.1002/alz.064192)
- Hou, J. et al. 2022. Polygenic resilience scores capture protective genetic effects for Alzheimer’s disease. Translational Psychiatry 12(1), article number: 296. (10.1038/s41398-022-02055-0)
- Crawford, K. et al. 2022. Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways. [Online]. medRxiv: Cold Spring Harbor Laboratory. (10.1101/2022.06.29.22276952) Available at: https://doi.org/10.1101/2022.06.29.22276952
- Le Guen, Y. et al. 2022. Association of rare apoe missense variants v236e and r251g with risk of alzheimer disease. JAMA Neurology 79(7), pp. 652-663. (10.1001/jamaneurol.2022.1166)
- Bellenguez, C. et al. 2022. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics 54(4), pp. 412-436. (10.1038/s41588-022-01024-z)
- Madrid, L. et al. 2022. Multiomics integrative analysis identifies APOE allele-specific blood biomarkers associated to Alzheimer's disease etiopathogenesis. Aging 13(7), pp. 9277-9329. (10.18632/aging.202950)
2021
- Leonenko, G. et al. 2021. Identifying individuals with high risk of Alzheimer’s disease using polygenic risk scores. Nature Communications 12, article number: 4506.
- de Rojas, I. et al. 2021. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications 12(1), article number: 3417. (10.1038/s41467-021-22491-8)
- Harwood, J., Leonenko, G., Sims, R., Escott-Price, V., Williams, J. and Holmans, P. 2021. Defining functional variants associated with Alzheimer's disease in the induced immune response. Brain Communications 3(2), article number: fcab083. (10.1093/braincomms/fcab083)
- Carpanini, S. M., Harwood, J. C., Baker, E., Torvell, M., Sims, R., Williams, J. and Morgan, B. P. 2021. The impact of complement genes on the risk of late-onset Alzheimer's disease. Genes 12(3), article number: 443. (10.3390/genes12030443)
- Chandler, H. L., Wise, R. G., Linden, D. E., Williams, J., Murphy, K. and Lancaster, T. M. 2021. Alzheimer's genetic risk effects on cerebral blood flow are spatially consistent and proximal to gene expression across the lifespan. [Online]. bioRxiv. (10.1101/2020.12.31.424949v1) Available at: https://doi.org/10.1101/2020.12.31.424949
- Femminella, G. D., Harold, D., Scott, J., Williams, J. and Edison, P. 2021. The differential influence of immune, endocytotic, and lipid metabolism genes on amyloid deposition and neurodegeneration in subjects at risk of Alzheimer's disease. Journal of Alzheimer's Disease 79(1), pp. 127-139. (10.3233/JAD-200578)
- Katzourou, I. et al. 2021. Cognitive decline in Alzheimer’s disease is not associated with APOE. Journal of Alzheimer's Disease 84(1), pp. 141-149. (10.3233/jad-210685)
2020
- Koriath, C. et al. 2020. Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Molecular Psychiatry 25, pp. 3399-3412. (10.1038/s41380-018-0224-0)
- Ivanov, D., Bostelmann, G., Lan-Leung, B., Williams, J., Partridge, L., Escott-Price, V. and Thornton, J. 2020. A novel computational approach for predicting complex phenotypes in Drosophila (starvation-sensitive and sterile) by deriving their gene expression signatures from public data. PLoS ONE 15(10), article number: e0240824. (10.1371/journal.pone.0240824)
- Bellou, E. et al. 2020. Age-dependent effect of APOE and polygenic component on Alzheimer's disease. Neurobiology of Aging 93, pp. 69-77., article number: Neurobiology of Aging Volume 93, September 2020, Pages 69-77. (10.1016/j.neurobiolaging.2020.04.024)
- Holstege, H. et al. 2020. Exome sequencing identifies novel AD-associated genes. [Online]. medRxiv. (10.1101/2020.07.22.20159251) Available at: http://dx.doi.org/10.1101/2020.07.22.20159251
- Bauermeister, S. et al. 2020. The Dementias Platform UK (DPUK) data portal. European Journal of Epidemiology 35, pp. 601-611. (10.1007/s10654-020-00633-4)
- Meckelmann, S. W. et al. 2020. Metabolic dysregulation of the lysophospholipid/autotaxin axis in the chromosome 9p21 gene SNP rs10757274. Circulation: Genomic and Precision Medicine 13(3), pp. 149-164., article number: e002806. (10.1161/CIRCGEN.119.002806)
- Sims, R., Hill, M. and Williams, J. 2020. The multiplex model of the genetics of Alzheimer’s disease. Nature Neuroscience 23, pp. 311-322. (10.1038/s41593-020-0599-5)
2019
- Leonenko, G. et al. 2019. Genetic risk for Alzheimer's disease is distinct from genetic risk for amyloid deposition. Annals of Neurology 86(3), pp. 427-435. (10.1002/ana.25530)
- Ma, Y. et al. 2019. CpG‐related SNPs in the MS4A region have a dose‐dependent effect on risk of late–onset Alzheimer disease. Aging Cell 18(4), article number: e12964. (10.1111/acel.12964)
- Baker, E. et al. 2019. Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease. PLoS ONE 14(7), article number: e0218111. (10.1371/journal.pone.0218111)
- Lancaster, T. M., Hill, M. J., Sims, R. and Williams, J. 2019. Microglia - mediated immunity partly contributes to the genetic association between Alzheimer's disease and hippocampal volume. Brain, Behavior, and Immunity 79, pp. 267-273. (10.1016/j.bbi.2019.02.011)
- Kunkle, B. W. et al. 2019. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics 51(3), pp. 414-430. (10.1038/s41588-019-0358-2)
- Koriath, C. et al. 2019. ApoE4 lowers age at onset in patients with frontotemporal dementia and tauopathy independent of amyloid‐β copathology. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring 11(1), pp. 277-280. (10.1016/j.dadm.2019.01.010)
- Leonenko, G. et al. 2019. Polygenic risk and hazard scores for Alzheimer's disease prediction. Annals of Clinical and Translational Neurology 6(3), pp. 456-465. (10.1002/acn3.716)
- Hodgetts, C. J. et al. 2019. Increased posterior default mode network activity and structural connectivity in young adult APOE-ε4 carriers: a multi-modal imaging investigation. Neurobiology of Aging 73, pp. 82-91. (10.1016/j.neurobiolaging.2018.08.026)
2018
- Gusareva, E. S. et al. 2018. Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease. Neurobiology of Aging 72, pp. e3-e12., article number: 188. (10.1016/j.neurobiolaging.2018.08.001)
- Ahmad, S. et al. 2018. Disentangling the biological pathways involved in early features of Alzheimer's disease in the Rotterdam Study. Alzheimer's and Dementia 14(7), pp. 848-857. (10.1016/j.jalz.2018.01.005)
- Baker, E., Schmidt, K. M., Sims, R., O'Donovan, M. C., Williams, J., Holmans, P. and Escott-Price, V. 2018. POLARIS: polygenic LD-adjusted risk score approach for set-based analysis of GWAS data. Genetic Epidemiology 42(4), pp. 366-377. (10.1002/gepi.22117)
- Anttila, V. et al. 2018. Analysis of shared heritability in common disorders of the brain. Science 360(6395), article number: eaap8757. (10.1126/science.aap8757)
- DeMichele-Sweet, M. A. A. et al. 2018. Genetic risk for schizophrenia and psychosis in Alzheimer disease. Molecular Psychiatry 23, pp. 963-972. (10.1038/mp.2017.81)
- Pardinas, A. F. et al. 2018. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nature Genetics 50, pp. 381-389. (10.1038/s41588-018-0059-2)
2017
- Sims, R. et al. 2017. Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics 49, pp. 1373-1384. (10.1038/ng.3916)
- Blauwendraat, C. et al. 2017. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiology of Aging 57, pp. 247-247., article number: e9-e13. (10.1016/j.neurobiolaging.2017.05.009)
- Huang, K. et al. 2017. A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease. Nature Neuroscience 20(8), pp. 1052-1061. (10.1038/nn.4587)
- Lupton, M. K. et al. 2017. No genetic overlap between circulating iron levels and Alzheimer's disease. Journal of Alzheimer's Disease 59(1), pp. 85-99. (10.3233/JAD-170027)
- Escott-Price, V., Shoai, M., Pither, R., Williams, J. and Hardy, J. 2017. Polygenic score prediction captures nearly all common genetic risk for Alzheimer's disease. Neurobiology of Aging 49, pp. 214.e7-214.e11. (10.1016/j.neurobiolaging.2016.07.018)
- Foley, S. F. et al. 2017. Multimodal brain imaging reveals structural differences in Alzheimer's disease polygenic risk carriers: A study in healthy young adults. Biological Psychiatry 81(2), pp. 154-161. (10.1016/j.biopsych.2016.02.033)
- Morgan, A. et al. 2017. The correlation between inflammatory biomarkers and polygenic risk score in Alzheimer's Disease. Journal of Alzheimer's Disease 56(1), pp. 25-36. (10.3233/JAD-160889)
2016
- Jakobsdottir, J. et al. 2016. Rare functional variant in TM2D3 is associated with late-onset Alzheimer's disease. PLoS Genetics 12(10), article number: e1006327. (10.1371/journal.pgen.1006327)
- Thomas, R. S., Henson, A., Gerrish, A., Jones, L., Williams, J. and Kidd, E. J. 2016. Decreasing the expression of PICALM reduces endocytosis and the activity of β-secretase: implications for Alzheimer's disease. BMC Neuroscience 17, article number: 50. (10.1186/s12868-016-0288-1)
- Prins, B. P. et al. 2016. Investigating the causal relationship of C-reactive protein with 32 complex somatic and psychiatric outcomes: a large-scale cross-consortium Mendelian randomization study. PLOS Medicine 13(6), article number: e1001976. (10.1371/journal.pmed.1001976)
- Traylor, M., Adib-Samii, P., Harold, D., Dichgans, M., Williams, J., Lewis, C. M. and Markus, H. S. 2016. Shared genetic contribution to ischemic stroke and Alzheimer's disease. Annals of Neurology 79(5), pp. 739-747. (10.1002/ana.24621)
- Sims, R. and Williams, J. 2016. Defining the genetic architecture of Alzheimer's Disease: where next. Neurodegenerative Diseases 16(1-2) (10.1159/000440841)
- Jun, G. et al. 2016. A novel Alzheimer disease locus located near the gene encoding tau protein. Molecular Psychiatry 21, pp. 108-117. (10.1038/mp.2015.23)
2015
- Escott-Price, V. et al. 2015. Common polygenic variation enhances risk prediction for Alzheimer's disease. Brain 138(12), pp. 3673-3684. (10.1093/brain/awv268)
- Lancaster, T. M. et al. 2015. Alzheimer's disease risk variant in CLU is associated with neural inefficiency in healthy individuals. Alzheimer's and Dementia 11(10), pp. 1144-1152. (10.1016/j.jalz.2014.10.012)
- Jones, L. et al. 2015. Convergent genetic and expression data implicate immunity in Alzheimer's disease. Alzheimer's and Dementia 11(6), pp. 658-671. (10.1016/j.jalz.2014.05.1757)
- Østergaard, S. D. et al. 2015. Associations between potentially modifiable risk factors and Alzheimer disease: A mendelian randomization study. PLOS MEDICINE 12(6), pp. e1001841., article number: e1001841. (10.1371/journal.pmed.1001841)
- Desikan, R. S. et al. 2015. Polygenic overlap between C-reactive protein, plasma lipids, and Alzheimer Disease. Circulation 131(23), pp. 2061-2069. (10.1161/CIRCULATIONAHA.115.015489)
- Hosp, F. et al. 2015. Quantitative interaction proteomics of neurodegenerative disease proteins. Cell Reports 11(7), pp. 1134-46. (10.1016/j.celrep.2015.04.030)
- Fan, Z., Harold, D., Pasqualetti, G., Williams, J., Brooks, D. J. and Edison, P. 2015. Can studies of neuroinflammation in a TSPO genetic subgroup (HAB or MAB) be applied to the entire AD cohort?. Journal of Nuclear Medicine 56(5), pp. 707-713. (10.2967/jnumed.114.149443)
- Desikan, R. S. et al. 2015. Genetic overlap between Alzheimer's Disease and Parkinson's Disease at the MAPT locus. Molecular Psychiatry 20(12), pp. 1588-1595. (10.1038/mp.2015.6)
2014
- Proitsi, P. et al. 2014. Alleles that increase risk for type 2 diabetes mellitus are not associated with increased risk for Alzheimer's disease. Neurobiology of Aging 35(12), article number: 2883.e3. (10.1016/j.neurobiolaging.2014.07.023)
- Gross, A. L. et al. 2014. Calibrating longitudinal cognition in Alzheimer's disease across diverse test batteries and datasets. Neuroepidemiology 43(3-4), pp. 194-205. (10.1159/000367970)
- Gusareva, E. S. et al. 2014. Genome-wide association interaction analysis for Alzheimer's disease. Neurobiology of Aging 35(11), pp. 2436-2443. (10.1016/j.neurobiolaging.2014.05.014)
- Proitsi, P. et al. 2014. Genetic predisposition to increased blood cholesterol and triglyceride lipid levels and risk of Alzheimer Disease: a Mendelian Randomization Analysis. Public Library of Science Medicine 11(9), article number: e1001713. (10.1371/journal.pmed.1001713)
- Khabirova, E. et al. 2014. The TRiC/CCT chaperone is implicated in Alzheimer's disease based on patient GWAS and an RNAi screen in Aβ-expressing Caenorhabditis elegans. PLoS ONE 9(7), article number: e102985. (10.1371/journal.pone.0102985)
- Escott-Price, V. et al. 2014. Gene-wide analysis detects two new susceptibility genes for Alzheimer's Disease. PLoS ONE 9(6), article number: e94661. (10.1371/journal.pone.0094661)
- Mok, K. Y. et al. 2014. Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of Aging 35(6), pp. 1513.e1-5. (10.1016/j.neurobiolaging.2013.12.022)
- Benitez, B. A. et al. 2014. Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging 35(6), pp. 1510.e19-26. (10.1016/j.neurobiolaging.2013.12.010)
- Hinney, A. et al. 2014. Genetic variation at theCELF1 (CUGBP, elav-like family member 1 gene) locus is genome-wide associated with Alzheimer's disease and obesity. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 165(4), pp. 283-293. (10.1002/ajmg.b.32234)
- Fogh, I. et al. 2014. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Human Molecular Genetics 23(8), pp. 2220-2231. (10.1093/hmg/ddt587)
- Ruiz, A. et al. 2014. Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene. Translational Psychiatry 4, article number: e358. (10.1038/tp.2014.2)
2013
- Lambert, J. et al. 2013. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease [Letter]. Nature Genetics 45(12), pp. 1452-1458. (10.1038/ng.2802)
- Williams, P. A. et al. 2013. Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease. Neurobiology of Aging 34(7), pp. 1799-1806. (10.1016/j.neurobiolaging.2013.01.006)
- Landerl, K. et al. 2013. Predictors of developmental dyslexia in European orthographies with varying complexity. Journal of Child Psychology and Psychiatry 54(6), pp. 686-694. (10.1111/jcpp.12029)
- Zou, F. et al. 2013. Linking protective GAB2 variants, increased cortical GAB2 expression and decreased Alzheimer's Disease pathology. PLoS ONE 8(5), article number: e64802. (10.1371/journal.pone.0064802)
- Cruchaga, C. et al. 2013. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron 78(2), pp. 256-268. (10.1016/j.neuron.2013.02.026)
- Lambert, J. C. et al. 2013. Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease [Correction]. Molecular Psychiatry 18(4), pp. 521. (10.1038/mp.2012.75)
- Chapman, J. et al. 2013. A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk. Human Molecular Genetics 22(4), pp. 816-824. (10.1093/hmg/dds476)
- Lee, S. et al. 2013. Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis. Human Molecular Genetics 22(4), pp. 832-841. (10.1093/hmg/dds491)
- Escott-Price, V. et al. 2013. Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. JAMA Neurology 70(10), pp. 1268-1276. (10.1001/jamaneurol.2013.448)
- Guerreiro, R. et al. 2013. TREM2Variants in Alzheimer's disease. New England Journal of Medicine 368(2), pp. 117-127. (10.1056/NEJMoa1211851)
- Brayne, C. et al. 2013. From molecule to clinic and community for neurodegeneration: research to bridge translational gaps. Journal of Alzheimer's Disease 33(Supp 1), pp. S385-S396. (10.3233/JAD-2012-129006)
- Jones, E. L., Mok, K., Hanney, M., Harold, D., Sims, R., Williams, J. and Ballard, C. 2013. Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome. Neurobiology of Aging 34(10), pp. 2441. (10.1016/j.neurobiolaging.2013.03.018)
- Chapuis, J. et al. 2013. Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology [Article]. Molecular Psychiatry 18(11), pp. 1225-1234. (10.1038/mp.2013.1)
2012
- Hollingworth, P. et al. 2012. Genome-wide association study of Alzheimer's disease with psychotic symptoms. Molecular Psychiatry 17(12), pp. 1316-1327. (10.1038/mp.2011.125)
- Hamilton, G. et al. 2012. The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159B(6), pp. 696-709. (10.1002/ajmg.b.32073)
- Shi, H. et al. 2012. Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS). Neurobiology of Aging 33(8), article number: 1849.e5. (10.1016/j.neurobiolaging.2012.02.014)
- Hamilton, G. et al. 2012. Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus. Neurobiology of Aging 33(8), article number: 1848.e1. (10.1016/j.neurobiolaging.2012.02.005)
- Proitsi, P. et al. 2012. Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation [Abstract]. Neurobiology of Aging 33(8), pp. 1843.e9-1843.e17. (10.1016/j.neurobiolaging.2011.12.036)
- Hudson, G. et al. 2012. No consistent evidence for association between mtDNA variants and Alzheimer disease. Neurology 78(14), pp. 1038-1042. (10.1212/WNL.0b013e31824e8f1d)
- Lambert, J. C. et al. 2012. Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. Molecular Psychiatry 18, pp. 461-470. (10.1038/mp.2012.14)
- Inkster, B. et al. 2012. Genetic variation in GOLM1 and prefrontal cortical volume in Alzheimer's disease. Neurobiology of Aging 33(3), pp. 457-465. (10.1016/j.neurobiolaging.2010.04.018)
- Gerrish, A. et al. 2012. The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's Disease. Journal of Alzheimer's Disease 28(2), pp. 377-387. (10.3233/JAD-2011-110824)
- Proitsi, P. et al. 2012. Association of serotonin and dopamine gene pathways with behavioral subphenotypes in dementia. Neurobiology of Aging 33(4), pp. 791-803. (10.1016/j.neurobiolaging.2010.06.011)
- Hood, K. et al. 2012. Mode of data elicitation, acquisition and response to surveys: a systematic review. Health Technology Assessment 16(27) (10.3310/hta16270)
- Baig, S., Palmer, L. E., Owen, M. J., Williams, J., Kehoe, P. G. and Love, S. 2012. Clusterin mRNA and protein in Alzheimer's disease. Journal of Alzheimer's Disease 28(2), pp. 337-344. (10.3233/JAD-2011-110473)
2011
- Williams, J. 2011. Interview: Julie Williams speaks to Personalized Medicine. Personalized Medicine 8(4), pp. 393-395. (10.2217/pme.11.41)
- Hollingworth, P. et al. 2011. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics 43(5), pp. 429-435. (10.1038/ng.803)
- Schuermann, B. et al. 2011. Association of the Alzheimer's disease clusterin risk allele with plasma clusterin concentration. Journal of Alzheimers Disease 25(3), pp. 421-424.
- Belbin, O. et al. 2011. A multi-center study of ACE and the risk of late-onset Alzheimer's disease. Journal of Alzheimer's Disease 24(3), pp. 587-597. (10.3233/JAD-2011-101914)
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2004
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2002
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2000
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1999
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1998
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1997
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1995
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1994
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1993
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- Li, Y. et al. 2006. DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. Human Molecular Genetics 15(17), pp. 2560-2568. (10.1093/hmg/ddl178)
- Williams, J. and O'Donovan, M. C. 2006. The genetics of developmental dyslexia. European Journal of Human Genetics 14(6), pp. 681-89. (10.1038/sj.ejhg.5201575)
- Hamilton, G. et al. 2006. Polymorphisms in the phosphate and tensin homolog gene are not associated with late-onset Alzheimer's disease. Neuroscience Letters 401(1-2), pp. 77-80. (10.1016/j.neulet.2006.03.021)
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- Grupe, A. et al. 2006. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. The American Journal of Human Genetics 78(1), pp. 78-88.
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- Cope, N. A. et al. 2005. Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. American Journal of Human Genetics 76(4), pp. 581-591. (10.1086/429131)
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- Cope, N. A. et al. 2005. No support for association between dyslexia susceptibility 1 candidate 1 and developmental dyslexia. Molecular Psychiatry 10(3), pp. 237-238. (10.1038/sj.mp.4001596)
- Cook, L. J. et al. 2005. Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 132B(1), pp. 5-8. (10.1002/ajmg.b.30068)
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- Bray, N. J., Jehu, L., Escott-Price, V., Buckland, P. R., Williams, J., Owen, M. J. and O'Donovan, M. C. 2004. Allelic expression of APOE in brain [Conference Abstract]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 130B(1), pp. 61-61.
- Bray, N. J., Jehu, L., Escott-Price, V., Buckland, P. R., Owen, M. J., Williams, J. and O'Donovan, M. C. 2004. P4-101 Allelic expression of APOE in brain [Conference Abstract]. Neurobiology of Aging 25, pp. S503-S503. (10.1016/S0197-4580(04)81659-2)
- Cook, L. J. et al. 2004. Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's disease. Neuroscience Letters 358(2), pp. 142-146. (10.1016/j.neulet.2004.01.016)
- Myers, A. J. et al. 2004. Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD. American Journal of Medical Genetics 124B(1), pp. 29-37. (10.1002/ajmg.b.20036)
- Bray, N. J. et al. 2004. Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. Human Molecular Genetics 13(22), pp. 2885-2892. (10.1093/hmg/ddh299)
- Busby, V. et al. 2004. Alpha-T-Catenin Is Expressed in Human Brain and Interacts With the Wnt Signaling Pathway But Is Not Responsible for Linkage to Chromosome 10 in Alzheimer's Disease. Neuromolecular Medicine 5(2), pp. 133-146. (10.1385/NMM:5:2:133)
- Harold, D. et al. 2003. Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease. Human Genetics 113(3), pp. 258-267. (10.1007/s00439-003-0960-2)
- Rice, F., Abraham, R., Rudrasingham, V., Owen, M. J. and Williams, J. 2003. Memory for new information as a cognitive marker of liability to Alzheimer's disease in a high risk group: a research note. International Journal of Geriatric Psychiatry 18(2), pp. 155-160. (10.1002/gps.808)
- Turic, D. et al. 2003. Linkage disequilibrium mapping provides further evidence of a gene for reading disability on chromosome 6p21.3-22. Molecular Psychiatry 8(2), pp. 176-185. (10.1038/sj.mp.4001216)
- Heron, J., Jones, I. R., Williams, J., Owen, M. J., Craddock, N. J. and Jones, L. 2003. Self-reported schizotypy and bipolar disorder: demonstration of a lack of specificity of the Kings Schizotypy Questionnaire. Schizophrenia Research 65(2-3), pp. 153-158. (10.1016/S0920-9964(03)00004-5)
- Walter, S. et al. 2002. The retained ability to display affection and emotion in Alzheimer's disease. Neurobiology of Aging 23(1), pp. S44-S45.
- Archer, N. et al. 2002. Delusions in dementia - An investigation into their persistence and predictive value. Neurobiology of Aging 23(1), pp. S156-S156.
- Myers, A. et al. 2002. Full genome screen for Alzheimer disease: Stage II analysis. American Journal Of Medical Genetics Part A 114(2), pp. 235-244. (10.1002/ajmg.10183)
- Abraham, R. et al. 2001. Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease. Human Genetics 109(6), pp. 646-652. (10.1007/s00439-001-0614-1)
- Jones, L. A., Cardno, A. G., Sanders, R. D., Owen, M. J. and Williams, J. 2001. Sustained and selective attention as measures of genetic liability to schizophrenia. Schizophrenia Research 48(2-3), pp. 263-267.
- 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.
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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.
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- 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)
Gwefannau
- Crawford, K. et al. 2022. Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways. [Online]. medRxiv: Cold Spring Harbor Laboratory. (10.1101/2022.06.29.22276952) Available at: https://doi.org/10.1101/2022.06.29.22276952
- Chandler, H. L., Wise, R. G., Linden, D. E., Williams, J., Murphy, K. and Lancaster, T. M. 2021. Alzheimer's genetic risk effects on cerebral blood flow are spatially consistent and proximal to gene expression across the lifespan. [Online]. bioRxiv. (10.1101/2020.12.31.424949v1) Available at: https://doi.org/10.1101/2020.12.31.424949
- Holstege, H. et al. 2020. Exome sequencing identifies novel AD-associated genes. [Online]. medRxiv. (10.1101/2020.07.22.20159251) Available at: http://dx.doi.org/10.1101/2020.07.22.20159251
Ymchwil
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.
Bywgraffiad
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