Research
I am a chronic disease and genetic epidemiologist with an interest in identifying novel causal pathways and new therapeutic targets for reducing risk of chronic diseases. My research particularly focuses on identifying improved ways to predict, prevent, and treat stroke and dementia. Since 2018 I have been working in the Stroke Research Group in the Department of Clinical Neurosciences, and I am currently a Research Fellow funded by the Alzheimer’s Society. My programme of research has two main aims:
- Using multi-omics biomarkers to enhance prediction of vascular dementia and the vascular component of other neurodegenerative diseases, and
- Investigating the mechanistic pathways underlying vascular dementia and other neurodegenerative diseases to prioritise therapeutic targets.
Publications
Key publications:
Selected publications 2016-2025:
2025
- Ng WH, Aghakishiyeva E, Markus HS, Harshfield EL. (2025) Using metabolomics to identify novel risk factors for lacunar stroke and vascular cognitive impairment. medRxiv, 2025.03.11.25323678.
- Zihan S, Harshfield EL, de Leeuw F-E, Burgess S, Butterworth AS, Riksen NP, Mallad Z & Markus HS. (2025). Proteins involved in endothelial function and inflammation are implicated in cerebral small vessel disease. Stroke, 56(3):692-704.
2024
- Koohi F, Harshfield EL, Gill D, Ge W, Burgess S & Markus HS. (2024). Optimising treatment of cardiovascular risk factors in cerebral small vessel disease using genetics. Brain (in press).
- Brown RB, Tozer DJ, Loubiere L, Harshfield EL, Hong YT, Fryer TD, Williams GB, Graves MJ, Aigbirhio FI, O’Brien JT & Markus HS. (2024). MINocyclinE to Reduce inflammation and blood-brain barrier leakage in small Vessel diseAse (MINERVA): a phase II, randomised, double-blind, placebo-controlled experimental medicine trial. Alzheimer’s & Dementia, 20(6):3852-3863.
- Kaufmann J, Harshfield EL, Gensicke H, Wegener S, Michel P, Kägi G, Nedeltchev K, Kellert L, Rosenbaum S, Nolte CH, Christensen H, Arnold M, Lyrer P, Levi C, Bath PM, Engelter ST, Traenka C, Markus HS & CADISS and TREAT-CAD Investigators. (2024). Antithrombotic treatment for cervical artery dissection: a systematic review and individual patient data meta-analysis. JAMA Neurol, 81(6):630-637.
- Koohi F, Harshfield EL, Shatunov A & Markus HS. (2024). Does thrombosis play a causal role in lacunar stroke and cerebral small vessel disease? Stroke, 55(4):934-942.
- Guo C, Harshfield EL & Markus HS. (2024). Sleep characteristics and risk of stroke and dementia: an observational and Mendelian randomization study. Neurology, 102(5):e209141.
2023
- Harshfield EL & Markus HS. (2023). Association of baseline metabolomic profiles with incident stroke and dementia and with imaging markers of cerebral small vessel disease. Neurology, 101(5):e489-e501.
- Winchester L, Harshfield EL, Shi L, Badhwar AP, Al Khleifat A, Clarke N, Dehsarvi A, Lengyel I, Lourida I, Madan CR, Marzi S, Proitsi P, Rajamani A, Rittman T, Silajdzic E, Tamburin S, Ranson J & Llewellyn DJ. (2023). Artificial intelligence for biomarker discovery in Alzheimer’s disease and dementia. Alzheimer’s & Dementia, 19(12):5860-5871.
- LLyall DM, Kormilitzin A, Lancaster C, Sousa J, Petermann-Rocha F, Buckley C, Harshfield EL, Iveson MH, Madan CR, McArdle R, Newby D, Orgeta V, Tang E, Tamburin S, Thakur LS, Ranson JM & Llewellyn DJ. (2023). Artificial intelligence for dementia: applied models and digital health. Alzheimer’s & Dementia, 19(12):5872-5884.
- Bettencourt C, Skene N, Bandres-Ciga S, Anderson E, Winchester L, Foote I, Schwartzentruber J, Botía JA, Nalls M, Singleton A, Schilder B, Humphrey J, Marzi SJ, Toomey C, Al Khleifat A, Harshfield EL, Garfield V, Sandor C, Keat S, Tamburin S, Frigerio CS, Lourida I, Deep Dementia Phenotyping (DEMON) Network, Ranson JM & Llewellyn DJ. (2023). Artificial intelligence for dementia genetics and omics. Alzheimer’s & Dementia, 19(12):5905-5921.
- Koohi F, Harshfield EL, Markus HS. (2023). Contribution of conventional cardiovascular risk factors to brain white matter hyperintensities. J Am Heart Assoc, 12(14):e030676.
- Li R, Harshfield EL, Bell S, Burkhart M, Tuladhar AM, Hilal S, Tozer DJ, Chappell FM, Makin SDJ, Lo JW, Wardlaw JM, de Leeuw F-E, Chen C, Kourtzi Z, Markus HS. (2023). Predicting incident dementia in cerebral small vessel disease: comparison of machine learning and traditional statistical models. Cereb Circ Cogn Behav, 5:100179.
2022
- Cho BPH, Harshfield EL, Al-Thani M, Tozer DJ, Bell S & Markus HS. (2022). Association of vascular risk factors and genetic factors with penetrance of variants causing monogenic stroke. JAMA Neurol, 79(12):1303-1311.
- Harshfield EL, Sands CJ, Tuladhar AM, de Leeuw F-E, Lewis MR & Markus HS. (2022). Metabolomic profiling in small vessel disease identifies multiple associations with disease severity. Brain, 145(7):2461-2471.
- Pflanz C-P, Tozer DJ, Harshfield EL, Tay J, Farooqi S & Markus HS. (2022). Central obesity is selectively associated with cerebral gray matter atrophy in 15,634 subjects in the UK Biobank. Int J Obesity, 46(5):1059-1067.
2021
- Harshfield EL, Fauman EB, Stacey D, Paul DS, Ziemek D, Ong RMY, Danesh J, Butterworth AS, [18 other co-authors], Saleheen D, Wood AM, Griffin JL & Koulman A. (2021). Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci. BMC Med, 19(1):232.
- Cho BPH, Nannoni S, Harshfield EL, Tozer DJ, Gräf S, Bell S & Markus HS. (2021). NOTCH3 variants are common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200,000 participants. J Neurol Neurosurg Psychiat, 92(7):694-701.
- Harshfield EL, Georgakis MK, Malik R, Dichgans M & Markus HS. (2021). Modifiable lifestyle factors and risk of stroke: a Mendelian randomization analysis. Stroke, 52(3):931-936.
- Georgakis MK, Harshfield EL, Malik R, Franceschini N, Langenberg C, Wareham NJ, Markus HS & Dichgans M. (2021). Diabetes mellitus, glycemic traits, and cerebrovascular disease: a Mendelian randomization study. Neurology, 96(13):1-11.
2020
- Harshfield EL, Pennells L, Schwartz JA, Willeit P, Kaptoge S, Bell S, Shaffer JA, Bolton T, Spackman S, [18 other co-authors], Wood AM, Danesh J, Di Angelantonio E & Davidson KW, for the Emerging Risk Factors Collaboration. (2020). Association between depressive symptoms and incident cardiovascular diseases. JAMA, 324(23):2396-2405.
- Bell S, Gibson J, Harshfield EL & Markus HS. (2020). Is periodontitis a risk factor for ischaemic stroke, coronary artery disease and subclinical atherosclerosis? A Mendelian randomisation study. Atherosclerosis, 313(2020):111-117.
- Harshfield EL, Sims MC, Traylor M, Ouwehand WH & Markus HS. (2020). The role of haematological traits in risk of ischaemic stroke and its subtypes. Brain, 143(1):210-221.
2019
- Markus HS, Harshfield EL, Compter A, Küker W, Kappelle LJ, Clifton A, van der Worp HB, Rothwell P & Algra A, on behalf of the Vertebral Stenosis Trialist’s Collaboration. (2019). Stenting for symptomatic vertebral artery stenosis: a preplanned pooled individual patient data analysis. Lancet Neurol, 18(7):666-673.
- Harshfield EL, Koulman A, [21 other co-authors], Danesh J, Saleheen D, Butterworth AS, Wood AM & Griffin JL. (2019). An unbiased lipid phenotyping approach to study the genetic determinants of lipids and their association with coronary heart disease risk factors. J Proteome Res, 18(6):2397-2410.
- Stacey D, Fauman EB, Ziemek D, Sun BB, Harshfield EL, Wood AM, Butterworth AS, Suhre K & Paul DS. (2019). ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci. Nucleic Acids Res, 47(1):e3.
2016-2018
- van der Laan SW, Harshfield EL, Hemerich D, Stacey D, Wood AM & Asselbergs FW. (2018). From lipid locus to drug target through human genomics. Cardiovasc Res, 114(9):1258-1270.
- Burgess S & Harshfield E. (2016). Mendelian randomization to assess causal effects of blood lipids on coronary heart disease: lessons from the past and applications to the future. Curr Opin Endocrin Diabetes, 23(2):124-130.
A comprehensive list of publications is available on the following sites:
