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Dr Sarah Langley
- Available for postgraduate supervision
Teams and roles for Sarah Langley
Lecturer
Neuroscience
Overview
I am an experienced computational biologist whose research centres on analysing large-scale omics data to investigate the role of RNA expression, RNA processing and integrative omics within health and disease. My work sits within the areas of computational biology, molecular biology and data science, applying quantitative approaches to address biologically and clinically relevant questions. Within this primary focus of my work, the broader impact of my research is on investigating the role of RNA and RNA processing in disease and the focus of my teaching is on the skills and tools that I use to conduct my research (statistics, computer programming, high throughput omics analyses).
To investigate disease mechanisms and dysregulated molecular processes, we utilize large scale omics datasets – primarily RNA-sequencing, DNA-sequencing and mass spectrometry proteomics – coupled with cutting edge analytical techniques. By integrating these different omics datasets in systems-level approach, we aim to interrogate the role that molecular processes play in the development and progression of disease.
We also develop computational methodologies and pipelines for elucidating insight into large biological datasets. The selection of these methodologies for development is determined by the biological questions of interest and our current ability to answer them. This involves a combination of statistics, programming, machine learning and the use of high-performance computing resources.
Publication
2026
- Utami, K. H. et al., 2026. Convergent and divergent molecular pathways in FMR1-, TSC2- and FMR1/TSC2 knockout neurons. Molecular Neurobiology 63 883. (10.1007/s12035-026-06166-3)
- Utami, K. H. et al., 2026. TSC2 GAP domain V1646Cfs*7 variant alters protein stability and interaction networks in tuberous sclerosis complex. Neurology Genetics 12 (2) e200351. (10.1212/nxg.0000000000200351)
- Bardile, C. F. et al., 2026. Alterations in both caliber and myelination of callosal axons elicited by ubiquitous genetic ablation of c-Jun amino-terminal kinase 3 (JNK3). Journal of Neurochemistry 170 (1) e70356. (10.1111/jnc.70356)
2025
- Wang, W. et al., 2025. Impact of polymorphisms on gene expression and splicing in response to exercise and diet-induced weight loss in human skeletal muscle tissues. Cell Genomics 5 (9) 100951. (10.1016/j.xgen.2025.100951)
- Wazny, V. K. et al., 2025. Chronic cerebral hypoperfusion induces venous dysfunction via EPAS1 regulation in mice. Nature Communications 16 6302. (10.1038/s41467-025-61614-3)
- Lai, K. O. et al., 2025. Age-dependent regulation of hippocampal inflammation by the mitochondrial translocator protein in mice. Aging Cell 24 (6) e70039. (10.1111/acel.70039)
- Leu, C. et al., 2025. Genome-wide association meta-analyses of drug-resistant epilepsy. EBioMedicine 115 105675. (10.1016/j.ebiom.2025.105675)
- Yadav, M. et al., 2025. PRMT5 promotes full-length HTT expression by repressing multiple proximal intronic polyadenylation sites. Nucleic Acids Research 53 (8) gkaf347. (10.1093/nar/gkaf347)
2023
- Utami, K. H. et al., 2023. Dysregulated COMT expression in fragile X syndrome. NeuroMolecular Medicine 25 (4), pp.644-649. (10.1007/s12017-023-08754-1)
- Zalivina, I. et al., 2023. Inhibition of miR-199a-3p in a murine hypertrophic cardiomyopathy (HCM) model attenuates fibrotic remodeling. Journal of Molecular and Cellular Cardiology Plus 6 100056. (10.1016/j.jmccpl.2023.100056)
- Tano, V. et al., 2023. Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington's disease. EBioMedicine 94 104720. (10.1016/j.ebiom.2023.104720)
- Fairley, L. H. et al., 2023. Mitochondrial control of microglial phagocytosis by the translocator protein and hexokinase 2 in Alzheimer's disease. Proceedings of the National Academy of Sciences 120 (8) e2209177120. (10.1073/pnas.2209177120)
2022
- Tham, N. and Langley, S. R. 2022. Evaluating the robustness of connectivity methods to noise for in silico drug repurposing studies. Frontiers in Systems Biology 2 1050730. (10.3389/fsysb.2022.1050730)
- Ziaei, A. et al., 2022. Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult. Brain Pathology 32 (5) e13064. (10.1111/bpa.13064)
- Bao, X. et al., 2022. Molecular subgroups of intrahepatic cholangiocarcinoma discovered by single-cell RNA sequencing–assisted multiomics analysis. Cancer Immunology Research 10 (7), pp.811–828. (10.1158/2326-6066.CIR-21-1101)
- Chothani, S. P. et al., 2022. A high-resolution map of human RNA translation. Molecular Cell 82 (15), pp.2885-2899. (10.1016/j.molcel.2022.06.023)
2021
- Basnakova, A. et al., 2021. The habenula clock influences response to a stressor. Neurobiology of Stress 15 100403. (10.1016/j.ynstr.2021.100403)
2020
- Trott, J. et al., 2020. Mitchell-Riley syndrome iPSC exhibit reduced pancreatic endoderm differentiation due to an RFX6 mutation. Development 147 (21)(10.1242/dev.194878)
2019
- Zhang, J. et al., 2019. Expanded huntingtin CAG repeats disrupt the balance between neural progenitor expansion and differentiation in human cerebral organoids. [Online].bioRXiv. (10.1101/850586)Available at: https://doi.org/10.1101/850586.
- Laaniste, L. et al., 2019. Integrated systems-genetic analyses reveal a network target for delaying glioma progression.. Annals of Clinical and Translational Neurology 6 (9), pp.1616-1638. (10.1002/acn3.50850)
- Chothani, S. et al., 2019. Widespread translational control of fibrosis in the human heart by RNA-binding proteins.. Circulation 140 (11), pp.937-951. (10.1161/CIRCULATIONAHA.119.039596)
- Bardile, C. F. et al., 2019. Intrinsic mutant HTT-mediated defects in oligodendroglia cause myelination deficits and behavioral abnormalities in Huntington disease. Proceedings of the National Academy of Sciences of the United States of America 116 (19), pp.9622-9627. (10.1073/pnas.1818042116)
- Tan, A. L. M. et al., 2019. Ethnicity-specific skeletal muscle transcriptional signatures and their relevance to insulin resistance in Singapore.. The Journal of Clinical Endocrinology & Metabolism 104 (2), pp.465-486. (10.1210/jc.2018-00309)
- Ooi, J. et al., 2019. Unbiased profiling of Isogenic Huntington Disease hPSC-Derived CNS and peripheral cells reveals strong cell-type specificity of CAG length effects. Cell Reports 26 (9), pp.2494-2508. (10.1016/j.celrep.2019.02.008)
2018
- Barwari, T. et al., 2018. Inhibition of profibrotic microRNA-21 affects platelets and their releasate.. JCI Insight 3 (21) e123335. (10.1172/jci.insight.123335)
- Chothani, S. et al., 2018. Translational control of cardiac fibrosis. [Online].bioRXiv. (10.1101/451666)Available at: https://doi.org/10.1101/451666.
- May, P. et al., 2018. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.. The Lancet. Neurology 17 (8), pp.699-708. (10.1016/s1474-4422(18)30215-1)
- McCormack, M. et al., 2018. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.. Neurology 90 (4), pp.e332-e341. (10.1212/WNL.0000000000004853)
2017
- Berghuis, B. et al., 2017. Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy.. Epilepsia 58 (7), pp.1227-1233. (10.1111/epi.13777)
- Langley, S. R. et al. 2017. Extracellular matrix proteomics identifies molecular signature of symptomatic carotid plaques.. Journal of Clinical Investigation 127 (4), pp.1546–1560. (10.1172/JCI86924)
- Rackham, O. J. L. et al., 2017. A Bayesian approach for analysis of whole-genome Bisulfite sequencing data identifies disease-associated changes in DNA Methylation.. Genetics 205 (4), pp.1443–1458. (10.1534/genetics.116.195008)
- Kumar Srivastava, P. et al., 2017. Genome-wide analysis of differential RNA editing in epilepsy.. Genome Research 27 (3), pp.440-450. (10.1101/gr.210740.116)
- Rackham, O. J. L. et al., 2017. A Bayesian approach for analysis of whole-genome bisulphite sequencing data identifies disease-associated changes in DNA methylation. null (10.1101/041715)
2016
- Delahaye-Duriez, A. et al., 2016. Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.. Genome Biology 17 245. (10.1186/s13059-016-1097-7)
- Gomes, R. S. et al., 2016. "Young at heart": regenerative potential linked to immature cardiac phenotypes.. Journal of Molecular and Cellular Cardiology 92 , pp.105-108. (10.1016/j.yjmcc.2016.01.026)
- Johnson, M. R. et al., 2016. Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease.. Nature Neuroscience 19 , pp.223-232. (10.1038/nn.4205)
- Kaudewitz, D. et al., 2016. Association of MicroRNAs and YRNAs with platelet function.. Circulation Research 118 (3), pp.420-432. (10.1161/CIRCRESAHA.114.305663)
- Zampetaki, A. et al., 2016. Angiogenic microRNAs Linked to Incidence and Progression of Diabetic Retinopathy in Type 1 Diabetes.. Diabetes 65 (1), pp.216-227. (10.2337/db15-0389)
2015
- Langley, S. R. and Mayr, M. 2015. Comparative analysis of statistical methods used for detecting differential expression in label-free mass spectrometry proteomics.. Journal of Proteomics 129 , pp.83-92. (10.1016/j.jprot.2015.07.012)
- Roncon, P. et al., 2015. MicroRNA profiles in hippocampal granule cells and plasma of rats with pilocarpine-induced epilepsy--comparison with human epileptic samples.. Scientific Reports 5 14143. (10.1038/srep14143)
- Johnson, M. R. et al., 2015. Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus.. Nature Communications 6 6031. (10.1038/ncomms7031)
2014
- Johnson, M. D. et al., 2014. Genetic analysis of the cardiac methylome at single nucleotide resolution in a model of human cardiovascular disease.. Plos Genetics 10 (12) e1004813. (10.1371/journal.pgen.1004813)
- Cuello, F. et al., 2014. Redox state of pentraxin 3 as a novel biomarker for resolution of inflammation and survival in sepsis.. Molecular & cellular proteomics : MCP 13 (10), pp.2545-2557. (10.1074/mcp.M114.039446)
- Zampetaki, A. et al., 2014. Role of miR-195 in aortic aneurysmal disease.. Circulation Research 115 (10), pp.857-866. (10.1161/circresaha.115.304361)
- Goedeke, L. et al., 2014. Long-term therapeutic silencing of miR-33 increases circulating triglyceride levels and hepatic lipid accumulation in mice.. EMBO Molecular Medicine 6 (9), pp.1133-1141. (10.15252/emmm.201404046)
- Stegemann, C. et al., 2014. Lipidomics profiling and risk of cardiovascular disease in the prospective population-based Bruneck study.. Circulation Research 129 (18), pp.1821-1831. (10.1161/circulationaha.113.002500)
- Beyer, C. et al., 2014. Signature of circulating microRNAs in osteoarthritis.. Annals of the Rheumatic Diseases 74 (3)(10.1136/annrheumdis-2013-204698)
2013
- Abonnenc, M. et al., 2013. Extracellular matrix secretion by cardiac fibroblasts: role of microRNA-29b and microRNA-30c.. Circulation Research 113 (10), pp.1138-1147. (10.1161/circresaha.113.302400)
- Langley, S. R. et al. 2013. Systems-level approaches reveal conservation of trans-regulated genes in the rat and genetic determinants of blood pressure in humans.. Cardiovascular Research 97 (4), pp.653-665. (10.1093/cvr/cvs329)
- Langley, S. R. et al. 2013. Proteomics: from single molecules to biological pathways.. Cardiovascular Research 97 (4), pp.612-622. (10.1093/cvr/cvs346)
- Stegemann, C. et al., 2013. Proteomic identification of matrix metalloproteinase substrates in the human vasculature.. Circulation. Cardiovascular genetics 6 (1), pp.106-117. (10.1161/circgenetics.112.964452)
- Yin, X. et al., 2013. Effects of perhexiline-induced fuel switch on the cardiac proteome and metabolome.. Journal of Molecular and Cellular Cardiology 55 , pp.27-30. (10.1016/j.yjmcc.2012.12.014)
- Willeit, P. et al., 2013. Circulating microRNAs as novel biomarkers for platelet activation.. Circulation Research 112 (4), pp.595-600. (10.1161/circresaha.111.300539)
2011
- Lin, B. et al., 2011. Determining signalling nodes for apoptosis by a genetic high-throughput screen. Plos One 6 (9) e25023. (10.1371/journal.pone.0025023)
- Bottolo, L. et al., 2011. ESS++: a C++ objected-oriented algorithm for Bayesian stochastic search model exploration.. Bioinformatics 27 (4), pp.587-588. (10.1093/bioinformatics/btq684)
2010
- Heinig, M. et al., 2010. A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.. Nature 467 , pp.460-464. (10.1038/nature09386)
- Petretto, E. et al., 2010. New insights into the genetic control of gene expression using a Bayesian multi-tissue approach.. PLoS Computational Biology (10.1371/journal.pcbi.1000737)
2008
- Stylianou, I. M. et al., 2008. Differences in DBA/1J and DBA/2J reveal lipid QTL genes.. Journal of Lipid Research 49 (11), pp.2402-2413. (10.1194/jlr.M800244-JLR200)
Articles
- Utami, K. H. et al., 2026. Convergent and divergent molecular pathways in FMR1-, TSC2- and FMR1/TSC2 knockout neurons. Molecular Neurobiology 63 883. (10.1007/s12035-026-06166-3)
- Utami, K. H. et al., 2026. TSC2 GAP domain V1646Cfs*7 variant alters protein stability and interaction networks in tuberous sclerosis complex. Neurology Genetics 12 (2) e200351. (10.1212/nxg.0000000000200351)
- Bardile, C. F. et al., 2026. Alterations in both caliber and myelination of callosal axons elicited by ubiquitous genetic ablation of c-Jun amino-terminal kinase 3 (JNK3). Journal of Neurochemistry 170 (1) e70356. (10.1111/jnc.70356)
- Wang, W. et al., 2025. Impact of polymorphisms on gene expression and splicing in response to exercise and diet-induced weight loss in human skeletal muscle tissues. Cell Genomics 5 (9) 100951. (10.1016/j.xgen.2025.100951)
- Wazny, V. K. et al., 2025. Chronic cerebral hypoperfusion induces venous dysfunction via EPAS1 regulation in mice. Nature Communications 16 6302. (10.1038/s41467-025-61614-3)
- Lai, K. O. et al., 2025. Age-dependent regulation of hippocampal inflammation by the mitochondrial translocator protein in mice. Aging Cell 24 (6) e70039. (10.1111/acel.70039)
- Leu, C. et al., 2025. Genome-wide association meta-analyses of drug-resistant epilepsy. EBioMedicine 115 105675. (10.1016/j.ebiom.2025.105675)
- Yadav, M. et al., 2025. PRMT5 promotes full-length HTT expression by repressing multiple proximal intronic polyadenylation sites. Nucleic Acids Research 53 (8) gkaf347. (10.1093/nar/gkaf347)
- Utami, K. H. et al., 2023. Dysregulated COMT expression in fragile X syndrome. NeuroMolecular Medicine 25 (4), pp.644-649. (10.1007/s12017-023-08754-1)
- Zalivina, I. et al., 2023. Inhibition of miR-199a-3p in a murine hypertrophic cardiomyopathy (HCM) model attenuates fibrotic remodeling. Journal of Molecular and Cellular Cardiology Plus 6 100056. (10.1016/j.jmccpl.2023.100056)
- Tano, V. et al., 2023. Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington's disease. EBioMedicine 94 104720. (10.1016/j.ebiom.2023.104720)
- Fairley, L. H. et al., 2023. Mitochondrial control of microglial phagocytosis by the translocator protein and hexokinase 2 in Alzheimer's disease. Proceedings of the National Academy of Sciences 120 (8) e2209177120. (10.1073/pnas.2209177120)
- Tham, N. and Langley, S. R. 2022. Evaluating the robustness of connectivity methods to noise for in silico drug repurposing studies. Frontiers in Systems Biology 2 1050730. (10.3389/fsysb.2022.1050730)
- Ziaei, A. et al., 2022. Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult. Brain Pathology 32 (5) e13064. (10.1111/bpa.13064)
- Bao, X. et al., 2022. Molecular subgroups of intrahepatic cholangiocarcinoma discovered by single-cell RNA sequencing–assisted multiomics analysis. Cancer Immunology Research 10 (7), pp.811–828. (10.1158/2326-6066.CIR-21-1101)
- Chothani, S. P. et al., 2022. A high-resolution map of human RNA translation. Molecular Cell 82 (15), pp.2885-2899. (10.1016/j.molcel.2022.06.023)
- Basnakova, A. et al., 2021. The habenula clock influences response to a stressor. Neurobiology of Stress 15 100403. (10.1016/j.ynstr.2021.100403)
- Trott, J. et al., 2020. Mitchell-Riley syndrome iPSC exhibit reduced pancreatic endoderm differentiation due to an RFX6 mutation. Development 147 (21)(10.1242/dev.194878)
- Laaniste, L. et al., 2019. Integrated systems-genetic analyses reveal a network target for delaying glioma progression.. Annals of Clinical and Translational Neurology 6 (9), pp.1616-1638. (10.1002/acn3.50850)
- Chothani, S. et al., 2019. Widespread translational control of fibrosis in the human heart by RNA-binding proteins.. Circulation 140 (11), pp.937-951. (10.1161/CIRCULATIONAHA.119.039596)
- Bardile, C. F. et al., 2019. Intrinsic mutant HTT-mediated defects in oligodendroglia cause myelination deficits and behavioral abnormalities in Huntington disease. Proceedings of the National Academy of Sciences of the United States of America 116 (19), pp.9622-9627. (10.1073/pnas.1818042116)
- Tan, A. L. M. et al., 2019. Ethnicity-specific skeletal muscle transcriptional signatures and their relevance to insulin resistance in Singapore.. The Journal of Clinical Endocrinology & Metabolism 104 (2), pp.465-486. (10.1210/jc.2018-00309)
- Ooi, J. et al., 2019. Unbiased profiling of Isogenic Huntington Disease hPSC-Derived CNS and peripheral cells reveals strong cell-type specificity of CAG length effects. Cell Reports 26 (9), pp.2494-2508. (10.1016/j.celrep.2019.02.008)
- Barwari, T. et al., 2018. Inhibition of profibrotic microRNA-21 affects platelets and their releasate.. JCI Insight 3 (21) e123335. (10.1172/jci.insight.123335)
- May, P. et al., 2018. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.. The Lancet. Neurology 17 (8), pp.699-708. (10.1016/s1474-4422(18)30215-1)
- McCormack, M. et al., 2018. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.. Neurology 90 (4), pp.e332-e341. (10.1212/WNL.0000000000004853)
- Berghuis, B. et al., 2017. Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy.. Epilepsia 58 (7), pp.1227-1233. (10.1111/epi.13777)
- Langley, S. R. et al. 2017. Extracellular matrix proteomics identifies molecular signature of symptomatic carotid plaques.. Journal of Clinical Investigation 127 (4), pp.1546–1560. (10.1172/JCI86924)
- Rackham, O. J. L. et al., 2017. A Bayesian approach for analysis of whole-genome Bisulfite sequencing data identifies disease-associated changes in DNA Methylation.. Genetics 205 (4), pp.1443–1458. (10.1534/genetics.116.195008)
- Kumar Srivastava, P. et al., 2017. Genome-wide analysis of differential RNA editing in epilepsy.. Genome Research 27 (3), pp.440-450. (10.1101/gr.210740.116)
- Rackham, O. J. L. et al., 2017. A Bayesian approach for analysis of whole-genome bisulphite sequencing data identifies disease-associated changes in DNA methylation. null (10.1101/041715)
- Delahaye-Duriez, A. et al., 2016. Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.. Genome Biology 17 245. (10.1186/s13059-016-1097-7)
- Gomes, R. S. et al., 2016. "Young at heart": regenerative potential linked to immature cardiac phenotypes.. Journal of Molecular and Cellular Cardiology 92 , pp.105-108. (10.1016/j.yjmcc.2016.01.026)
- Johnson, M. R. et al., 2016. Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease.. Nature Neuroscience 19 , pp.223-232. (10.1038/nn.4205)
- Kaudewitz, D. et al., 2016. Association of MicroRNAs and YRNAs with platelet function.. Circulation Research 118 (3), pp.420-432. (10.1161/CIRCRESAHA.114.305663)
- Zampetaki, A. et al., 2016. Angiogenic microRNAs Linked to Incidence and Progression of Diabetic Retinopathy in Type 1 Diabetes.. Diabetes 65 (1), pp.216-227. (10.2337/db15-0389)
- Langley, S. R. and Mayr, M. 2015. Comparative analysis of statistical methods used for detecting differential expression in label-free mass spectrometry proteomics.. Journal of Proteomics 129 , pp.83-92. (10.1016/j.jprot.2015.07.012)
- Roncon, P. et al., 2015. MicroRNA profiles in hippocampal granule cells and plasma of rats with pilocarpine-induced epilepsy--comparison with human epileptic samples.. Scientific Reports 5 14143. (10.1038/srep14143)
- Johnson, M. R. et al., 2015. Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus.. Nature Communications 6 6031. (10.1038/ncomms7031)
- Johnson, M. D. et al., 2014. Genetic analysis of the cardiac methylome at single nucleotide resolution in a model of human cardiovascular disease.. Plos Genetics 10 (12) e1004813. (10.1371/journal.pgen.1004813)
- Cuello, F. et al., 2014. Redox state of pentraxin 3 as a novel biomarker for resolution of inflammation and survival in sepsis.. Molecular & cellular proteomics : MCP 13 (10), pp.2545-2557. (10.1074/mcp.M114.039446)
- Zampetaki, A. et al., 2014. Role of miR-195 in aortic aneurysmal disease.. Circulation Research 115 (10), pp.857-866. (10.1161/circresaha.115.304361)
- Goedeke, L. et al., 2014. Long-term therapeutic silencing of miR-33 increases circulating triglyceride levels and hepatic lipid accumulation in mice.. EMBO Molecular Medicine 6 (9), pp.1133-1141. (10.15252/emmm.201404046)
- Stegemann, C. et al., 2014. Lipidomics profiling and risk of cardiovascular disease in the prospective population-based Bruneck study.. Circulation Research 129 (18), pp.1821-1831. (10.1161/circulationaha.113.002500)
- Beyer, C. et al., 2014. Signature of circulating microRNAs in osteoarthritis.. Annals of the Rheumatic Diseases 74 (3)(10.1136/annrheumdis-2013-204698)
- Abonnenc, M. et al., 2013. Extracellular matrix secretion by cardiac fibroblasts: role of microRNA-29b and microRNA-30c.. Circulation Research 113 (10), pp.1138-1147. (10.1161/circresaha.113.302400)
- Langley, S. R. et al. 2013. Systems-level approaches reveal conservation of trans-regulated genes in the rat and genetic determinants of blood pressure in humans.. Cardiovascular Research 97 (4), pp.653-665. (10.1093/cvr/cvs329)
- Langley, S. R. et al. 2013. Proteomics: from single molecules to biological pathways.. Cardiovascular Research 97 (4), pp.612-622. (10.1093/cvr/cvs346)
- Stegemann, C. et al., 2013. Proteomic identification of matrix metalloproteinase substrates in the human vasculature.. Circulation. Cardiovascular genetics 6 (1), pp.106-117. (10.1161/circgenetics.112.964452)
- Yin, X. et al., 2013. Effects of perhexiline-induced fuel switch on the cardiac proteome and metabolome.. Journal of Molecular and Cellular Cardiology 55 , pp.27-30. (10.1016/j.yjmcc.2012.12.014)
- Willeit, P. et al., 2013. Circulating microRNAs as novel biomarkers for platelet activation.. Circulation Research 112 (4), pp.595-600. (10.1161/circresaha.111.300539)
- Lin, B. et al., 2011. Determining signalling nodes for apoptosis by a genetic high-throughput screen. Plos One 6 (9) e25023. (10.1371/journal.pone.0025023)
- Bottolo, L. et al., 2011. ESS++: a C++ objected-oriented algorithm for Bayesian stochastic search model exploration.. Bioinformatics 27 (4), pp.587-588. (10.1093/bioinformatics/btq684)
- Heinig, M. et al., 2010. A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.. Nature 467 , pp.460-464. (10.1038/nature09386)
- Petretto, E. et al., 2010. New insights into the genetic control of gene expression using a Bayesian multi-tissue approach.. PLoS Computational Biology (10.1371/journal.pcbi.1000737)
- Stylianou, I. M. et al., 2008. Differences in DBA/1J and DBA/2J reveal lipid QTL genes.. Journal of Lipid Research 49 (11), pp.2402-2413. (10.1194/jlr.M800244-JLR200)
Websites
- Zhang, J. et al., 2019. Expanded huntingtin CAG repeats disrupt the balance between neural progenitor expansion and differentiation in human cerebral organoids. [Online].bioRXiv. (10.1101/850586)Available at: https://doi.org/10.1101/850586.
- Chothani, S. et al., 2018. Translational control of cardiac fibrosis. [Online].bioRXiv. (10.1101/451666)Available at: https://doi.org/10.1101/451666.
Research
Genomic and post-genomic technologies have given rise to large scale, multi-faceted datasets that are reliable and straightforward to generate. The challenge with the availability of such large quantities of data now lies with the analysis and interpretation to inform on biological and disease processes and derive data-driven hypotheses. To address this challenge, my work is focused on computationally integrating and analysing large scale ‘omics data to investigate molecular processes conribtuting to health and those dysregulated processes underlying disease.
My research uses computational biology and large-scale omics data to understand how RNA expression and RNA processing contributes to health, ageing and neurodegenerative disease. By integrating transcriptomic data with, genomic, epigenetic and proteomic data, I aim to identify moleuclar mechanisms that maintain health brain function and drive neurodegenerative disease progression.
Current and previous funding from: Motor Neuron Disease Association, Royal Society, Alzheimer's Research UK, British Academy, Welsh Government, Sinapore Ministry of Education, National Multiple Sclerosis Society
Teaching
I contribute to teaching across the undergraduate, postgraduate taught and postgraduate research programs withing the School of Biosciences and across the wider University.
Examples of modules I teach on:
BI1001 - Skills for Science
BI3252 - Omics Revolution
BIT002 - Research Techniques in Biosciences
BIT106 - Bioinformatics
I also supervise research projects as part of the Final Year Projects, Integrated Master's and Big Data Biology / Bioinformatics MScs
I am a Fellow of the Higher Education Acadamy (2025).
Biography
Education
- PhD, Statistical Genetics and Bioinformatics, Imperial College London, 2008 - 2012
- MSc, Bioinformatics and Theoretical Systems Biology, Imperial College London, 2007 - 2008
- BA, Physics and Mathematical Sciences, Colby College, 2003 - 2007
Previous Positions
- Nanyang Assistant Professor of Computational Biology, Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, 2019 - 2023
- Senior Research Fellow, Duke-NUS Medical School Singapore, 2015 - 2018
- Postdoctoral Research Associate, Imperial College London, 2014 - 2015
- Postdoctoral Research Associate, King's College London, 2012 - 2014
Professional memberships
I am a Fellow of the Higher Education Acadamy (2025).
Supervisions
I am interested in supervising PGR students in the areas of
- Computational Biology
- RNA Processing
- Trancriptional and post transcriptional dysregulation in disease
Current supervision
Jamie McDonald
Sophie Shaw