Staff Profile

PhD Vacancies - We are always pleased to receive informal enquires from prospective PhD students.

Please feel free to email me if you are interested - sarah.rice@ncl.ac.uk

Current Position

August 2021 - Present: Versus Arthritis Career Development Fellow, Newcastle University

May 2023 - Present: Associate Editor, Arthritis Research and Therapy (Springer)

August 2023 - Present: Cells, Genes, and Molecules Deputy Theme Lead

Areas of Expertise

Epigenetics

Genetics

Musculoskeletal Ageing

Previous positions

Oct 2015 - July 2021: Postdoctoral Research Associate, Newcastle University

Sept 2012 - Aug 2015: PhD Student, Newcastle University

Sept 2011 - Aug 2012: MRes in Medical Genetics, Newcastle University

July 2010 - Aug 2011: Community Pharmacist, Greater Manchester

July 2009 - June 2010: Pre-Registration Pharmacist, Manchester

Sept 2005 - June 2009: MPharm, University of Manchester

We are a collaborative laboratory based at Newcastle University, UK, working to understand the molecular genetic and epigenetic mechanisms underlying musculoskeletal ageing in health and disease. We aim to bridge the gap between the discovery of genetic loci involved in disease and the translation of novel therapies for patient benefit. Our laboratory focusses on the interplay between genetic variation and epigenetic state, and how this can impact gene expression at a molecular level, by altering transcription factor binding. More recently, we have begun to investigate how changes in the epigenome early in the lifecourse can predispose individuals to develop musculoskeletal diseases in older age.

For more information about our ongoing research and news from the lab, please visit: research.ncl.ac.uk/ricelab

Current Laboratory Supervision

Abby Brumwell (PhD Student)

Utsav Das (PhD Student)

Sarah Orr (PhD Student)

Jack Roberts (PDRA)

Caitlin Todd (RA)

• Articles

  • McDonnell E, Orr SE, Barter MJ, Rux D, Brumwell A, Wrobel N, Murphy L, Overman LM, Sorial AK, Young DA, Soul J, Rice SJ. The methylomic landscape of human articular cartilage development contains epigenetic signatures of osteoarthritis risk. American Journal of Human Genetics 2024, 111(12), 2756-2772.
  • Roberts JB, Boldvig OLG, Aubourg G, Kanchenapally ST, Deehan DJ, Rice SJ, Loughlin J. Specific isoforms of the ubiquitin ligase gene WWP2 are targets of osteoarthritis genetic risk via a differentially methylated DNA sequence. Arthritis Research & Therapy 2024, 26, 78.
  • Barter MJ, Turner DA, Rice SJ, Hines M, Lin H, Falconer AMD, McDonnell E, Soul J, Arques MDC, Europe-Finner GN, Rowan AD, Young DA, Wilkinson DJ. SERPINA3 is a marker of cartilage differentiation and is essential for the expression of extracellular matrix genes during early chondrogenesis. Matrix Biology 2024, 133, 33-42.
  • Kehayova YS, Wilkinson JM, Rice SJ, Loughlin J. Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues. Arthritis Research & Therapy 2023, 25, 83.
  • Kehayova YS, Wilkinson JM, Rice SJ, Loughlin J. Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk–Conferring Alleles on a Shared Target Gene, COLGALT2. Arthritis & Rheumatology 2023, 75(6), 910-922.
  • Rice SJ, Brumwell A, Falk J, Kehayova YS, Casement J, Parker E, Hofer IMJ, Shepherd C, Loughlin J. Genetic risk of osteoarthritis operates during human skeletogenesis. Human Molecular Genetics 2023, 32(13), 2124-2138.
  • Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K, Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grunewald I, Konrad M, Konig J, Schlevogt B, Sayer JA, Bergmann C. Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. American Journal of Human Genetics 2022, 109(5), 928-943.
  • Brumwell A, Aubourg G, Hussain J, Parker E, Deehan DJ, Rice SJ, Loughlin J. Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk. Arthritis Research & Therapy 2022, 24, 189.
  • Aubourg G, Rice SJ, Bruce-Wootton P, Loughlin J. Genetics of osteoarthritis. Osteoarthritis and Cartilage 2022, 30(5), 636-649.
  • Parker E, Hofer IMJ, Rice SJ, Earl L, Anjum SA, Deehan DJ, Loughlin J. Multi‐Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility. Arthritis and Rheumatology 2021, 73(1), 100-109.
  • Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Boltshauser E, Sayer JA. Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome. Brain Communications 2021, 3(3), fcab163.
  • Boer CG, Yau MS, Rice SJ, Coutinho de Almeida R, Cheung K, Styrkarsdottir U, Southam L, Broer L, Wilkinson JM, Uitterlinden AG, Zeggini E, Felson D, Loughlin J, Young M, Capellini TD, Meulenbelt I, van Meurs JBJ. Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene. Annals of the Rheumatic Diseases 2021, 80(3), 367-375.
  • Kehayova YS, Watson E, Wilkinson JM, Loughlin J, Rice SJ. Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis. Arthritis and Rheumatology 2021, 73(10), 1856-1865.
  • Rice SJ, Roberts JB, Tselepi M, Brumwell A, Falk J, Steven C, Loughlin J. Genetic and Epigenetic Fine-Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint. Arthritis and Rheumatology 2021, 73(10), 1866-1877.
  • Al Alawi I, Powell L, Rice SJ, Al Riyami MS, Al-Riyami M, Al Salmi I, Sayer JA. Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure. Frontiers in Genetics 2021, 12, 791495.
  • Sorial AK, Hofer IM, Tselepi M, Cheung K, Parker E, Deehan DJ, Rice SJ, Loughlin J. Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC. Osteoarthritis and Cartilage 2020, 28(11), 1448-1458.
  • Rice SJ, Beier F, Young DA, Loughlin J. Interplay between genetics and epigenetics in osteoarthritis. Nature Reviews Rheumatology 2020, 16, 268-281.
  • Rice SJ, Tselepi M, Sorial AK, Aubourg G, Shepherd C, Almarza D, Skelton AJ, Pangou I, Deehan DJ, Reynard L, Loughlin J. Prioritization of PLEC and GRINA as osteoarthritis risk genes through the identification and characterization of novel methylation quantitative trait loci. Arthritis and Rheumatology 2019, 71(8), 1285-1296.
  • Klein JC, Keith A, Rice SJ, Shepherd C, Agarwal V, Loughlin J, Shendure J. Functional testing of thousands of osteoarthritis-associated variants for regulatory activity. Nature Communications 2019, 10, 2434.
  • Rice SJ, Cheung K, Reynard LN, Loughlin J. Discovery and analysis of methylation quantitative trait loci (mQTLs) mapping to novel osteoarthritis genetic risk signals. Osteoarthritis and Cartilage 2019, 27(10), 1545-1556.
  • Willows J, Al Badi M, Richardson C, Al Sinani A, Edwards N, Rice SJ, Sayer JA. Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report . F1000Research 2019, 8, 666.
  • Al-Hamed MH, Alsahan N, Rice SJ, Edwards N, Nooreddeen E, Alotaibi M, Kurdi W, Alnemer M, Altaleb N, Ali W, Al-Numair N, Almejaish N, Sayer JA, Imtiaz F. Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families. Pediatric Nephrology 2019, 34, 1615-1623.
  • Rice SJ, Aubourg G, Sorial AK, Almarza D, Tselepi M, Deehan DJ, Reynard LN, Loughlin J. Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk. Human Molecular Genetics 2018, 27(19), 3464-3474.
  • Delpiano L, Thomas JJ, Yates AR, Rice SJ, Gray MA, Saint-Criq V. Esomeprazole Increases Airway Surface Liquid pH in Primary Cystic Fibrosis Epithelial Cells. Frontiers in Pharmacology 2018, 9, 1462.
  • Fearn A, Allison B, Rice SJ, Edwards N, Halbritter J, Bourgeois S, Pastor-Arroyo EM, Hildebrandt F, Tasic V, Wagner CA, Hernando N, Sayer JA, Werner A. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiological Reports 2018, 6(12), e13715.
  • Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA. ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. The American Journal of Human Genetics 2018, 103(4), 612-620.
  • Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F. Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis. Journal of the American Society of Nephrology 2015, 26(3), 543-551.
  • Rhodes HL, Yarram L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJM. Clinical and genetic analysis of patients with cystinuria in the UK. Clinical Journal of the American Society of Nephrology 2015, 10(7), 1235-1245.
  • Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale D, Sayer JA. A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’. Clinical Kidney Journal 2015, 8(1), 113-119.
  • Rice SJ, Thwaites DT, Halbritter J, Sayer JA. Cystinuria revisited: presentations with calcium-containing stones demands vigilance and screening in the stone clinic. Medical & Surgical Urology 2014, 3(3), 1-2.

• Editorial

  • Harvey NC, Clegg PD, Dennison EM, Greenhaff P, Griffin SJ, Gregson CL, Jackson MJ, Lord JM, McCloskey EV, Stevenson E, Tobias JH, Ward KA, Cooper C, Brook M, Curtis EM, Faber BG, Fuggle NR, Linaker C, Naylor AJ, Pearse C, Rice S, Wilkinson D. UKRI MRC National Musculoskeletal Ageing Network: strategic prioritisation to increase healthy lifespan and minimise physical frailty. Archives of Osteoporosis 2022, 17(1), 147.

• Reviews

  • Rai MF, Collins KH, Lang A, Maerz T, Geurts J, Ruiz-Romero C, June RK, Ramos Y, Rice SJ, Ali SA, Pastrello C, Jurisica I, Thomas Appleton C, Rockel JS, Kapoor M. Three decades of advancements in osteoarthritis research: insights from transcriptomic, proteomic, and metabolomic studies. Osteoarthritis and Cartilage 2024, 32(4), 385-397.
  • Roberts JB, Rice SJ. Osteoarthritis as an Enhanceropathy: Gene Regulation in Complex Musculoskeletal Disease. Current Rheumatology Reports 2024, 26, 222–234.
  • Ramos YFM, Rice SJ, Ali SA, Pastrello C, Jurisica I, Rai MF, Collins KH, Lang A, Maerz T, Geurts J, Ruiz-Romero C, June RK, Thomas Appleton C, Rockel JS, Kapoor M. Evolution and advancements in genomics and epigenomics in OA research: How far we have come. Osteoarthritis and Cartilage 2024, 32(7), 858-868.