Dr Paul Potter

BSc, ARCS, PhD, FRSB

Senior Lecturer and Group Leader: Disease Mechanisms and Ageing

School of Biological and Medical Sciences

Role

I am an experienced group leader and my research focuses on the genetics and pathways underlying chronic and age-related disease. I have specific interests in extracellular matrix disorders. In addition to leading my own research I collaborate with a range of groups, including the Centre for Osteoarthritis Pathogenesis at the Kennedy Institute. I was a member of the management group and a work package leader for the MouseAGE EU COST action. I continue to work on novel models of chronic and age-related disease to identify novel genes and pathways associated with disease, and to use these to search for interventions to improve health.

Areas of expertise

Genetics and Disease,
Ageing,
Disease Models,
Osteoarthritis,
Renal Disease,
Extracellular matrix

Teaching and supervision

Courses

Modules taught

I am Module Leader for:

Clinical Biochemistry
Scientific Skills

I also lecture on:

Professional and Experimental Skills,
Research Methods for Healthcare Scientists,
Evidence Based Medicine,
Independent Studies

I am also an MSc Project Supervisor.

Supervision

I have supervised a range of PhD, MSc, and undergraduate project students and will be happy to discuss opportunities to develop new projects or contribute to existing ones.

2014-2021, Andy Blease, Collagen I dysfunction resulting in chronic osteoarthritis (PhD).
2014-2018, Sara Falcone. Novel Models of Chronic Renal Disease (PhD).
2014-2018, Thomas Nicol. 2014. A novel model of mitochondrial dysfunction resulting in hypertrophic cardiomyopathy (PhD).
2017 - Pedro Romao (Diploma in Veterinary Medicine)
2012 - Hayley Tyrer. The role of HIF and hypoxia in acute and chronic mouse models of Otitis Media (PhD).
2011 - Sulzhan Bali. In vitro modelling of cellular processes in OM-BMDM studies in Junbo mice reveal defects in HIF and TGF-𝞫 signalling (PhD).

Research

My interests lie in the genetic basis of disease, with a specific focus on age-related and chronic disease. I instigated, developed, and lead, the Harwell Ageing Screen, a large-scale phenotype-driven screen to identify genes and pathways associated with age-related disease. I also collaborate on multiple individual projects around the themes of ageing and the genetic basis of disease. A key area of interest are is ECM dysfunction and current projects include novel mutations resulting in Alport syndrome, Nephrotic Syndrome or Osteoarthritis. I also have projects on sudden cardiac death, hypertrophic cardiomyopathy arising from mitochondrial dysfunction, and colitis.

Key research interest include:

Collagen I dysfunction resulting in late-onset osteoarthritis
Abnormal branched chain amino acid metabolism is associated with sudden cardiac death
A novel model of Nephrotic Syndrome caused by a point mutation in Lama5
Extracellular matrix trunover in the glomerular basement membrane
Characterisation of a novel model of colitis
The association of a mutation in the C lectin binding domain of aggrecan with osteoarthritis and obesity

Research grants and awards

INFRAFRONTIER H2020, Transnational access package

Research impact

Ageing is a major risk factor for most diseases and it is essential that we understnad the pathways resulting in age-related disease, and improve our understanding of these diseases

Groups

Disease Mechanisms and Ageing

Projects

The role of aggrecan in adipogenesis
A novel model of Nephrotic Syndrome

Publications

Maddirevula S, Shagrani M, Ji A-R, Horne CR, Young SN, Mather LJ, Alqahtani M, McKerlie C, Wood G, Potter PK, Abdulwahab F, AlSheddi T, van der Woerd WL, van Gassen KLI, AlBogami D, Kumar K, Mohammad HAS, Binomar H, Almanea H, Faqeih E, Fuchs SA, Scott JW, Murphy JM, Alkuraya FS., Large Scale Genomic Investigation of Pediatric Cholestasis Reveals a Novel Hepatorenal Ciliopathy Caused by PSKH1 Mutations
Genetics in Medicine 26 (11) (2024) ISSN: 1098-3600 eISSN: 1530-0366 Large Scale Genomic Investigation of Pediatric Cholestasis Reveals a Novel Hepatorenal Ciliopathy Caused by PSKH1 Mutations Open Access version on RADAR
Aguilar C, WilliamsD, Kurapati R, Bains RS, Mburu P, Parker A, Williams J, Concas D, Tateossian H, Haynes AR, Banks G, Vikhe P, Heise I, Hutchison M, Atkins G, Gillard S, Starbuck B, Oliveri S, Blake A, Sethi S, Kumar S, Bardhan T, Jeng JY, Johnson SL, Corns LF, Marcotti M, Simon M, Wells S, Potter PK, Lad HV, Pleiotropic brain function of whirlin identified by a novel mutation
iScience 27 (7) (2024) ISSN: 2589-0042 eISSN: 2589-0042 Pleiotropic brain function of whirlin identified by a novel mutation Open Access version on RADAR
Nicol T, Falcone S, Blease A, Vikhe P, Civiletto G, Salman Omairi S, Viscomi C, Patel K, Potter PK, Tissue-specific differences in the assembly of mitochondrial complex I is revealed by a novel ENU mutation in ECSIT
Cardiovascular Research 119 (12) (2023) pp.2213-2229 ISSN: 0008-6363 eISSN: 1755-3245 Tissue-specific differences in the assembly of mitochondrial complex I is revealed by a novel ENU mutation in ECSIT Open Access version on RADAR
Kooblall KG, Stevenson M, Stewart M, Harris L, Zalucki O, Dewhurst H, Butterfield N, Leng H, Hough TA, Ma D, Siow B, Potter P, Cox RD, Brown SDM, Horwood N, Wright B, Lockstone H, Buck D, Vincent TL, Hannan FM, Bassett JHD, Williams GR, Lines KE, Piper M, Wells S, Teboul L, Hennekam RC, Thakker RV, A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall‐Smith Syndrome
JBMR Plus 7 (6) (2023) ISSN: 2473-4039 eISSN: 2473-4039 A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall‐Smith Syndrome Open Access version on RADAR
Khalil Y, Carrino S, Lin F, Ferlin A, Lad HV, Mazzacuva F, Falcone S, Rivers N, Banks G, Concas D, Aguilar C, Haynes AR, Blease A, Nicol T, Al-Shawi R, Heywood W, Potter PK, Mills K, Gale DP, Peter T, Clayton PT, Tissue Proteome of 2-hydroxyacyl-CoA lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-oxidation
International Journal of Molecular Sciences 23 (2) (2022) ISSN: 1661-6596 eISSN: 1422-0067
Falcone S, Nicol T, Blease A, Randles MJ, Angus E, Page A, Tam FWK, Pusey CD, Lennon R, Potter PK, A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background
Kidney International 101 (3) (2021) pp.527-540 ISSN: 0085-2538 eISSN: 1523-1755 A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background Open Access version on RADAR
Portero Vincent, Nicol Thomas, Podliesna Svitlana, Marchal Gerard A, Baartscheer Antonius, Casini Simona, Tadros Rafik, Treur Jorien L, Tanck Michael W T, Cox I Jane, Probert Fay, Hough Tertius A, Falcone Sara, Beekman Leander, Müller-Nurasyid Martina, Kastenmüller Gabi, Gieger Christian, Peters Annette, Kääb Stefan, Sinner Moritz F, Blease Andrew, Verkerk Arie O, Bezzina Connie R, Potter Paul K, Remme Carol Ann, Chronically elevated branched chain amino acid levels are pro-arrhythmic
Cardiovascular Research 118 (7) (2021) pp.1742-1757 ISSN: 0008-6363 eISSN: 1755-3245 Chronically elevated branched chain amino acid levels are pro-arrhythmic Open Access version on RADAR
Randles MJ, Lausecker F, Kong Q, Suleiman H, Kolatsi-Joannou M, Davenport B, Tian P, Falcone S, Potter P, Van Agtmael T, Norman JT, Long DA, Humphries MJ, Miner JH, Lennon R, Identification of an Altered Matrix Signature in Kidney Aging and Disease
Journal of the American Society of Nephrology 32 (7) (2021) pp.1713-1732 ISSN: 1046-6673 eISSN: 1533-3450 Identification of an Altered Matrix Signature in Kidney Aging and Disease Open Access version on RADAR
Bellantuono I, de Cabo R, D Ehninger, Di Germanio C, Lawrie A, Miller J,Mitchell SJ, Navas-Enamorado I, Potter P, Tchkonia T, Trejo JL, Lamming DW, A toolbox for the longitudinal assessment of healthspan in ageing mice
Nature Protocols 15 (2020) pp.540-574 ISSN: 1754-2189 eISSN: 1750-2799 A toolbox for the longitudinal assessment of healthspan in ageing mice Open Access version on RADAR
Falcone S, Wisby L, Nicol T , Blease A, Starbuck B, Parker A, Sanderson J, Brown SDM, Scudamore CL, Pusey CD, Tam FWK, Potter PK, Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background
Scientific Reports 9 (2019) ISSN: 2045-2322 Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background Open Access version on RADAR
Christopher J, Thorsen A-S, Abujudeh S, Lourenço FC, Kemp R, Potter PK, Morrissey E, Hazelwood L, Winton DJ, Quantifying Microsatellite Mutation Rates from Intestinal Stem Cell Dynamics in Msh2-Deficient Murine Epithelium
Genetics 212 (3) (2019) pp.655-665 ISSN: 0016-6731 eISSN: 1943-2631
Trendelenburg AU, Scheuren AC, Potter PK, Müller R, Bellantuono I, Geroprotectors: A role in the treatment of frailty.
Mechanisms of Ageing and Development 180 (2019) pp.11-20 ISSN: 0047-6374 eISSN: 1872-6216 Geroprotectors: A role in the treatment of frailty. Open Access version on RADAR
Paul K Potter, A primer on ageing studies in mice: Considerations, opportunities and limitations
Drug Discovery Today: Disease Models 27 (2019) pp.23-29 ISSN: 1740-6757 eISSN: 1740-6757 A primer on ageing studies in mice: Considerations, opportunities and limitations Open Access version on RADAR
Curley M, Milne L, Smith S, Jørgensen A, Frederiksen H, Hadoke P, Potter P, Smith LB, A young testicular microenvironment protects Leydig cells against age-related dysfunction in a mouse model of premature aging.
The FASEB Journal 33 (1) (2018) pp.978-995 ISSN: 0892-6638 eISSN: 1530-6860 A young testicular microenvironment protects Leydig cells against age-related dysfunction in a mouse model of premature aging. Open Access version on RADAR
Findlay AS, Carter RN, Starbuck B, McKie L, Nováková K, Budd PS, Keighren MA, Marsh JA, Cross SH, Simon MM, Potter PK, Morton NM, Jackson IJ, Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function
Disease Models & Mechanisms 11 (12) (2018) ISSN: 1754-8403 eISSN: 1754-8411
Blease A, Das Neves Borges P, Curtinha m, Javaheri IS, von Loga, Parisi I, Zarebska J, Pitsillides A, Vincent TL, Potter PK, Studying Osteoarthritis Pathogenesis in Mice.
Current Protocols in Mouse Biology 8 (4) (2018) ISSN: 2161-2617 eISSN: 2161-2617
Blease A, Nicol T, Falcone S, Starbuck B, Greenaway S, Hutchinson M, Potter PK, Generation and Identification of Mutations Resulting in Chronic and Age-Related Phenotypes in Mice.
Current Protocols in Mouse Biology 8 (2) (2018) ISSN: 2161-2617 eISSN: 2161-2617
Potter PK, Deconstructing Gene Function through ENU Mutagenesis
eLS Online first (2018)
Bellantuono I, Van Den Brouke R, Muller R, Van Os RP, Trendelenburg AU, Potter P, Tchkonia T, Ehninger D, Fernanades A, Trejo Perez, JL, deCabo R, van Riel N, Howlett S, Find drugs that delay many diseases of old age
Nature 554 (7692) (2018) pp.293-295 ISSN: 0028-0836 eISSN: 1476-4687
Esapa CT, Piret SE, Nesbit MA, Thomas GP, Coulton LA, Gallagher OM, Simon M, Kumar S, Mallon AM, Bellantuono I, Brown MA, Croucher PI, Potter PK, Brown SDM, Cox RD, Thakker RV, An N-ethyl-N-nitrosourea (ENU) mutagenized mouse model for autosomal dominant non-syndromic kyphoscoliosis due to vertebral fusion
JBMR Plus 2 (3) (2018) pp.154-163 ISSN: 2473-4039
Jackson SJ, Andrews N, Ball D, Bellantuono I, Gray J, Hachoumi , Holmes A, Latcham J, Petrie A, Potter PK, Rice ASC, Ritchie AA, Stewart M, Strepka C, Yeoman M, Chapman K, Does age matter? The impact of rodent age on study outcomes.
Laboratory Animals 51 (2) (2017) pp.160-169 ISSN: 0023-6772 eISSN: 1758-1117
Bellantuono I, Potter PK, Modelling Ageing and Age-Related Disease
Drug Discovery Today: Disease Models 20 (2016) pp.27-32 ISSN: 1740-6757 eISSN: 1740-6757
Potter PK, Bowl MR, Jeyarajan P, Wisby L, Blease A, Goldsworthy ME, Simon MM, Greenaway S, Michel V, Barnard A, Aguilar C, Agnew T, Banks G, Blake A, Chessum L, Dorning J, Falcone S, Goosey L, Harris S, Haynes A, Heise I, Hillier R, Hough T, Hoslin A, Hutchison M, King R, Kumar S, Lad HV, Law G, MacLaren RE, Morse S, Nicol T, Parker A, Pickford K, Sethi S, Starbuck B, Stelma F, Cheeseman M, Cross SH, Foster RG, Jackson IJ, Peirson SN, Thakker RV, Vincent T, Scudamore C, Wells S, El-Amraoui A, Petit C, Acevedo-Arozena A, Nolan PM, Cox R, Mallon AM, Brown SDM, Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.
Nature Communications 7 (2016) ISSN: 2041-1723
Nicod J, Davies RW, Cai N, Hassett C, Goodstadt L, Cosgrove C, Yee BK, Lionikaite V, McIntyre RE, Remme CA, Lodder EM, Gregory JS, Hough T, Joynson R, Phelps H, Nell B, Rowe C, Wood J, Walling A, Bopp N, Bhomra A, Hernandez-Pliego P, Callebert J, Aspden RM, Talbot NP, Robbins PA, Harrison M, Fray M, Launay JM, Pinto YM, Blizard DA, Bezzina CR, Adams DJ, Franken P, Weaver T, Wells S, Brown SD, Potter PK, Klenerman P, Lionikas A, Mott R, Flint J., Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencing.
Nature Genetics 48 (8) (2016) pp.912-918 ISSN: 1061-4036
Potter PK, The Mammalian Genome special issue on ageing.
Mammalian Genome 27 (7/8) (2016) pp.257-258 ISSN: 0938-8990 eISSN: 1432-1777
Matsakas A, Prosdocimo DA, Mitchell R, Collins-Hooper H, Giallourou N, Swann JR, Potter PK, Epting T, Jain MK, Patel K, Investigating mechanisms underpinning the detrimental impact of a high-fat diet in the developing and adult hypermuscular myostatin null mouse.
Skeletal Muscle 5 (2015) ISSN: 2044-5040 eISSN: 2044-5040
Simon MM, Moresco EM, Bull KR, Kumar S, Mallon AM, Beutler B, Potter PK, Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing.
Mammalian Genome 26 (9/10) (2015) pp.486-500 ISSN: 0938-8990 eISSN: 1432-1777
de Angelis MH, Nicholson G, Selloum M, White J, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs , Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, Amann G, André P, Atkins S, Auburtin A, Ayadi A, Becker J, Becker L, Bedu E, Bekeredjian R, Birling MC, Blake A, Bottomley J, Bowl M, Brault V, Busch DH, Bussell JN, Calzada-Wack J, Cater H, Champy MF, Charles P, Chevalier C, Chiani F, Codner GF, Combe R, Cox R, Dalloneau E1, Dierich A, Di Fenza A10, Doe B17, Duchon A, Eickelberg O18, Esapa CT, El Fertak L, Feigel T10, Emelyanova I, Estabel J, Favor J, Flenniken A, Gambadoro A, Garrett L, Gates H, Gerdin AK, Gkoutos G, Greenaway S, Glasl L, Goetz P, Da Cruz IG, Götz A, Graw J, Guimond A, Hans W, Hicks G, Hölter SM, Höfler H, Hancock JM, Hoehndorf R, Hough T, Houghton R, Hurt A, Ivandic B, Jacobs H, Jacquot S, Jones N, Karp NA, Katus HA, Kitchen S, Klein-Rodewald T, Klingenspor M, Klopstock T, Lalanne V5, Leblanc S, Lengger C, le Marchand E, Ludwig T, Lux A, McKerlie C, Maier H, Mandel JL, Marschall S, Mark M, Melvin DG, Meziane H, Micklich K, Mittelhauser C, Monassier L, Moulaert D5, Muller S, Naton B, Neff F, Nolan PM, Nutter LM, Ollert M, Pavlovic G, Pellegata NS, Peter E, Petit-Demoulière B, Pickard A, Podrini C, Potter PK, Pouilly L, Puk O, Richardson D, Rousseau S, Quintanilla-Fend L, Quwailid MM, Racz I, Rathkolb B, Riet F, Rossant J, Roux M, Rozman J, Ryder E, Salisbury J, Santos L, Schäble KH, Schiller E, Schrewe A, Schulz H, Steinkamp R, Simon M, Stewart M, Stöger C, Stöger T, Sun M, Sunter D, Teboul L, Tilly I, Tocchini-Valentini GP, Tost M, Treise I, Vasseur L, Velot E, Vogt-Weisenhorn D, Wagner C, Walling A, Weber B, Wendling O, Westerberg H, Willershäuser M, Wolf E, Wolter A, Wood J, Wurst W, Yildirim AÖ, Zeh , Zimmer A, Zimprich A; EUMODIC Consortium, Holmes C, Steel KP, Herault Y, Gailus-Durner V, Mallon AM, Brown SD, Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.
Nature Genetics 47 (9) (2015) pp.969-978 ISSN: 1061-4036
Potter PK, The Interrelationship between Disease and Ageing and the Implications for Longevity.
Current Aging Science 8 (1) (2015) pp.89-94 ISSN: 1874-6098
Esapa CT, Hannan FM, Babinsky VN, Potter PK, Thomas GP, Croucher PI, Brown MA, Brown SDM, Cox RD, Thakker RV, N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.
PLoS ONE 10 (4) (2015) ISSN: 1932-6203
Luhmann, Carvalho, Holthaus, Cowing, Greenaway, Chu, Herrmann, Smith, Munro, Potter, Bainbridge, Ali, The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors.
Human Molecular Genetics 24 (1) (2015) pp.128-141 ISSN: 0964-6906
Banks G, Heise I, Starbuck B, Osborne T, Wisby L, Potter P, Jackson IJ, Foster RG, Peirson SN, Nolan PM, Genetic background influences age-related decline in visual and nonvisual retinal responses, circadian rhythms, and sleep
Neurobiology of Aging 36 (1) (2015) pp.380-393 ISSN: 0197-4580 eISSN: 1558-1497
Goldsworthy ME, Potter PK, Modelling age-related metabolic disorders in the mouse.
Mammalian Genome 25 (9/10) (2014) pp.487-496 ISSN: 0938-8990 eISSN: 1432-1777
Copier J, Potter P, Sacks SH, Kelly AP, Multiple signals regulate the intracellular trafficking of HLA-DM in B-lymphoblastoid cells
Immunology 93 (4) (1998) pp.505-510 ISSN: 0019-2805 eISSN: 1365-2567

González-Navarro,H, Dogan S, Tuna BG, Koks G, Koks S, Aging in Rodents
in Suresh Rattan (ed.), Encyclopedia of Biomedical Gerontology, Elsevier (2019) ISBN: 9780128160756

Nicol T, Falcone S, Blease A, Scudamore C, Hirst J, Viscomi C, Zeviani M, Brown SDM, Potter PK, P12 A novel model of cardiomyopathy reveals a tissue specific role for the complex i assembly factor ecsit
104 (2018) pp.A6-

Schosserer M, Banks G, Dogan S, Dungel P, Fernandes A, Marolt Presen D, Matheu A, Osuchowski M, Potter P, Sanfeliu C, Tuna BG, Varela-Nieto I, Bellantuono I, Modelling physical resilience in ageing mice. ,
(2019) Modelling physical resilience in ageing mice. Open Access version on RADAR
Drechsler S, Lynch MA, Novella S, González-Navarro H, Hecimovic S, Barini E, Tucci V, Castro RE, Vandenbroucke RE, Osuchowski M, Potter PK, With mouse age comes wisdom: A review and suggestions of relevant mouse models for age-related conditions. ,
(2017)
Kõks S, Dogan S, Tuna B, González-Navarro H, Potter PK, Vandenbroucke R, Mouse models of ageing and their relevance to disease. ,
(2016)

Professional information

Memberships of professional bodies

Fellow of the Royal Society of Biology
Member of the Centre for Osteoarthritis Pathogenesis funded by Versus Arthritis, Kennedy Centre, Oxford
Member of the Society for Experimental Biology and Medicine
Editorial Board; Experimental Biology and Medicine

Further details

Other experience

Head of Disease Model Discovery, Mammalian Genetics Unit, Medical Research Council, Harwell (Sept 2010 to April 2018), Honorary Senior Lecturer (September 2009-Oct 2011, Kennedy Institute for Rheumatology, Imperial College)
London Technology Network Business Fellow (March 2010-Oct 2011)
Head of Mutagenesis (Nov 2007 – Aug 2010), Deputy Scientific Manager (Nov 2006 – Oct 2007), Mary Lyon Centre, Medical Research Council, Harwell
Research Associate (reporting to Prof M. Botto, Prof Mark Walport)Faculty of Medicine, Imperial College (Hammersmith Hospital), London: Rheumatology Section (Nov 1999 – October 2006)
Research Associate (reporting to Dr. K. Gould) ICSM (St. Mary’s Hospital), London: Department of Immunology (Jan 1998 – Oct 1999)
Research Associate (reporting to Dr. A. Kelly) Guy’s Hospital, London: Renal Laboratory, Department of Medicine (July 1994- Jan 1998)
Research Assistant (reporting to Dr. A.K. So) RPMS, Hammersmith Hospital, London: Rheumatology Unit (Jan 1988- July 1994)
Research Assistant (reporting to Dr. John Harfield) Coulter Electronics, Luton (1983-1988) Particle sizing lab