Professional background

Dr Rahul Phadke leads the diagnostic paediatric muscle pathology service for the Dubowitz Neuromuscular Centre (DNC). The DNC is a leading national and international diagnostic and research centre specialising in neuromuscular disorders affecting children and the designated HSS England National Specialist Diagnostic and Advisory Service for congenital muscular dystrophies and congenital myopathies, as well as being designated as a muscle centre by the muscular dystrophy campaign.

Dr Phadke is the designated specialist pathologist for UCLH for the European Reference Network for Neuromuscular Disorders. Dr Phadke contributes to diagnostic surgical neuropathology reporting including brain biopsies and neurological post mortems.

Dr Phadke is the educational lead for year four medical undergraduates rotating at Queen Square. He has lectured on paediatric and adult muscle pathology at various national and international meetings, contributed to E-Brain resource and is actively involved in providing muscle pathology training for national/international visitors to the DNC. Dr Phadke has a key research interest in paediatric neuromuscular disorders with a focus on Duchenne muscular dystrophy and mitochondrial disorders. Key research themes include developing novel digital pathology and spatial transcriptomics techniques, and their application to neuromuscular disorders as diagnostic and functional validation tools, and as pathology outcome measures in pharmacological and gene therapy clinical trials.

Research interests

  • Duchenne muscular dystrophy
  • Mitochondrial diseases
  • Digital pathology

Publications

Scaglioni D, Ellis M, Catapano F, Torelli S, Chambers D, Feng L, Sewry C, Morgan J, Muntoni F, Phadke R. A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies. Acta Neuropathol Commun. 2020 Apr 17;8(1):53. doi: 10.1186/s40478-020-00918-5. PMID: 32303261; PMCID: PMC7165405.

Bugiardini E, Khan AM, Phadke R, Lynch DS, Cortese A, Feng L, Gang Q, Pittman AM, Morrow JM, Turner C, Carr AS, Quinlivan R, Rossor AM, Holton JL, Parton M, Blake JC, Reilly MM, Houlden H, Matthews E, Hanna MG. Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre. Neuromuscul Disord. 2019 Oct;29(10):747-757. doi: 10.1016/j.nmd.2019.08.003. Epub 2019 Aug 19. PMID: 31561939.

Phadke R. Myopathology of Congenital Myopathies: Bridging the Old and the New. Semin Pediatr Neurol. 2019 Apr;29:55-70. doi: 10.1016/j.spen.2019.01.007. Epub 2019 Feb 10. PMID: 31060726.

Phadke R, Hedberg-Oldfors C, Scalco RS, Lowe DM, Ashworth M, Novelli M, Vara R, Merwick A, Amer H, Sofat R, Sugarman M, Jovanovic A, Roberts M, Nakou V, King A, Bodi I, Jungbluth H, Oldfors A, Murphy E. RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature. J Inherit Metab Dis. 2020 Sep;43(5):1002-1013. doi: 10.1002/jimd.12234. Epub 2020 Apr 16. PMID: 32187699.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892; PMCID: PMC6105519.

Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2. PMID: 29391587.

Phadke R. Myopathology of Adult and Paediatric Mitochondrial Diseases. J Clin Med. 2017 Jul 4;6(7):64. doi: 10.3390/jcm6070064. PMID: 28677615; PMCID: PMC5532572.