Research Focus


  • Neuro-Ophthalmology
  • Mitochondrial Disease
  • Optic Neuropathies
  • Gene Therapy
  • Clinical Conditions

  • Genetic disorders
  • Equipment & Techniques

  • Other
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    Professor Patrick Yu-Wai-Man BMedSci, MBBS, PhD, FRCPath, FRCOphth

    University Position
    Professor Patrick Yu-Wai-Man is pleased to consider applications from prospective PhD students.


    I am an academic neuro-ophthalmologist with a major research interest in optic neuropathies, neurogenetics and mitochondrial eye diseases. I hold joint clinical appointments at Addenbrooke's Hospital in Cambridge and Moorfields Eye Hospital in London as an Honorary Consultant. My research programme is currently focused on dissecting the disease mechanisms leading to progressive retinal ganglion cell loss in inherited optic neuropathies by using a combination of patient tissues, induced pluripotent stem cells and animal models. I was awarded an NIHR Advanced Fellowship (2021-2026) to evaluate patient outcomes and fast track the development of effective therapies for this group of disorders, in particular novel gene therapy approaches. I am the Director of the Cambridge Clinical Vision Laboratory (CCVL) that was set up as a cross-cutting facility to support advanced therapeutics on the Cambridge Biomedical Campus.

    Key Publications


    Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.

    Journal: Brain
    E-pub date: 19 Apr 2023
    Authors: NJ Newman, P Yu-Wai-Man, PS Subramanian, ML Moster, A-G Wang, SP Donahue, BP Leroy, V Carelli, V Biousse, C Vignal-Clermont, RC Sergott, AA Sadun, G Rebolleda Fernández, BK Chwalisz, R Banik, F Bazin, M Roux, ED Cox, M Taiel, J-A Sahel, LHON REFLECT Study Group

    OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion.

    Journal: Proc Natl Acad Sci U S A
    E-pub date: 21 Mar 2023
    Authors: B Cartes-Saavedra, D Lagos, J Macuada, D Arancibia, F Burté, MK Sjöberg-Herrera, ME Andrés, R Horvath, P Yu-Wai-Man, G Hajnóczky, V Eisner

    Early detection of visual impairment in young children using a smartphone-based deep learning system.

    Journal: Nat Med
    E-pub date: 1 Feb 2023
    Authors: W Chen, R Li, Q Yu, A Xu, Y Feng, R Wang, L Zhao, Z Lin, Y Yang, D Lin, X Wu, J Chen, Z Liu, Y Wu, K Dang, K Qiu, Z Wang, Z Zhou, D Liu, Q Wu, M Li, Y Xiang, X Li, Z Lin, D Zeng, Y Huang, S Mo, X Huang, S Sun, J Hu, J Zhao, M Wei, S Hu, L Chen, B Dai, H Yang, D Huang, X Lin, L Liang, X Ding, Y Yang, P Wu, F Zheng, N Stanojcic, J-PO Li, CY Cheung, E Long, C Chen, Y Zhu, P Yu-Wai-Man, R Wang, W-S Zheng, X Ding, H Lin

    A digital mask to safeguard patient privacy.

    Journal: Nat Med
    E-pub date: 1 Sep 2022
    Authors: Y Yang, J Lyu, R Wang, Q Wen, L Zhao, W Chen, S Bi, J Meng, K Mao, Y Xiao, Y Liang, D Zeng, Z Du, Y Wu, T Cui, L Liu, WC Iao, X Li, CY Cheung, J Zhou, Y Hu, L Wei, IF Lai, X Yu, J Chen, Z Wang, Z Mao, H Ye, W Xiao, H Yang, D Huang, X Lin, W-S Zheng, R Wang, P Yu-Wai-Man, F Xu, Q Dai, H Lin

    Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.

    Journal: J Neuroophthalmol
    E-pub date: 1 Mar 2022
    Authors: JP Harvey, PE Sladen, P Yu-Wai-Man, ME Cheetham

    Dominant optic atrophy: Culprit mitochondria in the optic nerve.

    Journal: Prog Retin Eye Res
    E-pub date: 1 Jul 2021
    Authors: G Lenaers, A Neutzner, Y Le Dantec, C Jüschke, T Xiao, S Decembrini, S Swirski, S Kieninger, C Agca, US Kim, P Reynier, P Yu-Wai-Man, J Neidhardt, B Wissinger

    [11C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease.

    Journal: Neurology
    E-pub date: 31 May 2021
    Authors: J van den Ameele, Y Hong, R Manavaki, A Kouli, H Biggs, Z MacIntyre, R Horvath, P Yu-Wai-Man, E Reid, CH Williams-Gray, E Bullmore, F Aigbirhio, T Fryer, P Chinnery

    Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.

    Journal: Ophthalmology
    E-pub date: 1 May 2021
    Authors: NJ Newman, P Yu-Wai-Man, V Carelli, ML Moster, V Biousse, C Vignal-Clermont, RC Sergott, T Klopstock, AA Sadun, P Barboni, AA DeBusk, JF Girmens, G Rudolph, R Karanjia, M Taiel, L Blouin, G Smits, B Katz, J-A Sahel, LHON Study Group

    Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy.

    Journal: Sci Transl Med
    E-pub date: 9 Dec 2020
    Authors: P Yu-Wai-Man, NJ Newman, V Carelli, ML Moster, V Biousse, AA Sadun, T Klopstock, C Vignal-Clermont, RC Sergott, G Rudolph, C La Morgia, R Karanjia, M Taiel, L Blouin, P Burguière, G Smits, C Chevalier, H Masonson, Y Salermo, B Katz, S Picaud, DJ Calkins, J-A Sahel

    SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

    Journal: Ann Neurol
    E-pub date: 1 Sep 2019
    Authors: N Jurkute, C Leu, H-M Pogoda, G Arno, AG Robson, G Nürnberg, J Altmüller, H Thiele, S Motameny, MR Toliat, K Powell, W Höhne, M Michaelides, AR Webster, AT Moore, M Hammerschmidt, P Nürnberg, P Yu-Wai-Man, M Votruba

    International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

    Journal: J Neuroophthalmol
    E-pub date: 1 Dec 2017
    Authors: V Carelli, M Carbonelli, IF de Coo, A Kawasaki, T Klopstock, WA Lagrèze, C La Morgia, NJ Newman, C Orssaud, JWR Pott, AA Sadun, J van Everdingen, C Vignal-Clermont, M Votruba, P Yu-Wai-Man, P Barboni