![Marcela Votruba MA BM BCh FRCOphth PhD FLSW](https://profiles-cardiff.imgix.net/attachments/2879?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Yr Athro Marcela Votruba
MA BM BCh FRCOphth PhD FLSW
- Sylwebydd y cyfryngau
- Ar gael fel goruchwyliwr ôl-raddedig
Timau a rolau for Marcela Votruba
Athro ac Anrhydeddus Ymgynghorydd mewn Offthalmoleg
Trosolwg
Crynodeb
Rwy'n wyddonydd clinigol sy'n gweithio ar glefyd genetig y llygaid ac rwy'n angerddol am ddatblygu therapïau newydd ar gyfer clefydau prin. Rwy'n cynnal ymchwil glinigol, gan gynnwys deall blaenoriaethau a phrofiadau cleifion clefyd genetig y llygaid a chost therapïau newydd, ac ymchwil labordy. Yn flaenorol, gwasanaethais fel Pennaeth yr Ysgol Optometreg a Gwyddorau Gweledigaeth am 6 blynedd (2014-2019).
Fel Gwyddonydd Clinigol, rwy'n rheoli cleifion yn Adran Llygaid Ysbyty Athrofaol Cymru sydd â chlefydau llygaid etifeddol fel dystroffïau retina a niwropathïau optig, gan redeg Clinig Llygaid Genetig. Rwy'n cymryd rhan mewn ymchwil a threialon clinigol masnachol ac academaidd. Fi yw Arweinydd Arbenigedd Offthalmoleg Cenedlaethol HCRW yng Nghymru ac yn Aelod o Banel Arweiniol Arbenigedd NIHR y DU ar gyfer Offthalmoleg.
Mae gan y Grŵp Ymchwil Mitocondria a Gweledigaeth (MV Lab) ddiddordeb yn rôl camweithrediad mitocondrial oherwydd mwtaniad mewn nifer cynyddol o enynnau, yn pathoffisioleg niwropathi optig etifeddol. Mae ein dull wedi rhoi pwyslais ar gynhyrchu systemau model i astudio colli celloedd ganglion retinol (RGC) a dirywiad retinol mewnol. Y cyfeiriad presennol yw archwilio a gwerthuso ymyriadau therapiwtig newydd. Mae fy ymchwil yn rhychwantu dwy thema- Niwrowyddoniaeth a Heneiddio (https://www.cardiff.ac.uk/optometry-vision-sciences/research/themes/neurodegeneration-and-ageing) a Bôn-gelloedd, Adfywio ac Atgyweirio (https://www.cardiff.ac.uk/optometry-vision-sciences/research/themes/stem-cells,-regeneration-and-repair). Mae wedi'i ymgorffori mewn dau grŵp ymchwil amlddisgyblaethol - Neurodegeneration to Regeneration (https://www.cardiff.ac.uk/research/explore/research-units/n2r) a Ocular Therapeutics (https://www.cardiff.ac.uk/research/explore/research-units/ocular-therapeutics).
Trosolwg o Ymchwil
Mae fy nodau wedi'u hanelu at ddatblygu dealltwriaeth ddyfnach o glefyd llygaid etifeddol ac yn y pen draw defnyddio fy swydd fel offthalmolegydd clinigol i yrru cymhwyso ymchwil drosiadol yn y maes hwn. Fy mhrif ddiddordeb ymchwil yw pathoffisioleg clefydau etifeddol retina a nerfau optig.
Ar hyn o bryd rwy'n ymchwilio i niwropathïau optig etifeddol, sy'n fodel pur o golli celloedd ganglion retina ynysig. Maent yn dangos rôl ganolog ar gyfer mitocondria ac yn dangos niwroddirywiad cynyddol. Celloedd ganglion retina (RGCs) yw'r celloedd sy'n ffurfio nerf y golwg, gan gymryd ysgogiadau o'r retina i'r ymennydd. Atroffi optig dominyddol autosomal (ADOA) a niwropathi optig etifeddol Lever (LHON) yw'r niwropathïau optig etifeddol mwyaf cyffredin ac mae'r ddau yn cynnwys camweithrediad mitochondrial. Mae ADOA yn cael ei achosi gan fwtaniadau yn y genyn OPA1, sy'n arwain at golli RGC a cholli golwg, sy'n dechrau gyntaf mewn plant a phobl ifanc. Nid oes triniaeth effeithiol ar gael. Mae'r protein mutant OPA1 yn ymwneud â siâp neu swyddogaeth organellau bach yn y gell, y mitocondria. Mae mitocondria yn bwysig wrth gynhyrchu ynni yn y gell. Yn dilyn ein gwaith i nodweddu ffenoteip y clefyd a chlonio genyn y clefyd, mae fy ngrŵp wedi dadansoddi'r sbectrwm o fwtaniadau yn y genyn OPA1 a chydberthynas genoteip / ffenoteip, perfformio astudiaethau swyddogaethol a mynegiant o'r genyn OPA1 ac asesu ei rôl ehangach mewn niwropathi optig etifeddol wedi datblygu systemau model i archwilio mecanweithiau a llwybrau colli RGC a phrofi therapïau newydd.
Gweminar Retina UK
https://www.youtube.com/watch?v=dteG8EdykuI
Gweminar "Gofynnwch i'r Arbenigwr" Yr Athro Marcela Votruba, Athro Offthalmoleg ym Mhrifysgol Caerdydd ac ymgynghorydd yn Ysbyty Athrofaol Cymru lle mae'n rhedeg clinig llygaid genetig. Yn ystod y sesiwn, cafodd cyfranogwyr gyfle i ofyn cwestiynau a gyflwynwyd ymlaen llaw yn ogystal â chymryd rhan mewn sesiwn holi ac ateb byw. Roedd y drafodaeth yn cwmpasu ystod eang o bynciau, o bryderon personol i'r datblygiadau diweddaraf mewn ymchwil offthalmoleg.
https://www.youtube.com/watch?v=PjP8ACbprKc
https://www.youtube.com/watch?v=F_ukt2LC1LA
https://faculti.net/visual-improvement-in-patients-with-lebers-hereditary-optic-neuropathy/
https://healthandcareresearchwales.org/votruba
Cyhoeddiad
2026
- Lin, S. et al., 2026. Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I. American Journal of Human Genetics (10.1016/j.ajhg.2026.09.008)
- Jezkova, J. et al., 2026. Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project. European Journal of Human Genetics (10.1038/s41431-026-02234-3)
- Binns, A. M. et al., 2026. Oral glycoside supplement (triterpenoid saponins) for early and intermediate stage age-related macular degeneration (SAMADI trial): study protocol for a double masked randomised placebo-controlled feasibility trial. Pilot and Feasibility Studies (10.1186/s40814-026-01888-6)
- Elliott, J. et al., 2026. Consensus recommendations for the clinical management of Wolfram syndrome using a Delphi method. medRxiv (10.64898/2026.07.02.26357130)
- Bourne, R. et al., 2026. A commentary on the updated research priorities in ophthalmology: implications and future directions [Comment]. Eye 40 , pp.755-757. (10.1038/s41433-026-04263-0)
2025
- Alqahtani, H. B. , Votruba, M. and Regini, J. 2025. Do retinal implants provide long-term efficacy, safety and improve quality of life? A systematic review. Therapeutic Advances in Ophthalmology 17 (10.1177/25158414251385884)
- Sanders, F. W. B. and Votruba, M. 2025. Outcomes of idebenone therapy for Leber hereditary optic neuropathy in a cohort of patients from Wales. Eye 39 , pp.2952-2957. (10.1038/s41433-025-03993-x)
- Sanders, F. and Votruba, M. 2025. Genetic landscape of inherited retinal dystrophies in a Welsh tertiary referral centre. British Journal of Ophthalmology 109 , pp.845-851. (10.1136/bjo-2024-327049)
- Li, S. W. R. , Gardner, A. and Votruba, M. 2025. The retina as a biomarker for Parkinson's disease: a systematic review. Neuro-Ophthalmology 50 (1), pp.1-12. (10.1080/01658107.2025.2547216)
- Subramanian, P. et al., 2025. Sex-based differences in visual acuity outcomes in a historical cohort of patients with Leber Hereditary Optic Neuropathy from case record survey-2 (CRS-2) (P5-11.018). Neurology 104 (7_Supp)(10.1212/wnl.0000000000211353)
- Yang, Y. et al., 2025. Sleep and mood in central serous chorioretinopathy. Eye 39 (8), pp.1615-1623. (10.1038/s41433-025-03688-3)
2024
- Cimaglia, G. et al. 2024. Oral nicotinamide provides robust, dose-dependent structural and metabolic neuroprotection of retinal ganglion cells in experimental glaucoma. Acta Neuropathologica Communications 12 137. (10.1186/s40478-024-01850-8)
- Bourne, R. R. A. et al., 2024. The UK clinical eye research strategy: refreshing research priorities for clinical eye research in the UK. Eye 38 , pp.1947-1957. (10.1038/s41433-024-03049-6)
- Yu-Wai-Man, P. et al., 2024. Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial. Cell Reports Medicine 5 (3) 101437. (10.1016/j.xcrm.2024.101437)
- Ng, V. et al., 2024. The landscape of clinical trials research in inherited ophthalmic disease. Ophthalmic Genetics 45 (6), pp.558-565. (10.1080/13816810.2024.2378013)
2022
- Thomas, R. H. et al., 2022. Research priorities for mitochondrial disorders: current landscape and patient and professional views. Journal of Inherited Metabolic Disease 45 (4), pp.796-803. (10.1002/jimd.12521)
2021
- Beirne, K. et al. 2021. Red light irradiation in vivo upregulates DJ-1 in the retinal ganglion cell layer and protects against axotomy-related dendritic pruning. International Journal of Molecular Sciences 22 (16) 8380. (10.3390/ijms22168380)
- Tribble, J. R. et al., 2021. Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction. Redox Biology 43 101988. (10.1016/j.redox.2021.101988)
- Kim, D. , Votruba, M. and Roy, S. 2021. Opa1 deficiency promotes development of retinal vascular lesions in diabetic retinopathy. International Journal of Molecular Sciences 22 (11) 5928. (10.3390/ijms22115928)
- Erchova, I. , Sun, S. and Votruba, M. 2021. A perspective on accelerated ageing caused by genetic deficiency of the metabolic protein, OPA1. Frontiers in Neurology 12 641259. (10.3389/fneur.2021.641259)
- Ng, W. S. V. et al. 2021. New avenues for therapy in mitochondrial optic neuropathies. Therapeutic Advances in Rare Disease 2 , pp.1-14. (10.1177/26330040211029037)
2020
- Catarino, C. B. et al., 2020. Real-world clinical experience with Idebenone in the treatment of Leber hereditary optic neuropathy. Journal of Neuro-Ophthalmology 40 (4), pp.558-565. (10.1097/WNO.0000000000001023)
- Varricchio, C. et al. 2020. Discovery of Novel 2-Aniline-1,4-naphthoquinones as potential new drug treatment for Leber’s hereditary optic neuropathy (LHON). Journal of Medicinal Chemistry 63 (22), pp.13638 -13655. (10.1021/acs.jmedchem.0c00942)
- Cimaglia, G. et al. 2020. Potential therapeutic benefit of NAD+ supplementation for glaucoma and age-related macular degeneration. Nutrients 12 (9) 2871. (10.3390/nu12092871)
- Bevan, R. J. et al. 2020. OPA1 deficiency accelerates hippocampal synaptic remodelling and age-related deficits in learning and memory. Brain Communications 2 (2) fcaa101. (10.1093/braincomms/fcaa101)
- Meschede, I. P. et al., 2020. Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1. Proceedings of the National Academy of Sciences 117 (27), pp.15684-15693. 3. (10.1073/pnas.2000304117)
- Charif, M. et al., 2020. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. Neurology Genetics 6 (3) e428. (10.1212/NXG.0000000000000428)
- Sun, S. et al. 2020. Opa1 deficiency leads to diminished mitochondrial bioenergetics with compensatory increased mitochondrial motility. Investigative Ophthalmology & Visual Science 61 (6) 42. (10.1167/iovs.61.6.42)
- Varricchio, C. et al. 2020. The ying and yang of idebenone: Not too little, not too much - cell death in NQO1 deficient cells and the mouse retina. Free Radical Biology and Medicine 152 , pp.551-560. (10.1016/j.freeradbiomed.2019.11.030)
2019
- Jurkute, N. et al., 2019. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Annals of Neurology 86 (3), pp.368-383. (10.1002/ana.25550)
- Morny, E. K. A. et al. 2019. The relationship between the photopic negative response and retinal ganglion cell topography. Investigative Ophthalmology & Visual Science 60 (6), pp.1879-1887. (10.1167/iovs.18-25272)
- Jurkute, N. et al., 2019. Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. European Journal of Human Genetics 27 , pp.494-502. (10.1038/s41431-018-0235-y)
- Kousal, B. et al., 2019. Peripapillary microcirculation in Leber hereditary optic neuropathy. Acta Ophthalmologica 97 (1), pp.e71-e76. (10.1111/aos.13817)
2018
- Diot, A. et al., 2018. Validating the RedMIT/GFP-LC3 mouse model by studying mitophagy in Autosomal Dominant Optic Atrophy due to the OPA1Q285STOP mutation. Frontiers in Cell and Developmental Biology 6 103. (10.3389/fcell.2018.00103)
- Dawson, S. R. et al., 2018. Ophthalmology research in the UK's National Health Service: the structure and performance of the NIHR?s Ophthalmology research portfolio. Eye 33 , pp.610-618. (10.1038/s41433-018-0251-8)
2017
- Mahajan, D. and Votruba, M. 2017. Can the retina be used to diagnose and plot the progression of Alzheimer's disease?. Acta Ophthalmologica 95 (8), pp.768-777. (10.1111/aos.13472)
- Carelli, V. et al., 2017. International consensus statement on the clinical and therapeutic management of Leber's Hereditary Optic Neuropathy.. Journal of Neuro-Ophthalmology 37 (4), pp.371-381. (10.1097/WNO.0000000000000570)
- Majander, A. et al., 2017. Childhood-onset Leber hereditary optic neuropathy. British Journal of Ophthalmology 101 (11), pp.1505-1509. (10.1136/bjophthalmol-2016-310072)
- Mahajan, D. and Votruba, M. 2017. A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy. Acta Ophthalmologica 95 (S259)(10.1111/j.1755-3768.2017.02682)
- Majinder, A. et al., 2017. The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy. Mitochondrion 36 , pp.138-149. (10.1016/j.mito.2017.07.006)
- Liskova, P. et al., 2017. OPA1 analysis in an international series of probands with bilateral optic atrophy. Acta Ophthalmologica 95 (4), pp.363-369. (10.1111/aos.13285)
- Beirne, K. , Rozanowska, M. and Votruba, M. 2017. Photostimulation of mitochondria as a treatment for retinal neurodegeneration. Mitochondrion (10.1016/j.mito.2017.05.002)
- Karaa, A. et al., 2017. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Journal of Inherited Metabolic Disease 40 (3), pp.403-414. (10.1007/s10545-017-0035-5)
- Liao, C. et al., 2017. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology 88 (2), pp.131-142. (10.1212/WNL.0000000000003491)
- Majander, A. et al., 2017. The pattern of retinal ganglion cell loss in OPA1-related autosomal dominant optic atrophy inferred from temporal, spatial, and chromatic sensitivity losses. Investigative Ophthalmology & Visual Science 58 (1), pp.502-516. (10.1167/iovs.16-20309)
2016
- Yu-Wai-Man, P. et al., 2016. A neurodegenerative perspective on mitochondrial optic neuropathies. Acta Neuropathologica 132 (6), pp.789-806. (10.1007/s00401-016-1625-2)
- Kushnareva, Y. et al., 2016. Mitochondrial dysfunction in an Opa1Q285STOP mouse model of dominant optic atrophy results from Opa1 haploinsufficiency. Cell Death and Disease 7 e2309. (10.1038/cddis.2016.160)
- Beirne, K. , Rozanowska, M. and Votruba, M. 2016. Red light treatment in an axotomy model of neurodegeneration. Photochemistry and Photobiology 92 (4), pp.624-631. (10.1111/php.12606)
- Navein, A. E. et al., 2016. Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity. Human Molecular Genetics 25 (12), pp.2404-2416. (10.1093/hmg/ddw107)
- Smith, T. G. et al., 2016. A randomized, placebo-controlled trial of the benzoquinone idebenone in a mouse model of OPA1-related dominant optic atrophy reveals a limited therapeutic effect on retinal ganglion cell dendropathy and visual function. Neuroscience 319 , pp.92-106. (10.1016/j.neuroscience.2016.01.042)
2015
- Morny, E. K. A. et al. 2015. Electrophysiological ON and OFF responses in autosomal dominant optic atrophy. Investigative Ophthalmology & Visual Science 56 (13), pp.7629-7637. (10.1167/iovs.15-17951)
- Pratyusha, G. and Votruba, M. 2015. Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome). Acta Ophthalmologica 93 (7), pp.e598-e599. (10.1111/aos.12690)
- Ganne, P. , Garrioch, R. and Votruba, M. 2015. Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting. Ophthalmic Genetics 36 (1), pp.50-57. (10.3109/13816810.2014.985845)
- Sergouniotis, P. I. et al., 2015. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics 16 (1), pp.69-75. (10.1007/s10048-014-0416-y)
2014
- Morris, B. and Votruba, M. 2014. Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation [Letter]. Acta Ophthalmologica 92 (1), pp.e77. (10.1111/aos.12100)
- Rowe, F. et al., 2014. The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey process. BMJ Open 4 (7) e004905. (10.1136/bmjopen-2014-004905)
- Yu-Wai-Man, P. et al., 2014. Treatment strategies for inherited optic neuropathies: past, present and future. Eye 28 (5), pp.521-537. (10.1038/eye.2014.37)
2013
- Bailie, M. et al., 2013. Visual and psychological morbidity among patients with autosomal dominant optic atrophy [Letter]. Acta Ophthalmologica 91 (5), pp.e413-e414. (10.1111/aos.12077)
- Liskova, P. et al., 2013. NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthalmologica 91 (3), pp.225-231. (10.1111/aos.12038)
- Perganta, G. et al., 2013. Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy. PLoS ONE 8 (2) e56350. (10.1371/journal.pone.0056350)
- Smith, T. G. and Votruba, M. 2013. Inherited dominant optic neuropathy: from clinical studies to gene function and back again. Drug Discovery Today: Disease Models 10 (4), pp.173-180. (10.1016/j.ddmod.2014.02.001)
- Williams, P. A. et al., 2013. Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease. Neurobiology of Aging 34 (7), pp.1799-1806. (10.1016/j.neurobiolaging.2013.01.006)
2012
- Wells, T. et al. 2012. Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome. Human Molecular Genetics 21 (22), pp.4836-4844. (10.1093/hmg/dds315)
- Chen, L. et al., 2012. OPA1 mutation and late-onset cardiomyopathy: Mitochondrial dysfunction and mtDNA instability. Journal of the American Heart Association e003012. (10.1161/JAHA.112.003012)
- Klionsky, D. J. , Votruba, M. and and 1268 other authors, 2012. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 8 (4), pp.445-544. (10.4161/auto.19496)
- Liao, C. et al., 2012. Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations [Abstract]. Neuromuscular Disorders 22 (S1), pp.S3. (10.1016/S0960-8966(12)70003-2)
- Morris, B. and Votruba, M. 2012. Leber's optic neuropathy - visual return on alcohol cessation [Letter]. Acta Ophthalmologica 90 (7) e568. (10.1111/j.1755-3768.2012.02387.x)
- Williams, P. A. et al. 2012. Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity. Brain 135 (2), pp.493-505. (10.1093/brain/awr330)
2011
- Barnard, A. R. et al., 2011. Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy. Experimental Eye Research 93 (5), pp.771-777. (10.1016/j.exer.2011.07.004)
- Hamblion, E. L. et al., 2011. Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK. British Journal of Ophthalmology 96 (3), pp.360-365. (10.1136/bjo.2010.201178)
- Powell, K. A. et al. 2011. Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III. Investigative Ophthalmology & Visual Science 52 (7), pp.4369-4380. (10.1167/iovs.10-6406)
- Williams, P. A. , Morgan, J. E. and Votruba, M. 2011. Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?. Vision Research 51 (2), pp.229-234. (10.1016/j.visres.2010.08.031)
2010
- Sheppard, J. et al. 2010. Changes in corneal collagen architecture during mouse postnatal development. Investigative Ophthalmology & Visual Science 51 (6), pp.2936-2942. (10.1167/iovs.09-4612)
- Williams, P. A. , Morgan, J. E. and Votruba, M. 2010. Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy. Brain 133 (10), pp.2942-2951. (10.1093/brain/awq218)
- Yu-Wai-Man, P. et al., 2010. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133 (3), pp.771-786. (10.1093/brain/awq007)
2009
- White, K. E. et al., 2009. OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy. Investigative Ophthalmology & Visual Science 50 (6), pp.2567-2571. (10.1167/iovs.08-2913)
- Yu-Wai-Man, P. et al., 2009. Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy. Investigative Ophthalmology & Visual Science 50 (10), pp.4561-4566. (10.1167/iovs.09-3634)
2008
- Davies, V. J. et al. 2008. A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain 131 (2), pp.368-380. (10.1093/brain/awm333)
2007
- Davies, V. J. et al. 2007. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Human Molecular Genetics 16 (11), pp.1307-1318. (10.1093/hmg/ddm079)
- Hayes, S. et al. 2007. Comparative Study of Fibrillar Collagen Arrangement in the Corneas of Primates and Other Mammals. The Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology 290 (12), pp.1542-1550. (10.1002/ar.20613)
2006
- Davies, V. J. and Votruba, M. 2006. Focus on molecules: the OPA1 protein. Experimental Eye Research 83 (5), pp.1003-1004. (10.1016/j.exer.2005.11.021)
2004
- Aijaz, S. et al., 2004. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Investigative Ophthalmology and Visual Science 45 (6), pp.1667-1673. (10.1167/iovs.03-1093)
- Votruba, M. 2004. Molecular genetic basis of primary inherited optic neuropathies. Eye 18 (11), pp.1126-1132. (10.1038/sj.eye.6701570)
2003
- Aijaz, S. , Bhattacharya, S. S. and Votruba, M. 2003. Expression profile of OPA1, the gene associated with autosomal dominant optic atrophy in the developing and adult mammalian retina [Abstract]. Investigative Ophthalmology and Visual Science 44 (E-Abst)
- Granse, L. et al., 2003. Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene [Abstract]. Investigative Ophthalmology and Visual Science 44 (S), pp.U446.
- Votruba, M. , Aijaz, S. and Moore, A. T. 2003. A review of primary hereditary optic neuropathies. Journal of Inherited Metabolic Disease 26 (2-3), pp.209-227. (10.1023/A:1024441302074)
- Votruba, M. , Thiselton, D. and Bhattacharya, S. S. 2003. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. British Journal of Ophthalmology 87 (1), pp.48-53.
2002
- Thiselton, D. L. et al., 2002. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 43 (6), pp.1715-1724.
- Aung, T. et al., 2002. A major marker for normal tension glaucoma: Association with polymorphisms in the OPA1 gene. Human Genetics 110 (1), pp.52-56. (10.1007/s00439-001-0645-7)
- Votruba, M. et al. 2002. Primary monophasic synovial sarcoma of the conjunctiva [Letter]. British Journal of Ophthalmology 86 (12), pp.1453-1454. (10.1136/bjo.86.12.1453)
2001
- Thiselton, D. L. et al., 2001. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Human Genetics 109 (5), pp.498-502. (10.1007/s004390100600)
- Bremner, F. D. et al., 2001. The pupil in dominant optic atrophy. Investigative Ophthalmology and Visual Science 42 (3), pp.675-678.
- Gong, Y. Q. et al., 2001. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107 (4), pp.513-523. (10.1016/S0092-8674(01)00571-2)
- Ocaka, L. et al., 2001. The gene responsibly for autosomal dominant optic atrophy, OPA1 is not associated with normal tension glaucoma [Abstract]. Investigative Ophthalmology and Visual Science 42 (4), pp.S564.
- Votruba, M. 2001. An "overtrained" ophthalmologist responds [Letter]. British Journal of Ophthalmology 85 (11), pp.1394. (10.1136/bjo.85.11.1394)
- Votruba, M. and Gregor, Z. 2001. Neovascular age-related macular degeneration: present and future treatment options. Eye 15 (3), pp.424-429. (10.1038/eye.2001.147)
2000
- Alexander, C. et al., 2000. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 [Letter]. Nature Genetics 26 (2), pp.211-215. (10.1038/79944)
- Votruba, M. et al. 2000. MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy. Neuroradiology 42 (3), pp.180-183. (10.1007/s002340050041)
1999
- Votruba, M. 1999. Clinical and functional features of patients with dominant optic atrophy - Reply. Archives of Ophthalmology 117 (2), pp.287-288.
1998
- Holder, G. E. et al., 1998. Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. Documenta Ophthalmologica 95 (3-4), pp.217-228. (10.1023/A:1001844021014)
- Simunovic, M. P. et al., 1998. Colour discrimination ellipses in patients with dominant optic atrophy. Vision Research 38 (21), pp.3413-3419. (10.1016/S0042-6989(98)00094-7)
- Votruba, M. , Collins, C. M. P. and Harrad, R. A. 1998. The management of solitary trichoepithelioma versus basal cell carcinoma. Eye 12 (1), pp.43-46. (10.1038/eye.1998.7)
- Votruba, M. et al. 1998. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Archives of Ophthalmology 116 (3), pp.351-358. (10.1001/pubs.Ophthalmol.-ISSN-0003-9950-116-3-eog7505)
- Votruba, M. , Moore, A. T. and Bhattacharya, S. S. 1998. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. Journal of Medical Genetics 35 (10), pp.793-800. (10.1136/jmg.35.10.793)
- Votruba, M. , Moore, A. T. and Bhattacharya, S. S. 1998. Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method - A study of 38 British Isles pedigrees. Human Genetics 102 (1), pp.79-86. (10.1007/s004390050657)
- Votruba, M. et al. 1998. Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. Mammalian Genome 9 (10), pp.784-787. (10.1007/s003359900867)
1997
- Votruba, M. , Moore, A. T. and Bhattacharya, S. S. 1997. Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. Journal of Medical Genetics 34 (2), pp.117-121. (10.1136/jmg.34.2.117)
1994
- Votruba, M. 1994. The case of the disappearing bullet [Letter]. Eye 8 (1), pp.143-144. (10.1038/eye.1994.28)
1993
- Sharma, A. and Votruba, M. 1993. Thymoxamine in the treatment of traumatic mydriasis [Letter]. British Journal of Ophthalmology 77 (10), pp.681. (10.1136/bjo.77.10.681-a)
Erthyglau
- Lin, S. et al., 2026. Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I. American Journal of Human Genetics (10.1016/j.ajhg.2026.09.008)
- Jezkova, J. et al., 2026. Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project. European Journal of Human Genetics (10.1038/s41431-026-02234-3)
- Binns, A. M. et al., 2026. Oral glycoside supplement (triterpenoid saponins) for early and intermediate stage age-related macular degeneration (SAMADI trial): study protocol for a double masked randomised placebo-controlled feasibility trial. Pilot and Feasibility Studies (10.1186/s40814-026-01888-6)
- Elliott, J. et al., 2026. Consensus recommendations for the clinical management of Wolfram syndrome using a Delphi method. medRxiv (10.64898/2026.07.02.26357130)
- Bourne, R. et al., 2026. A commentary on the updated research priorities in ophthalmology: implications and future directions [Comment]. Eye 40 , pp.755-757. (10.1038/s41433-026-04263-0)
- Alqahtani, H. B. , Votruba, M. and Regini, J. 2025. Do retinal implants provide long-term efficacy, safety and improve quality of life? A systematic review. Therapeutic Advances in Ophthalmology 17 (10.1177/25158414251385884)
- Sanders, F. W. B. and Votruba, M. 2025. Outcomes of idebenone therapy for Leber hereditary optic neuropathy in a cohort of patients from Wales. Eye 39 , pp.2952-2957. (10.1038/s41433-025-03993-x)
- Sanders, F. and Votruba, M. 2025. Genetic landscape of inherited retinal dystrophies in a Welsh tertiary referral centre. British Journal of Ophthalmology 109 , pp.845-851. (10.1136/bjo-2024-327049)
- Li, S. W. R. , Gardner, A. and Votruba, M. 2025. The retina as a biomarker for Parkinson's disease: a systematic review. Neuro-Ophthalmology 50 (1), pp.1-12. (10.1080/01658107.2025.2547216)
- Subramanian, P. et al., 2025. Sex-based differences in visual acuity outcomes in a historical cohort of patients with Leber Hereditary Optic Neuropathy from case record survey-2 (CRS-2) (P5-11.018). Neurology 104 (7_Supp)(10.1212/wnl.0000000000211353)
- Yang, Y. et al., 2025. Sleep and mood in central serous chorioretinopathy. Eye 39 (8), pp.1615-1623. (10.1038/s41433-025-03688-3)
- Cimaglia, G. et al. 2024. Oral nicotinamide provides robust, dose-dependent structural and metabolic neuroprotection of retinal ganglion cells in experimental glaucoma. Acta Neuropathologica Communications 12 137. (10.1186/s40478-024-01850-8)
- Bourne, R. R. A. et al., 2024. The UK clinical eye research strategy: refreshing research priorities for clinical eye research in the UK. Eye 38 , pp.1947-1957. (10.1038/s41433-024-03049-6)
- Yu-Wai-Man, P. et al., 2024. Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial. Cell Reports Medicine 5 (3) 101437. (10.1016/j.xcrm.2024.101437)
- Ng, V. et al., 2024. The landscape of clinical trials research in inherited ophthalmic disease. Ophthalmic Genetics 45 (6), pp.558-565. (10.1080/13816810.2024.2378013)
- Thomas, R. H. et al., 2022. Research priorities for mitochondrial disorders: current landscape and patient and professional views. Journal of Inherited Metabolic Disease 45 (4), pp.796-803. (10.1002/jimd.12521)
- Beirne, K. et al. 2021. Red light irradiation in vivo upregulates DJ-1 in the retinal ganglion cell layer and protects against axotomy-related dendritic pruning. International Journal of Molecular Sciences 22 (16) 8380. (10.3390/ijms22168380)
- Tribble, J. R. et al., 2021. Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction. Redox Biology 43 101988. (10.1016/j.redox.2021.101988)
- Kim, D. , Votruba, M. and Roy, S. 2021. Opa1 deficiency promotes development of retinal vascular lesions in diabetic retinopathy. International Journal of Molecular Sciences 22 (11) 5928. (10.3390/ijms22115928)
- Erchova, I. , Sun, S. and Votruba, M. 2021. A perspective on accelerated ageing caused by genetic deficiency of the metabolic protein, OPA1. Frontiers in Neurology 12 641259. (10.3389/fneur.2021.641259)
- Ng, W. S. V. et al. 2021. New avenues for therapy in mitochondrial optic neuropathies. Therapeutic Advances in Rare Disease 2 , pp.1-14. (10.1177/26330040211029037)
- Catarino, C. B. et al., 2020. Real-world clinical experience with Idebenone in the treatment of Leber hereditary optic neuropathy. Journal of Neuro-Ophthalmology 40 (4), pp.558-565. (10.1097/WNO.0000000000001023)
- Varricchio, C. et al. 2020. Discovery of Novel 2-Aniline-1,4-naphthoquinones as potential new drug treatment for Leber’s hereditary optic neuropathy (LHON). Journal of Medicinal Chemistry 63 (22), pp.13638 -13655. (10.1021/acs.jmedchem.0c00942)
- Cimaglia, G. et al. 2020. Potential therapeutic benefit of NAD+ supplementation for glaucoma and age-related macular degeneration. Nutrients 12 (9) 2871. (10.3390/nu12092871)
- Bevan, R. J. et al. 2020. OPA1 deficiency accelerates hippocampal synaptic remodelling and age-related deficits in learning and memory. Brain Communications 2 (2) fcaa101. (10.1093/braincomms/fcaa101)
- Meschede, I. P. et al., 2020. Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1. Proceedings of the National Academy of Sciences 117 (27), pp.15684-15693. 3. (10.1073/pnas.2000304117)
- Charif, M. et al., 2020. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. Neurology Genetics 6 (3) e428. (10.1212/NXG.0000000000000428)
- Sun, S. et al. 2020. Opa1 deficiency leads to diminished mitochondrial bioenergetics with compensatory increased mitochondrial motility. Investigative Ophthalmology & Visual Science 61 (6) 42. (10.1167/iovs.61.6.42)
- Varricchio, C. et al. 2020. The ying and yang of idebenone: Not too little, not too much - cell death in NQO1 deficient cells and the mouse retina. Free Radical Biology and Medicine 152 , pp.551-560. (10.1016/j.freeradbiomed.2019.11.030)
- Jurkute, N. et al., 2019. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Annals of Neurology 86 (3), pp.368-383. (10.1002/ana.25550)
- Morny, E. K. A. et al. 2019. The relationship between the photopic negative response and retinal ganglion cell topography. Investigative Ophthalmology & Visual Science 60 (6), pp.1879-1887. (10.1167/iovs.18-25272)
- Jurkute, N. et al., 2019. Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. European Journal of Human Genetics 27 , pp.494-502. (10.1038/s41431-018-0235-y)
- Kousal, B. et al., 2019. Peripapillary microcirculation in Leber hereditary optic neuropathy. Acta Ophthalmologica 97 (1), pp.e71-e76. (10.1111/aos.13817)
- Diot, A. et al., 2018. Validating the RedMIT/GFP-LC3 mouse model by studying mitophagy in Autosomal Dominant Optic Atrophy due to the OPA1Q285STOP mutation. Frontiers in Cell and Developmental Biology 6 103. (10.3389/fcell.2018.00103)
- Dawson, S. R. et al., 2018. Ophthalmology research in the UK's National Health Service: the structure and performance of the NIHR?s Ophthalmology research portfolio. Eye 33 , pp.610-618. (10.1038/s41433-018-0251-8)
- Mahajan, D. and Votruba, M. 2017. Can the retina be used to diagnose and plot the progression of Alzheimer's disease?. Acta Ophthalmologica 95 (8), pp.768-777. (10.1111/aos.13472)
- Carelli, V. et al., 2017. International consensus statement on the clinical and therapeutic management of Leber's Hereditary Optic Neuropathy.. Journal of Neuro-Ophthalmology 37 (4), pp.371-381. (10.1097/WNO.0000000000000570)
- Majander, A. et al., 2017. Childhood-onset Leber hereditary optic neuropathy. British Journal of Ophthalmology 101 (11), pp.1505-1509. (10.1136/bjophthalmol-2016-310072)
- Mahajan, D. and Votruba, M. 2017. A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy. Acta Ophthalmologica 95 (S259)(10.1111/j.1755-3768.2017.02682)
- Majinder, A. et al., 2017. The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy. Mitochondrion 36 , pp.138-149. (10.1016/j.mito.2017.07.006)
- Liskova, P. et al., 2017. OPA1 analysis in an international series of probands with bilateral optic atrophy. Acta Ophthalmologica 95 (4), pp.363-369. (10.1111/aos.13285)
- Beirne, K. , Rozanowska, M. and Votruba, M. 2017. Photostimulation of mitochondria as a treatment for retinal neurodegeneration. Mitochondrion (10.1016/j.mito.2017.05.002)
- Karaa, A. et al., 2017. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Journal of Inherited Metabolic Disease 40 (3), pp.403-414. (10.1007/s10545-017-0035-5)
- Liao, C. et al., 2017. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology 88 (2), pp.131-142. (10.1212/WNL.0000000000003491)
- Majander, A. et al., 2017. The pattern of retinal ganglion cell loss in OPA1-related autosomal dominant optic atrophy inferred from temporal, spatial, and chromatic sensitivity losses. Investigative Ophthalmology & Visual Science 58 (1), pp.502-516. (10.1167/iovs.16-20309)
- Yu-Wai-Man, P. et al., 2016. A neurodegenerative perspective on mitochondrial optic neuropathies. Acta Neuropathologica 132 (6), pp.789-806. (10.1007/s00401-016-1625-2)
- Kushnareva, Y. et al., 2016. Mitochondrial dysfunction in an Opa1Q285STOP mouse model of dominant optic atrophy results from Opa1 haploinsufficiency. Cell Death and Disease 7 e2309. (10.1038/cddis.2016.160)
- Beirne, K. , Rozanowska, M. and Votruba, M. 2016. Red light treatment in an axotomy model of neurodegeneration. Photochemistry and Photobiology 92 (4), pp.624-631. (10.1111/php.12606)
- Navein, A. E. et al., 2016. Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity. Human Molecular Genetics 25 (12), pp.2404-2416. (10.1093/hmg/ddw107)
- Smith, T. G. et al., 2016. A randomized, placebo-controlled trial of the benzoquinone idebenone in a mouse model of OPA1-related dominant optic atrophy reveals a limited therapeutic effect on retinal ganglion cell dendropathy and visual function. Neuroscience 319 , pp.92-106. (10.1016/j.neuroscience.2016.01.042)
- Morny, E. K. A. et al. 2015. Electrophysiological ON and OFF responses in autosomal dominant optic atrophy. Investigative Ophthalmology & Visual Science 56 (13), pp.7629-7637. (10.1167/iovs.15-17951)
- Pratyusha, G. and Votruba, M. 2015. Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome). Acta Ophthalmologica 93 (7), pp.e598-e599. (10.1111/aos.12690)
- Ganne, P. , Garrioch, R. and Votruba, M. 2015. Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting. Ophthalmic Genetics 36 (1), pp.50-57. (10.3109/13816810.2014.985845)
- Sergouniotis, P. I. et al., 2015. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics 16 (1), pp.69-75. (10.1007/s10048-014-0416-y)
- Morris, B. and Votruba, M. 2014. Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation [Letter]. Acta Ophthalmologica 92 (1), pp.e77. (10.1111/aos.12100)
- Rowe, F. et al., 2014. The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey process. BMJ Open 4 (7) e004905. (10.1136/bmjopen-2014-004905)
- Yu-Wai-Man, P. et al., 2014. Treatment strategies for inherited optic neuropathies: past, present and future. Eye 28 (5), pp.521-537. (10.1038/eye.2014.37)
- Bailie, M. et al., 2013. Visual and psychological morbidity among patients with autosomal dominant optic atrophy [Letter]. Acta Ophthalmologica 91 (5), pp.e413-e414. (10.1111/aos.12077)
- Liskova, P. et al., 2013. NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthalmologica 91 (3), pp.225-231. (10.1111/aos.12038)
- Perganta, G. et al., 2013. Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy. PLoS ONE 8 (2) e56350. (10.1371/journal.pone.0056350)
- Smith, T. G. and Votruba, M. 2013. Inherited dominant optic neuropathy: from clinical studies to gene function and back again. Drug Discovery Today: Disease Models 10 (4), pp.173-180. (10.1016/j.ddmod.2014.02.001)
- Williams, P. A. et al., 2013. Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease. Neurobiology of Aging 34 (7), pp.1799-1806. (10.1016/j.neurobiolaging.2013.01.006)
- Wells, T. et al. 2012. Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome. Human Molecular Genetics 21 (22), pp.4836-4844. (10.1093/hmg/dds315)
- Chen, L. et al., 2012. OPA1 mutation and late-onset cardiomyopathy: Mitochondrial dysfunction and mtDNA instability. Journal of the American Heart Association e003012. (10.1161/JAHA.112.003012)
- Klionsky, D. J. , Votruba, M. and and 1268 other authors, 2012. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 8 (4), pp.445-544. (10.4161/auto.19496)
- Liao, C. et al., 2012. Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations [Abstract]. Neuromuscular Disorders 22 (S1), pp.S3. (10.1016/S0960-8966(12)70003-2)
- Morris, B. and Votruba, M. 2012. Leber's optic neuropathy - visual return on alcohol cessation [Letter]. Acta Ophthalmologica 90 (7) e568. (10.1111/j.1755-3768.2012.02387.x)
- Williams, P. A. et al. 2012. Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity. Brain 135 (2), pp.493-505. (10.1093/brain/awr330)
- Barnard, A. R. et al., 2011. Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy. Experimental Eye Research 93 (5), pp.771-777. (10.1016/j.exer.2011.07.004)
- Hamblion, E. L. et al., 2011. Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK. British Journal of Ophthalmology 96 (3), pp.360-365. (10.1136/bjo.2010.201178)
- Powell, K. A. et al. 2011. Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III. Investigative Ophthalmology & Visual Science 52 (7), pp.4369-4380. (10.1167/iovs.10-6406)
- Williams, P. A. , Morgan, J. E. and Votruba, M. 2011. Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?. Vision Research 51 (2), pp.229-234. (10.1016/j.visres.2010.08.031)
- Sheppard, J. et al. 2010. Changes in corneal collagen architecture during mouse postnatal development. Investigative Ophthalmology & Visual Science 51 (6), pp.2936-2942. (10.1167/iovs.09-4612)
- Williams, P. A. , Morgan, J. E. and Votruba, M. 2010. Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy. Brain 133 (10), pp.2942-2951. (10.1093/brain/awq218)
- Yu-Wai-Man, P. et al., 2010. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133 (3), pp.771-786. (10.1093/brain/awq007)
- White, K. E. et al., 2009. OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy. Investigative Ophthalmology & Visual Science 50 (6), pp.2567-2571. (10.1167/iovs.08-2913)
- Yu-Wai-Man, P. et al., 2009. Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy. Investigative Ophthalmology & Visual Science 50 (10), pp.4561-4566. (10.1167/iovs.09-3634)
- Davies, V. J. et al. 2008. A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain 131 (2), pp.368-380. (10.1093/brain/awm333)
- Davies, V. J. et al. 2007. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Human Molecular Genetics 16 (11), pp.1307-1318. (10.1093/hmg/ddm079)
- Hayes, S. et al. 2007. Comparative Study of Fibrillar Collagen Arrangement in the Corneas of Primates and Other Mammals. The Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology 290 (12), pp.1542-1550. (10.1002/ar.20613)
- Davies, V. J. and Votruba, M. 2006. Focus on molecules: the OPA1 protein. Experimental Eye Research 83 (5), pp.1003-1004. (10.1016/j.exer.2005.11.021)
- Aijaz, S. et al., 2004. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Investigative Ophthalmology and Visual Science 45 (6), pp.1667-1673. (10.1167/iovs.03-1093)
- Votruba, M. 2004. Molecular genetic basis of primary inherited optic neuropathies. Eye 18 (11), pp.1126-1132. (10.1038/sj.eye.6701570)
- Aijaz, S. , Bhattacharya, S. S. and Votruba, M. 2003. Expression profile of OPA1, the gene associated with autosomal dominant optic atrophy in the developing and adult mammalian retina [Abstract]. Investigative Ophthalmology and Visual Science 44 (E-Abst)
- Granse, L. et al., 2003. Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene [Abstract]. Investigative Ophthalmology and Visual Science 44 (S), pp.U446.
- Votruba, M. , Aijaz, S. and Moore, A. T. 2003. A review of primary hereditary optic neuropathies. Journal of Inherited Metabolic Disease 26 (2-3), pp.209-227. (10.1023/A:1024441302074)
- Votruba, M. , Thiselton, D. and Bhattacharya, S. S. 2003. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. British Journal of Ophthalmology 87 (1), pp.48-53.
- Thiselton, D. L. et al., 2002. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 43 (6), pp.1715-1724.
- Aung, T. et al., 2002. A major marker for normal tension glaucoma: Association with polymorphisms in the OPA1 gene. Human Genetics 110 (1), pp.52-56. (10.1007/s00439-001-0645-7)
- Votruba, M. et al. 2002. Primary monophasic synovial sarcoma of the conjunctiva [Letter]. British Journal of Ophthalmology 86 (12), pp.1453-1454. (10.1136/bjo.86.12.1453)
- Thiselton, D. L. et al., 2001. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Human Genetics 109 (5), pp.498-502. (10.1007/s004390100600)
- Bremner, F. D. et al., 2001. The pupil in dominant optic atrophy. Investigative Ophthalmology and Visual Science 42 (3), pp.675-678.
- Gong, Y. Q. et al., 2001. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107 (4), pp.513-523. (10.1016/S0092-8674(01)00571-2)
- Ocaka, L. et al., 2001. The gene responsibly for autosomal dominant optic atrophy, OPA1 is not associated with normal tension glaucoma [Abstract]. Investigative Ophthalmology and Visual Science 42 (4), pp.S564.
- Votruba, M. 2001. An "overtrained" ophthalmologist responds [Letter]. British Journal of Ophthalmology 85 (11), pp.1394. (10.1136/bjo.85.11.1394)
- Votruba, M. and Gregor, Z. 2001. Neovascular age-related macular degeneration: present and future treatment options. Eye 15 (3), pp.424-429. (10.1038/eye.2001.147)
- Alexander, C. et al., 2000. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 [Letter]. Nature Genetics 26 (2), pp.211-215. (10.1038/79944)
- Votruba, M. et al. 2000. MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy. Neuroradiology 42 (3), pp.180-183. (10.1007/s002340050041)
- Votruba, M. 1999. Clinical and functional features of patients with dominant optic atrophy - Reply. Archives of Ophthalmology 117 (2), pp.287-288.
- Holder, G. E. et al., 1998. Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. Documenta Ophthalmologica 95 (3-4), pp.217-228. (10.1023/A:1001844021014)
- Simunovic, M. P. et al., 1998. Colour discrimination ellipses in patients with dominant optic atrophy. Vision Research 38 (21), pp.3413-3419. (10.1016/S0042-6989(98)00094-7)
- Votruba, M. , Collins, C. M. P. and Harrad, R. A. 1998. The management of solitary trichoepithelioma versus basal cell carcinoma. Eye 12 (1), pp.43-46. (10.1038/eye.1998.7)
- Votruba, M. et al. 1998. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Archives of Ophthalmology 116 (3), pp.351-358. (10.1001/pubs.Ophthalmol.-ISSN-0003-9950-116-3-eog7505)
- Votruba, M. , Moore, A. T. and Bhattacharya, S. S. 1998. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. Journal of Medical Genetics 35 (10), pp.793-800. (10.1136/jmg.35.10.793)
- Votruba, M. , Moore, A. T. and Bhattacharya, S. S. 1998. Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method - A study of 38 British Isles pedigrees. Human Genetics 102 (1), pp.79-86. (10.1007/s004390050657)
- Votruba, M. et al. 1998. Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. Mammalian Genome 9 (10), pp.784-787. (10.1007/s003359900867)
- Votruba, M. , Moore, A. T. and Bhattacharya, S. S. 1997. Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. Journal of Medical Genetics 34 (2), pp.117-121. (10.1136/jmg.34.2.117)
- Votruba, M. 1994. The case of the disappearing bullet [Letter]. Eye 8 (1), pp.143-144. (10.1038/eye.1994.28)
- Sharma, A. and Votruba, M. 1993. Thymoxamine in the treatment of traumatic mydriasis [Letter]. British Journal of Ophthalmology 77 (10), pp.681. (10.1136/bjo.77.10.681-a)
Ymchwil
Diddordebau Ymchwil
Mae fy ymchwil yn canolbwyntio ar rôl mitocondria yn pathoffisioleg clefyd niwroddirywiol. Mae fy ffocws wedi bod yn niwropathi optig etifeddol, gyda phwyslais ar gynhyrchu systemau model i astudio colli celloedd ganglion retina (RGC) a dirywiad retinol mewnol, sy'n digwydd fel ffenomen sylfaenol mewn nifer o glefydau genetig dynol.
Rydym yn astudio colli ac achub RGC in vitro ac in vivo, a dilyniannau'r niwroddirywiad hwn ar retina mewnol. I'r perwyl hwn, rydym wedi bod yn defnyddio llinellau celloedd ganglion retina a RGCs cynradd, i archwilio effaith genynnau ymasiad a holltiad mitocondrial ar hyfywedd celloedd a mecanwaith marwolaeth celloedd. Rydym hefyd yn archwilio rôl asiantau niwroprotectiol. Gwyddys bod OPA1 yn rhwymo i'r bilen mitocondrial fewnol, a phan fydd yn mwtadu, credir bod cydbwysedd arferol ymasiad a holltiad mitocondrial yn cael ei amharu a marwolaeth celloedd wedi'i raglennu yn cael ei gychwyn gan golli potensial pilen mitochondrial a rhyddhau cytochrome c. Rydym hefyd yn ymchwilio i rôl y genyn OPA3 mewn colli RGC a ffurfio cataract. Credir bod gan OPA3, fel OPA1, rôl mewn dynameg pilen mitochondrial, a phan fydd yn ei fwtadu yn y dynol, mae clefyd niwroddirywiol cymhleth, sy'n cynnwys niwropathi optig eilaidd i golli RGC, cataracta a dirywiad niwrogyhyrol, yn codi.
Recriwtio treialon clinigol cyfredol
Astudiaeth hanes naturiol posibl o gleifion ag atroffi optig dominyddol autosomal (FALCON). Noddwr Stoke Therpaeutics STK-001
Astudiaeth label agored i ymchwilio i ddiogelwch, goddefgarwch ac amlygiad dosau esgynnol sengl o'r oligonucleotid antisense STK-002 mewn cleifion ag atroffi optig dominyddol autosomal (OSPREY). Noddwr Stoke Therpaeutics STK-002 Cam 1 ADOA
Cofrestrfa Cleifion Fyd-eang o Glefydau Retina Etifeddol Cofrestrfa EYE-RD. Noddwr Janssen Research & Development LLC
Ar gyfer pob recriwtio treialon cleifion, cysylltwch â [email protected] neu [email protected]
Myfyrwyr Ymchwil Ôl-raddedig Cyfredol
2021-2024 Mariia Grudina, Goruchwyliwr Cynradd Marcela Votruba. Cyd-oruchwylwyr Ben Mead a Malgorzata Rozanowska. Teitl: "Modelau bôn-gelloedd pluripotent a achosir gan ddynol ar gyfer astudio a thrin niwropathïau optig mitochondrial".
2021-2024 Ysgoloriaeth Twrcaidd. Esmahan Durmez, cyd-oruchwyliwr gyda Ben Mead. Teitl: "Profi therapiwtig o exosomes ar gyfer clefyd retina".
2022-2025 Ysgoloriaeth Cymdeithas Glawcoma Rhyngwladol. Matyas Kutnyanszky. co-suTitle: "Exosomes for glawcoma therapeutics".
Cyn-fyfyrwyr Ymchwil
Cymdeithion Ymchwil Ôl-ddoethurol
- Dr Vanessa Davies
- Dr Ruby Grewel
- Dr Andrew Hollins
- Dr Kate Powell
- Dr Terry Smith
- Dr Kathy Beirne
- Dr Carmine Varrachio
- Dr Irina Erchova
- Dr Dinesh Kumar Kandaswamy, Cymrawd Rhyngwladol Newton
- Dr Matthieu Trigano
- Dr Thomas Freeman
- Dr Gloria Cimaglia
- Dr Wyn Firth
Cynorthwywyr Technegol
- Elaine Taylor
- Sharon Seto
- Pascale Aeschlimann
Cyn-fyfyrwyr PhD
- Dr Jack Sheppard
- Dr Gosia Piechota
- Dr Jennifer Davies
- Yr Athro Pete Williams
- Dr Carolyn Walker
- Dr Kathy Beirne
- Dr Carmine Varricchio
- Dr Shanshan Sun
- Dr Gloria Cimaglia
Cynllun Hyfforddiant Proffesiynol
- Rebecca Thirgood
Cymrodyr Sefydliad EVER
- Dr Pratyusha Ganne BM BCh FRCOphth
- Dr Deepti Mahajan MD FRCOphth
Myfyrwyr Haf
Dr Marrios Sarros MD, Dr Costas Karabatsas MD, Yip Wan Fen NSc, Laura Byrne, Amanda Mui, Rebecca Watts, Roshini Joseph, Oliver Coppleston, Christopher Man, Kestutis Satkus
Cyllid grant diweddar a chyfredol
2024-2025 Grant Ymchwil BMA Dawkins & Strutt. Votruba M. "Trosglwyddo mitocondrial mewn niwropathi optig".
Grant Prosiect Fight for Sight 2023-2026 . Votruba M, Morgan J, Mead B, Rozanowska M. "Strwythur RGC a swyddogaeth mitochondrial yn LHON: paradocs adferiad a ffenestr therapiwtig estynedig."
2019-2022 Cymrodoriaeth Ryngwladol Newton Academi'r Gwyddorau Meddygol. Gwesteiwr M Votruba. Cyd-Dinesh Kumar Kandaswamy. "Therapi golau is-goch agos fel regimen therapiwtig ar gyfer niwropathi optig etifeddol."
2019-2022 Brwydr am Ysgoloriaeth Golwg. Morgan JE, Votruba M, Williams P. "Therapi NAD mewn glawcoma".
Grant Prosiect y Ganolfan Ymchwil Llygaid Genedlaethol 2020-2022 . "Fformwleiddiadau rhyddhau parhaus ar gyfer cyffuriau newydd wrth drin niwropathïau optig mitochondrial." Votruba M, Brancale A, Rozanowska M a Heard C.
Gwobr Cydgrynhoi ISSF3 Ymddiriedolaeth Wellcome 2019-2020 . C Varrachio. M Votruba, Noddwr B Newlands.
2019-2020 Gwobr Trawsddisgyblaethol ISSF3 Ymddiriedolaeth Wellcome. Light for Sight – niwroprotection mewn niwropathi optig mitochondrial. M Votruba, M Rozanowska, J Hicks, S Armstrong.
Cydweithwyr Ymchwil
Rhyngwladol
Yr Athro Pete Williams, Athro Cynorthwyol, Adran Niwrowyddoniaeth Glinigol, Adran Offthalmoleg a Gweledigaeth, Sefydliad Karolinska, Stockholm
Yr Athro Anne A. Knowlton, MD, Athro Meddygaeth a Ffarmacoleg Feddygol, Cardioleg Moleciwlaidd a Chellog, Prifysgol California, Davis, California, UDA.
Yr Athro Don Newmeyer, Ph.D., Sefydliad La Jolla ar gyfer Alergedd ac Imiwnoleg, La Jolla, CA, UDA.
Yr Athro Peter Nuernberg, Ph.D., Canolfan Genomeg Cologne, Prifysgol Cologne, yr Almaen.
Yr Athro Sayan Roy, Ph.D., FARVO, Athro Meddygaeth, Adran Diabetes, Endocrinoleg a Maeth ac Athro Offthalmoleg, Ysgol Feddygaeth Prifysgol Boston, UDA.
Cenedlaethol
Yr Athro Patrick Yu-Wai-Man, Gwyddonydd Clinigol MRC, Grŵp Ymchwil Mitocondrial, Prifysgol Caergrawnt ac UCL, Ysbyty Llygaid Moorfields
Yr Athro Ron Douglas, Athro Gwyddoniaeth Weledol: Dirprwy Bennaeth Adran, Prifysgol Dinas Llundain
Yr Athro Jo Poulton, Ph.D. MRCP, Athro Geneteg Mitocondrial, Ysbyty John Radcliffe, Prifysgol Rhydychen
Yr Athro Tim Wells, Ph.D., Ysgol Biowyddoniaeth, Prifysgol Caerdydd.
Dr Ben Newland Ph.D., Ysgol Fferylliaeth a Gwyddorau Fferyllol Cymru, Prifysgol Caerdydd
Addysgu
Undergraduate Optometry Teaching
I lecture to final year Optometry students on the Abnormal Ocular Conditions Course.
Postgraduate Teaching in Ophthalmology
2009
- Neuro-ophthalmology case. Visual recovery in Leber$acirc; s hereditary Optic Neuropathy. Ophthalmology Postgraduate Teaching, University Hospital Wales, Cardiff
2010
- Practical genetics of optic atrophy. Ophthalmology Postgraduate Teaching, University Hospital Wales, Cardiff
- Invited Judge for Vision Research Day, Cardiff.
2011
- Retinal ganglion cell dendropathy. Ophthalmology Postgraduate Teaching, University Hospital Wales, Cardiff.
- Invited Judge for Vision Research Day, Cardiff.
2012
- Mitochondrial eye disease, Ophthalmology Postgraduate Teaching, University Hospital Wales, Cardiff.
Bywgraffiad
University Education
1981-1984 Undergraduate Pre-Clinical Studies:The Queen$acirc; s College, University of Oxford
1984-1987 Clinical Studies: Green College, University of Oxford Medical School
Academic And Professional Qualifications
1984 BA Hons 2:1 (Oxon)
1987 MA (Oxon)
1987 BM BCh (Oxon)
1989 Primary FRCS
1990 Optics & Refraction, Royal College of Ophthalmologists, London
1991 MRCOphth, London
1992 FRCOphth, London
1999 PhD, University College, London
2000 CCST (December 2000), Royal College of Ophthalmologists, London
Awards And Honours
Undergraduate Distinctions
1981 Open Scholarship, The Queen$acirc; s College, Oxford
1984 First Class Hons. Dissertation, Oxford University
1987 Final Year Clinical Prize: Green College, Green College, Oxford
Postgraduate Prizes
1996 The Royal Society of Medicine: Ophthalmology Section- Registrars$acirc; Meeting: First Prize (Awarded for the Best Paper at Annual Training Meeting)
Research Fellowships
1994 Guide Dogs for the Blind Association Research Fellowship
1998 Wellcome Trust Vision Research Training Fellowship
2002 Frost Research Fellowship
2003 MRC Clinician Scientist Fellowship
Appointments
Present Substantive Appointment
Aug 2011 Professor and Hon. Consultant in Ophthalmology, Cardiff University and The Cardiff & Vale NHS Trust, University Hospital of Wales.
Previous Substantive Appointments
April 2003- October 2003 Full-time Consultant in Medical Retina, Moorfields Eye Hospital, Service Lead for Audit & Clinical Governance, Service Lead for ARMD Research.
Oct 2003- Sept 2007 MRC Clinician Scientist Fellow & Hon. Consultant
Senior Lecturer, Cardiff University and The University Hospital of Wales.
Teaching
Undergraduate Optometry Teaching
I lecture to final year Optometry students on the Abnormal Ocular Conditions Course.
Postgraduate Teaching in Ophthalmology
2009
- Neuro-ophthalmology case. Visual recovery in Leber$acirc; s hereditary Optic Neuropathy. Ophthalmology Postgraduate Teaching, University Hospital Wales, Cardiff
2010
- Practical genetics of optic atrophy. Ophthalmology Postgraduate Teaching, University Hospital Wales, Cardiff
- Invited Judge for Vision Research Day, Cardiff.
2011
- Retinal ganglion cell dendropathy. Ophthalmology Postgraduate Teaching, University Hospital Wales, Cardiff.
- Invited Judge for Vision Research Day, Cardiff.
2012
- Mitochondrial eye disease, Ophthalmology Postgraduate Teaching, University Hospital Wales, Cardiff.
Administration
I sit of the School of Optometry & Vision Sciences Research Committee (2007- present). Since 2012 I have been Deputy Director of Research and am Chair of the REF Working Group. I am also a member of the Equality & diversity /SWAN ATHENA Committee in OPTOM.
Other Academic Activities
Principal Investigator on the MRC Mouse Eyes & Vision Consortium.
Editorial Board of Acta Ophthalmologica
Editorial Board of the World Journal of Neurology
Guest Editor for Drug Discovery Today: Disease Models (with Prof Ian Jackson, Edinburgh)
External Committees:
UK Eye Genetics Group Steering Committee,
Lead Principal Investigator and co-ordinator of the MRC Mouse Eyes & Vision Consortium.
I am Programme Secretary (2011-2016) of European Association for Vision and Eye Research (EVER). I was the Vice President, 2009-2010, and past Section Chair for Molecular Biology/ Genetics/ Epidemiology on the Board of EVER (2004-2009). I was also the Editor of the EVER eNewsletter, which is published four times per year (2005-2009).
Innovation and Engagement:
I am STEM Net Ambassador and have been into local schools in Bristol to give talks about science and careers in science and medicine (e.g., Redland High school, Bristol, March 2013).
I am a Mentor for two research fellows.
Anrhydeddau a dyfarniadau
Undergraduate Distinctions
- 1981 Open Scholarship, The Queens College, Oxford
- 1984 First Class Hons. Dissertation, Oxford University
- 1987 Final Year Clinical Prize: Green College, Green College, Oxford
Postgraduate Prizes
- 1996 The Royal Society of Medicine: Ophthalmology Section- Registrars Meeting: First Prize (Awarded for the Best Paper at Annual Training Meeting)
Research Fellowships
- 1994 Guide Dogs for the Blind Association Research Fellowship
- 1998 Wellcome Trust Vision Research Training Fellowship
- 2002 Frost Research Fellowship
- 2003 MRC Clinician Scientist Fellowship
Aelodaethau proffesiynol
Present Substantive Appointment
- Aug 2011 Professor and Hon. Consultant in Ophthalmology, Cardiff University and The Cardiff & Vale NHS Trust, University Hospital of Wales.
Previous Substantive Appointments
- April 2003- October 2003 Full-time Consultant in Medical Retina, Moorfields Eye Hospital, Service Lead for Audit & Clinical Governance, Service Lead for ARMD Research.
- Oct 2003- Sept 2007 MRC Clinician Scientist Fellow & Hon. Consultant Senior Lecturer, Cardiff University and The University Hospital of Wales.
Safleoedd academaidd blaenorol
Penodiad Sylweddol Presennol
Athro Offthalmoleg, Prifysgol Caerdydd ac Ymgynghorydd mewn Offthalmoleg, Ymddiriedolaeth GIG Caerdydd a'r Fro, Ysbyty Athrofaol Cymru
Apwyntiadau Sylweddol blaenorol
Ionawr 2014- Rhag 2019 Pennaeth Ysgol Optometreg a Gwyddorau Golwg, Prifysgol Caerdydd
Awst 2011 - Rhag 2013 Athro ac Ymgynghorydd Anrhydeddus mewn Offthalmoleg, Prifysgol Caerdydd ac Ymddiriedolaeth GIG Caerdydd a'r Fro , Ysbyty Athrofaol Cymru
Hydref 2007 - Gorffennaf 2011 Uwch Ddarlithydd Ymgynghorol Anrhydeddus, Prifysgol Caerdydd ac Ymddiriedolaeth GIG Caerdydd a'r Fro, Ysbyty Athrofaol Cymru.
Hydref 2003 - Medi 2007 Cymrawd Gwyddonydd Clinigwr MRC ac Uwch Ddarlithydd Ymgynghorol Anrhydeddus, Prifysgol Caerdydd ac Ysbyty Athrofaol Cymru
Ebrill 2003 - Hydref 2003 Ymgynghorydd mewn Retina Meddygol, Ysbyty Llygaid Moorfields, Llundain ac Arweinydd Gwasanaeth ar gyfer Archwilio a Llywodraethu Clinigol ac Arweinydd Gwasanaeth ar gyfer Ymchwil ARMD
Apwyntiadau eraill
2019 -parhaus Athro Gwâd, Prifysgol Charles Prague, Gweriniaeth Tsiec
2002 Visiting Research Scholar, National Eye Institute, Sefydliadau Cenedlaethol Iechyd, Bethesda, MD, UDA
Pwyllgorau ac adolygu
Paneli cynghori grant
- 2025 aelod parhaus o Fwrdd Cynghori Gwyddonol Cyfarwyddwyr Cyllid Rhyngwladol ar gyfer Ystadegau Rhyngwladol (IFOND)
- 2020-2023 Dirprwy Gadeirydd, Panel Cynghori Grant Ymladd dros Olwg, y DU
- 2015 – 2020 Aelod o Banel Cynghorwyr Grantiau, y Ganolfan Genedlaethol Ymchwil Llygaid, y DU
- 2017– 2022 Aelod o'r Bwrdd Cynghori Grantiau, RP Fighting Blindness/ Retina UK
- 2012 – 2017 Aelod o Banel Cynghori Grantiau, Fight for Sight, y DU
Rolau arwain mewn cymdeithasau dysgedig neu gyrff proffesiynol
- 2019-2023 Ysgrifennydd Cyffredinol, Cymdeithas Ewrop ar gyfer Ymchwil Golwg a Llygaid.
- 2019-2023 Cynrychiolydd ar gyfer Cymdeithas Ewropeaidd ar gyfer Ymchwil Golwg a Llygaid ar Fwrdd EU-EYE ac ar Fwrdd EVERfoundation, ac ar Gynghrair TRANSFORM.
- 2018-2020 Aelod Gwoddedig o Fwrdd Llywio Partneriaeth Gosod Blaenoriaethau Cynghrair James Lind: "Clefydau Mitocondrial Prin".
- 2016 - 2018 Arweinydd Arbenigedd Offthalmoleg Cenedlaethol Cymru.
- 2016 - 2018 Aelod o Banel Arweiniol Arbenigedd y DU ar gyfer Treialon Offthalmoleg.
- 2014 - 2017 Aelod o Bwyllgor Ymchwil Llygaid y DU VISION 2020.
- 2012- 2014 Prif Ymchwilydd Arweiniol a Chydlynydd Consortiwm Llygaid a Golwg Llygoden MRC.
- 2012 - 2017 Aelod o Bwyllgor Llywio, Grŵp Geneteg Llygaid y DU.
- 2012 - 2013 Cynrychiolydd Coleg Brenhinol yr Offthalmolegwyr ar Bwyllgor Llywio Partneriaeth Gosod Blaenoriaethau Cynghrair James Lind: "Colli golwg a Gweledigaeth".
- 2013 Aelod Cyfadran Gwahoddedig, Consortiwm Niwrogyhyrol Ewrop, Naarden, yr Iseldiroedd.
- 2011 - 2016 Ysgrifennydd Rhaglen, Cymdeithas Ewropeaidd ar gyfer Ymchwil Golwg a Llygaid.
- 2009 - 2010 Is-lywydd, Cymdeithas Ewrop ar gyfer Ymchwil Golwg a Llygaid.
- 2004 - 2009 Cadeirydd yr Adran ar gyfer Bioleg Moleciwlaidd / Geneteg / Epidemioleg, Bwrdd Cymdeithas Ewrop ar gyfer Ymchwil Golwg a Llygaid (EVER).
Golygyddiaeth cyfnodolion
- 2013- presennol: Golygydd Cyswllt, Bwrdd Golygyddol Acta Ophthalmologica,
- 2020- presennol: Golygydd Cyswllt Datblygiadau Therapiwtig mewn Clefydau Prin
Golygyddiaeth gwadd o lyfrau neu argraffiadau arbennig o gyfnodolion
- 2013 Golygydd Gwadd ar gyfer Darganfod Cyffuriau Heddiw: Modelau Clefyd
Enghreifftiau eraill o arweinyddiaeth yn y gymuned academaidd
- 2008 a 2011 Aelod o'r rheithgor, Gwobr Ymchwil Offthalmoleg Gwlad Belg.
- 2004 a 2009 Aelod o'r rheithgor, Gwobr Ymchwil Coleg yr Offthalmolegwyr.
Rolau arwain yn y diwydiant
- Aelod Arbenigol o'r Panel, Novartis Gene Therapy ar gyfer RPE65 Leber's congential amaurosis, Llundain 2018
- Aelod Panel Arbenigol, Cadeirydd a Siaradwr Gwadd yn Mitochonrial Optic Neuropathies", Santhera Pharmaceuticals, Prague, 2019
Adolygiad o bapurau ar gyfer cyfnodolion gwyddonol
Rwy'n adolygu papurau ar gyfer cyfnodolion gwyddonol yn rheolaidd, gan gynnwys cyfnodolion offthalmoleg a niwrowyddoniaeth- Brain, Investigative Ophthalmology & Vision Science, Archives of Ophthalmology, The British Journal of Ophthalmology, Eye, Ophthalmic Research, Neuro-offthalmology, Acta Ophthalmologica and Experimental Eye Research a chyfnodolion geneteg- Human Molecular Genetics, American Journal of Human Genetics, Journal of Medical Genetics, Human Genetics, European Journal of Human Genetics a Geneteg Offthalmig.
Rwyf hefyd yn adolygu Ceisiadau am Grant yn rheolaidd ar gyfer cyrff cenedlaethol - Yr MRC, Ymddiriedolaeth Wellcome, Fight for Sight, Cymdeithas Clefyd Macwlaidd, Cymdeithas Cŵn Tywys i'r Deillion, Cronfa Iris, y Ganolfan Ymchwil Llygaid Genedlaethol a chyrff rhyngwladol, gan gynnwys, Sefydliad Gwyddoniaeth Cenedlaethol y Swistir a'r Association Francaise contre les Myopathies.
Meysydd goruchwyliaeth
Myfyrwyr presennol
2019-2023
Ymladd dros Efrydiaeth Golwg Gloria Cimaglia, cyd-oruchwyliwr gyda James Morgan a Pete Williams. Teitl: "NAD mewn niwroamddiffyn glawcoma".
2021-2024
Mariia Grudina, goruchwyliwr sylfaenol Marcela Votruba. Cyd-oruchwylwyr Ben Mead & Malgorzata Rozanowska. Teitl: "Modelau bôn-gelloedd pluripotent a achosir gan bobl ar gyfer astudio a thrin niwropathïau optig mitochondrial".
2021-2024
Ysgoloriaeth Twrcaidd. Esmahan Durmez, cyd-oruchwyliwr gyda Ben Mead Teitl: ""Profi ecsosomau therapiwtig ar gyfer clefyd retinol".
Mae gen i ddiddordeb mewn goruchwylio myfyrwyr PhD ym meysydd:
- Rôl mitocondria mewn niwroddirywiad
- Therapïau newydd ar gyfer niwropathïau optig mitocondrial
- celloedd iPS ar gyfer profi therapi newydd camweithrediad mitochondrial
- Difrod Mitochondrial mewn dirywiad macwlaidd sy'n gysylltiedig ag oedran
- Ansawdd bywyd mewn cleifion â chlefyd nerf retinol ac optig etifeddol, cyfleustodau therapïau newydd
Goruchwyliaeth gyfredol
News articles
Contact Details
+44 29208 70117
Optometreg a Gwyddorau'r Golwg , Ystafell 2.30, Heol Maendy, Cathays, Caerdydd, CF24 4HQ
Prif Adeilad yr Ysbyty, Ystafell Clinig Offthalmoleg, Ysbyty Athrofaol Cymru, Parc y Mynydd Bychan, Caerdydd, CF14 4XN
Themâu ymchwil
Arbenigeddau
- Mitocondria
- Offthalmoleg
- Bioleg foleciwlaidd
- Therapi genynnau a moleciwlaidd
- Treialon clinigol
