Yr Athro Marcela Votruba

Athro ac Anrhydeddus Ymgynghorydd mewn Offthalmoleg

: VotrubaM@caerdydd.ac.uk
: +44 29208 70117
: Optometreg a Gwyddorau'r Golwg , Ystafell Room 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

: Sylwebydd y cyfryngau
: Ar gael fel goruchwyliwr ôl-raddedig

Crynodeb

Mae gan y Grŵp Ymchwil Mitochondria a Gweledigaeth (M Votruba Lab) ddiddordeb yn rôl camweithrediad mitochondrial oherwydd mwtaniad mewn nifer cynyddol o enynnau, ym mhatoffisioleg niwroopathi optig etifeddol. Mae ein dull gweithredu wedi rhoi pwyslais ar gynhyrchu systemau enghreifftiol i astudio colled celloedd ganglion retinol (RGC) a dirywiad retinaidd 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 a Thrwsio (https://www.cardiff.ac.uk/optometry-vision-sciences/research/themes/stem-cells,-regeneration-and-repair).

Mae wedi'i ymgorffori mewn dau grŵp ymchwil amlddisgyblaethol - Niwroddirywiol i Adfywio (https://www.cardiff.ac.uk/research/explore/research-units/n2r) a Therapiwteg Ocwlaidd (https://www.cardiff.ac.uk/research/explore/research-units/ocular-therapeutics).

Fel rhan o'm rôl fel Gwyddonydd Clinigydd, rwyf hefyd yn rheoli cleifion yn Adran Llygaid Ysbyty Athrofaol Cymru gyda chlefydau llygaid etifeddol fel dystrophies retinol etifeddol a niwropathïau optig, gan redeg Clinig Retinol a Chlinig Llygaid Genetig. Rwyf hefyd yn cymryd rhan mewn ymchwil glinigol a threialon masnachol ac academaidd. Fi yw Arweinydd Arbenigedd Offthalmoleg Cenedlaethol HCRW Cymru ac Aelod o Banel Arweiniol Arbenigedd NIHR y DU ar gyfer Offthalmoleg.

Cyn hynny bûm yn Bennaeth yr Ysgol Optometreg a Gwyddorau Golwg am 6 blynedd) (2014-2019).

Trosolwg Ymchwil

Nod fy nodau yw datblygu dealltwriaeth ddyfnach o glefyd llygaid etifeddol ac yn y pen draw defnyddio fy safle fel offthalmolegydd clinigol i ysgogi cymhwyso ymchwil drosiadol yn y maes hwn. Fy mhrif ddiddordeb ymchwil yw pathoffisioleg clefydau nerf retinaidd ac optig etifeddol. Ar hyn o bryd rwy'n ymchwilio i niwropathïau optig etifeddol, sy'n fodel pur o golli celloedd ganglion retinol ynysig. Maent yn dangos rôl ganolog ar gyfer mitocondria ac yn dangos niwroddirywiad blaengar. Celloedd ganglion retinol yw'r celloedd sy'n ffurfio nerf golwg, gan gymryd ysgogiadau o'r retina i'r ymennydd. Atrophy optig amlycaf awtosomal yw'r niwropathi optig etifeddol mwyaf cyffredin. Mae'n cael ei achosi gan dreigladau yn y genyn OPA1, gan arwain at golled weledol, sy'n dechrau gyntaf mewn plant a phobl ifanc. Mae dealltwriaeth glinigol o'r clefyd yn wael, er bod gennym dystiolaeth glinigol a batholegol bod celloedd ganglion retinol yn ddiffygiol yng ngolwg cleifion. Nid oes triniaeth ar gael. Nid yw strategaethau clinigol neu ymchwil confensiynol wedi cael unrhyw effaith glinigol ar y sefyllfa hon eto. Nid yw mecanwaith gweithredu'r protein mutant OPA1 yn hysbys, ond mae cliwiau yn bodoli sy'n awgrymu y gallai siâp neu swyddogaeth organynnau bach yn y gell, mitochondria, fod yn gysylltiedig. Mae mitocondria yn bwysig wrth gynhyrchu ynni yn y gell. Yn dilyn ymlaen o'n gwaith i nodweddu'r ffenoteip clefyd a chlonio'r genyn clefyd, mae fy grŵp wedi dadansoddi sbectrwm treigladau yn y genyn OPA1 a chydberthynas genoteip / ffenoteip. Rydym wedi perfformio astudiaethau swyddogaethol a mynegiant o enyn OPA1 ac wedi asesu ei rôl ehangach mewn niwroopathi optig etifeddol ac rydym yn datblygu systemau enghreifftiol i archwilio mecanweithiau a llwybrau colled RGC ac archwilio a phrofi therapïau newydd.

Gweler y recordiad diweddaraf o Fforwm LHON 2022: www.opticnervenetwork.com

https://faculti.net/visual-improvement-in-patients-with-lebers-hereditary-optic-neuropathy/

Arbenigwr HCRW Ophthalmoleg Arweiniol: https://healthandcareresearchwales.org/votruba

2009

Yu-Wai-Man, P., Davies, V. J., Piechota, M., Cree, L. M., Votruba, M. and Chinnery, P. F. 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)
White, K. E., Davies, V. J., Hogan, V. E., Piechota, M., Nichols, P. P., Turnbull, D. M. and Votruba, M. 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)

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., Erskine, L., Jeffery, G., Bhattacharya, S. S. and Votruba, M. 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

Granse, L., Bergstrand, I., Thiselton, D., Ponjavic, V., Heijl, A., Votruba, M. and Andreasson, S. 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., 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.
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)
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)

2002

Votruba, M., Hungerford, J., Cornes, P. G. S., Mabey, D. and Luthert, P. 2002. Primary monophasic synovial sarcoma of the conjunctiva [Letter]. British Journal of Ophthalmology 86(12), pp. 1453-1454. (10.1136/bjo.86.12.1453)
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)
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.

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)
Votruba, M. 2001. An "overtrained" ophthalmologist responds [Letter]. British Journal of Ophthalmology 85(11), pp. 1394. (10.1136/bjo.85.11.1394)
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)
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)
Bremner, F. D., Tomlin, E. A., Shallo-Hoffmann, J., Votruba, M. and Smith, S. E. 2001. The pupil in dominant optic atrophy. Investigative Ophthalmology and Visual Science 42(3), pp. 675-678.
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.

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., Leary, S., Losseff, N., Bhattacharya, S. S., Moore, A. T., Miller, D. H. and Moseley, I. F. 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

Simunovic, M. P., Votruba, M., Regan, B. C. and Mollon, J. D. 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., Payne, A., Moore, A. T. and Bhattacharya, S. S. 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. 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., Fitzke, F. W., Holder, G. E., Carter, A., Bhattacharya, S. S. and Moore, A. T. 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., 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., 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)
Holder, G. E., Votruba, M., Carter, A. C., Bhattacharya, S. S., Fitzke, F. W. and Moore, A. T. 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)

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)

Research Interests

My research focus is on the role of mitochondrial dynamics in the pathophysiology of neurodegenerative disease. My focus has been inherited optic neuropathy, with an emphasis on generating model systems to study retinal ganglion cell (RGC) loss and inner retinal degeneration, which occurs as a primary phenomenon in a number of human genetic diseases.

We are studying RGC loss and rescue in vitro and in vivo, and the sequelae of this neurodegeneration on inner retina. To this end, we have been studying retinal ganglion cell lines and primary RGCs, utilising siRNA to explore the effect of opa1 knockdown on cell viability and the mechanism of cell death. We are also exploring the role of neuroprotective agents. OPA1 is known to bind to inner mitochondrial membrane, and when mutated it is believed that the normal balance of mitochondrial fusion and fission is disturbed and programmed cell death is initiated by the loss of mitochondrial membrane potential and the release of cytochrome c. We are also investigating the role of the OPA3 gene in both RGC loss and cataract formation. OPA3, like OPA1, is thought to have a role in mitochondrial membrane dynamics, and when mutated in the human, a complex neurodegenerative disease, comprising optic neuropathy secondary to RGC loss, cataract and neuromuscular degeneration, arises. I continue to recruit patients with inherited optic neuropathy for genetic screening.

Figure 2. Dendritic tree arborisation of a single Opa1+/- retinal ganglion cell from murine retina labelled by diolisthics.

Figure 3. Electron micropgraph of mitochondria from a retinal ganglion cell carrying a mutation in OPA1 causing loss of organisation of cristae in the mitochondria (arrow)

Marcela_Votruba p124-126 [298.7 Kb]

INTERNATIONAL INNOVATION - Investigations into genes associated with mitochondrial plasticity; research that will help to inform understanding of eye disease.

Research Alumni

Post- doctoral Research Associates

Dr Vanessa Davies
Dr Ruby Grewel
Dr Andrew Hollins
Dr Kate Powell

Professional Training Scheme

Rebecca Thirgood

Technical Assistant

Elaine Taylor

Summer Students

2005

Marios Sarros. Welcome Trust Summer Scholarship. Mutation screening in inherited optic neuropathy.

2006

Yip WanFen. Welcome Trust Summer Scholarship. Histology of the eye in an opa1 mutant mouse.

2007

Laura Byrne. Welcome Trust Summer Scholarship. Longitudinal phenotyping in ADOA and new aspects of the phenotype- circadian rhythm and cognitive function.

2011

Amanda Mui. Drp1 visual and neurological phenotyping.

2012

Rebecca Watts. Nuffield Summer Studentship. Mitochondrial Eye Disease.

Grant funding

2003- 2007	MRC Clinician Scientist Fellowship ( £750,000 over 4 years). M Votruba. Sponsor M Boulton. "The pathophysiology of inherited optic neuropathy".
2005	Wellcome Trust Summer Studentship ( £1800). M Votruba. "Human mutations in optic atrophy". (Marrios Sarros)
2006-2009	MRC Research Grant ( £200,005 over 3 years). M Votruba, M Boulton, M Wride. "OPA3: a novel gene and mechanism in cataractogenesis". Funding RA1A
2006-2008	RoFAR Research Award ( £86,207 over 2 years). M Votruba. "Erythropoietin neuroprotection in retinal neurodegeneration". Funding RA1A
2006	Wellcome Trust Summer Studentship ( £1360). M Votruba. $acirc; Morphological assessment of retina in models of hereditary optic neuropathy.$acirc; (Yip WanFen).
2007-2009	BBSRC Research Grant ( £255,955 over 2 years). J Morgan, W Drexler, M Votruba, M Wride. $acirc; In vitro detection of neuronal programmed cell death by ultrahigh resolution optical coherence tomography.$acirc;
2007	Wellcome Trust Summer Studentship ( £1400). M Votruba. $acirc; Longitudinal phenotyping in ADOA and new aspects of the phenotype- circadian rhythm and cognitive function.$acirc; (Laura Byrne).
2008-2011	MRC Research Grant ( £508,864 FEC over 3 years). M Votruba. "Mitochondrial shaping proteins in models of optic neuropathy ". Funding RA Grade 6 and Technician Grade 4.
2012	Nuffield Foundation Science Bursary for Schools & Colleges: awarded to Rebecca Watts, Supervisor: M Votruba. $acirc; Histological assessment of tissue from Opa1 mutant mouse.$acirc; £1200
2012-2013	Fight for Sight Dr Hans and Mrs Gertrude ~Hirsch Grant Award ( £15,000). M Votruba. $acirc; Find the missing genes: next generation sequencing to accelerate the pace of disease gene discovery in patients with inherited optic neuropathy$acirc; .
2013-2014	Thermo Fisher Inspire Award ( £5000). Mechanism of neurodegeneration in mice with mitochondrial dysfunction.
2013-2016	Fight for Sight Research Studentship ( £100,000). M Votruba. $acirc; Light therapy for optic neuropathy$acirc; .

2013-2014	National eye Research Centre. £60,000. M Votruba. "Idebenone in mitochondrial optic neuropathy".
2013-2015	NIHR Rare Disease Translational Research Collaboration ( £200,000). P Yu-Wai-Man, M Votruba, AT Moore. $acirc; Mitochondrial optic neuropathies$acirc; .

Invited Lectures

2008

OPA1 and inherited neuropathy. ARVO Genetics Workshop, Fort Lauderdale, Florida, USA
Mentoring and the Clinician Scientist Experience. Academy of Medical Sciences Meeting, Taunton
Genetics of optic nerve disease. Midlands Ophthalmological Society, Leicester
Three Blind Mice. British Eye Study Group, Saunton Sands, Devon

2009

OPA1 and OPA3 Mice in neurodegeneration. Cardiff Neuroscience Centre, Cardiff University
Mouse models of inherited optic neuropathy. Keystone Symposium on Mitochondrial Dynamics and Physiology. Whistler, British Columbia, Canada
Genetics of Optic Atrophy. The Royal College of Ophthalmologists Annual Congress, B$acirc; ham

2010

Nuclear gene OPA1 and OPA3 and mitochondrial function in optic neuropathy. Leeds Institute of Molecular Medicine
Mitochondrial shaping proteins in neurodegenerative diseases of the eye. Oxford/ Bristol/ Cardiff Alliance Meeting, Oxford
Mitochondrial plasticity and inner retinal degeneration. Vision Research Meeting, Insights into retinal function, repair and angiogenesis, Bristol
Opa1- a story of mitochondrial plasticity and inner retinal degeneration. Tennent Institute of Ophthalmology, Glasgow

2011

Assessment and diagnosis of optic neuropathies. Clinical Neurology Meeting, University Hospital of Wales
Personal experience of mentoring. Academy of Medical Sciences Mentoring Symposium, Cardiff
A clinical academic career. Women Professors Forum, Cardiff University

2012

Mitochondrial eye disease. UK Eye Genetics Group. University of Bristol
Mouse models of mitochondrial optic neuropathy. For: SIG Mitochondrial dysfunction and retinal ganglion cell loss in optic neuropathies $acirc; from disease mechanisms to therapeutic strategies. ARVO, May 2012
Optic neuropathies. For: European Professors of Ophthalmology, Leuven, June 2012

2013

European Neuromuscular Consortium, Naarden, Holland
Opa1 ocular and CNS effects. Mitochondrial Research Group, John Radcliffe Hospital, Oxford

Research Collaborators:

International

Professor Anne A. Knowlton, M.D., Professor of Medicine and Medical Pharmacology, Molecular & Cellular Cardiology, University of California, Davis, California, USA.

Professor Don Newmeyer, PhD, La Jolla Institute for Allergy and Immunology, La Jolla, CA , USA.

Professor Peter Nuernberg, PhD, Cologne Centre for Genomics, University of Cologne, Germany.

National

Dr Patrick Yu-Wai-Man, MRC Clinician Scientist, Mitochondrial Research Group, The Medical School$acirc; ¨University of Newcastle upon Tyne,

Professor Patrick Chinnery, PhD FRCP, Wellcome Senior Fellow in Clinical Science, Professor of Neurogenetics and Honorary Consultant, Mitochondrial Research Group, The Medical School$acirc; ¨University of Newcastle upon Tyne

Professor Ron Douglas, Professor of Visual Science: Deputy Head of Department, City University London

Professor Jo Poulton, PhD MRCP, Professor of Mitochondrial Genetics, John Radcliffe Hospital, University of Oxford

Professor Tim Wells, PhD, School of Bioscience, Cardiff University.

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.

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

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.

Myfyrwyr presennol

2019-2022

Ymladd dros Efrydiaeth Golwg Gloria Cimaglia, cyd-oruchwyliwr gyda James Morgan a Pete Williams. Teitl: "NAD mewn niwroamddiffyn glawcoma".

2021-2024

Mariia Grudina, goruchwyliwr Cynradd Marcela Votruba. Cyd-oruchwylwyr Ben Mead & Malgorzata Rozanowska. Teitl: "Modelau bôn-gelloedd pluripotent a achosir gan bobl ar gyfer astudio a thrin niwropathïau optig mitocondrial".

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

Themâu ymchwil

Arbenigeddau

Mitocondria
Offthalmoleg
Bioleg foleciwlaidd
Therapi genynnau a moleciwlaidd
Treialon clinigol

Yr Athro Marcela Votruba

Trosolwyg

Crynodeb

Trosolwg Ymchwil

Cyhoeddiad

2022

2021

2020

2019

2018

2017

2016

2015

2014

2013

2012

2011

2010

2009

2008

2007

2006

2004

2003

2002

2001

2000

1999

1998

1997

1994

1993

Articles

Ymchwil

Research Interests

Research Alumni

Post- doctoral Research Associates

Professional Training Scheme

Technical Assistant

Summer Students

Grant funding

Invited Lectures

Research Collaborators:

International

National

Addysgu

Undergraduate Optometry Teaching

Postgraduate Teaching in Ophthalmology

Bywgraffiad

University Education

Academic And Professional Qualifications

Awards And Honours

Undergraduate Distinctions

Postgraduate Prizes

Research Fellowships

Appointments

Present Substantive Appointment

Previous Substantive Appointments

Teaching

Undergraduate Optometry Teaching

Postgraduate Teaching in Ophthalmology

Administration

Other Academic Activities

External Committees:

Innovation and Engagement:

Anrhydeddau a dyfarniadau

Undergraduate Distinctions

Postgraduate Prizes

Research Fellowships

Aelodaethau proffesiynol

Present Substantive Appointment

Previous Substantive Appointments

Safleoedd academaidd blaenorol

Pwyllgorau ac adolygu

Other Academic Activities

External Committees

Meysydd goruchwyliaeth

Myfyrwyr presennol

Mae gen i ddiddordeb mewn goruchwylio myfyrwyr PhD ym meysydd:

Goruchwyliaeth gyfredol