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Professor Gwyneth Farrar

Professor of Ocular Genetics (Genetics)
Professor of Ocular Genetics (Trinity Inst. of Neurosciences (TCIN))
      
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Professor Gwyneth Farrar

Professor of Ocular Genetics (Genetics)

 Jane.Farrar@tcd.ie

 3531896 3695/3695

Professor of Ocular Genetics (Trinity Inst. of Neurosciences (TCIN))


G Jane Farrar is Professor In and current Head of School of Genetics and Microbiology. Jane undertook an undergraduate degree in Genetics (1985, TCD), PhD in Human Genetics (1989, TCD) and diploma in management for scientists and engineers (1995, TCD). Jane has been actively involved for decades in education and training of TCD undergraduate and postgraduate students, was co-ordinator of the Human Genetics degree for 16 years (2005-2021) and DUTL for the School from 2013-2016. Jane has trained many PhD students and post-doctoral scientists and mentored many senior research and clinical scientists and ophthalmology fellows. Jane enjoys disseminating scientific ideas to primary and secondary school students, patient groups and the general public and regards it a privilege to disseminate truly amazing concepts in human genetics to diverse audiences. Jane Farrar has decades of experience in the field of inherited ocular diseases focusing on retinal degenerations (IRDs) resulting in key outcomes and discoveries regarding these devastating sight loss disorders for patients, generating significant funding (approx. 20M), 160+ publications (h-index 50, google scholar), families of granted patents, two campus companies, opportunities to sit on multiple national and international boards inter alia Foundation Fighting Blindness (US), Spark Therapeutics, Royal Victoria Eye and Ear Hospital Dublin, editorial boards, organising committees for international conferences, among others. Her primary research interests are focused on elucidation of the genetic and molecular pathogenesis of ocular disorders and development of cell and gene therapies. Highlights include inter alia: *Identified the first dominantly inherited IRD genes globally illuminating the immense genetic heterogeneity in IRDs and providing a platform for multiple EU/US collaborations/networks. *Founder of Target5000 study and with team elucidated the genetic architecture of IRDs in the Irish population using next generation sequencing of 2,500+ cases, highlighting novel aspects of the genetics of ocular disease in Ireland. The study has significantly added to knowledge globally of the enormous diversity of causes of vision loss. *Farrar team was the first globally to report perturbation of a new class of small RNA molecule (microRNAs) in IRDs intensifying interest in microRNAs and ocular disease, a growing field in the ocular R&D community. *Farrar team brought adeno associated virus (AAV) technologies to TCD (2004) and to our knowledge was the first team working with AAV in Ireland. Today, AAV is a key tool utilised for gene therapies in academia and pharma. *Farrar team generated innovative gene-based therapeutics for IRDs using AAV for gene delivery for dominant and recessive IRDs resulting in publications, patents, licences, service agreements, among other outputs. *Jane was Founder, Director, Interim CEO and CSO of Genable Technologies, a TCD company focused on AAV ocular gene therapies, acquired by Spark Therapeutics 2016 (Roche, 2019). *Farrar team with collaborators were first globally to show AAV-mediated gene delivery and rescue of disease in patient-derived retinal organoids (3-D retinas generated from skin fibroblasts). *Farrar team highlighted the vital role of perturbed cellular bioenergetics/mitochondrial dysfunction in ocular disease representing unifying disease features relevant to many ocular disorders including AMD and glaucoma providing novel therapeutic targets. *Therapeutic strategies targeting mitochondrial dysfunction form the basis of a new spin-out, Vzarii Therapeutics (2023). *Member of the National Cell, Gene and Vaccine Forum which in 2019 produced the first white paper to expedite development of advanced therapy medical products (ATMPs) in Ireland, an area of intense interest to patients, academics, government and pharma.
  Brittle bone disease   Inherited retinal diseases   Knockout & Transgenic animal models simulating human disease   Neuronal survival mechanisms   Novel approaches to gene therapy
Details Date
Member of the Scientific Advisory Board of Spark Therapeutics, plc, US. Role in reviewing progress in the pipeline of AAV gene therapies being developed by the Company. 2015
Member of the Board of the Royal Victoria Eye and Ear Hospital. Role involves reviewing current operation of the hospital, and considering strategic development plans for the future. 2021
Member of the Scientific Advisory Board of Foundation Fighting Blindness, US. Role involves reviewing grant applications and making funding decisions. 2015
Member of the Editorial Board of Progress in Retinal Eye Research. Role in reviewing and editing scientific publications for the Journal. 2023
Member of the National Cell, Gene and Vaccine Forum. Review of infrastructure in Ireland in academia, the health service and industry to expedite discovery and development of advance therapeutic medicinal products (ATMMPs). Publication of 1st white paper promoting ATMP generation and manufacture in Ireland. 2019
Member of the External Review Board for the Institut de la Vision, Paris. Role in reviewing activities and productivity of all PIs and their teams in the Institut. 2023
Member of the External Advisory Board for the UshTher EU Programme. Role in reviewing progress in the development of a gene therapy for Usher syndrome. 2018
External review panel for Sparing Vision, Ltd. Role in reviewing clinical trial design for clinical trials planned and sponsored by Sparing Vision. 2024
External Examiner for PhD theses: University College London University of Leeds University of Aberdeen University College Cork University of Galway 2000
Member of the Scientific Advisory Board, Retina UK Role involves reviewing of grant applications. Considering funding strategies for the organisation. 2017
Member of the Royal Irish Academy Health and Life Sciences Committee. Role in promoting Irish science to government, the public via workshops, social media channels, while papers. 2018
Member of the Board of Trinity Institute of Neuroscience (TCIN). Role in reviewing operational and scientific aspects of the Institute. 2013
Details Date From Date To
Member of the Board of the Royal Victoria Eye and Ear Hospital, Dublin, Ireland. 2021 Present
Member of the Retina UK Scientific Advisory Board, UK. 2017 Present
Member of Foundation Fighting Blindness Scientific Advisory Board, United States of America (US). 2015 Present
Member of the External Scientific Advisory Board for the EU UshTher Gene Therapy Consortium, headquartered Naples, Italy. 2018 2022
Member of the National Cell, Gene and Vaccine Forum, Ireland. 2019 Present
Member of the Board of the Trinity Institute of Neuroscience (TCIN), Dublin. 2013 Present
Member of the External Review Board for the Institut de la Vision, Paris, France. 2023 2023
Member of the Board of Genable Technologies 2004 2016
Member of the Royal Irish Academy Life and Health Sciences Committee 2018 2023
Member of the Scientific Advisory Board of Spark Therapeutics, Philadelphia, US. 2015 2018
Member of the Royal Irish Academy (RIA) of the Genomics working group of the RIA Life and Health Sciences committee 2019 2023
Member of the Association for Research in Vision and Ophthalmology (ARVO) 1993 Present
Member of Fighting Blindness Ireland Research Strategy Group - Academic Lead 2019 2022
Member of the Board of Vzarii Therapeutics 2023 Present
Quinodoz, Mathieu and Rodenburg, Kim and Cvackova, Zuzana and Kaminska, Karolina and de Bruijn, Suzanne E. and Iglesias-Romero, Ana Belén and Boonen, Erica G. M. and Ullah, Mukhtar and Zomer, Nick and Folcher, Marc and Bijon, Jacques and Holtes, Lara K. and Tsang, Stephen H. and Corradi, Zelia and Freund, K. Bailey and Shliaga, Stefanida and Panneman, Daan M. and Hitti-Malin, Rebekkah J. and Ali, Manir and AlTalbishi, Ala†a and Andréasson, Sten and Ansari, Georg and Arno, Gavin and Astuti, Galuh D. N. and Ayuso, Carmen and Ayyagari, Radha and Banfi, Sandro and Banin, Eyal and Barakat, Tahsin Stefan and Barboni, Mirella T. S. and Bauwens, Miriam and Ben-Yosef, Tamar and Bernard, Virginie and Birch, David G. and Biswas, Pooja and Blanco-Kelly, Fiona and Bocquet, Beatrice and Boon, Camiel J. F. and Branham, Kari and Bremond-Gignac, Dominique and Britten-Jones, Alexis Ceecee and Bujakowska, Kinga M. and Burin des Roziers, Cyril and Cadena, Elizabeth L. and Calzetti, Giacomo and Cancellieri, Francesca and Cattaneo, Luca and Chadderton, Naomi and Charbel Issa, Peter and Coutinho-Santos, Luísa and Daiger, Stephen P. and De Baere, Elfride and De Bruyne, Marieke and de la Cerda, Berta and De Roach, John N. and De Zaeytijd, Julie and Derks, Ronny and Dhaenens, Claire-Marie and Dudakova, Lubica and Duncan, Jacque L. and Farrar, G. Jane and Feltgen, Nicolas and Fenner, Beau J. and Fernández-Caballero, Lidia and Ferraz Sallum, Juliana M. and Gana, Simone and Garanto, Alejandro and Gardner, Jessica C. and Gilissen, Christian and Gonzàlez-Duarte, Roser and Goto, Kensuke and Griffiths-Jones, Sam and Haack, Tobias B. and Haer-Wigman, Lonneke and Hardcastle, Alison J. and Hayashi, Takaaki and Héon, Elise and Hoefsloot, Lies H. and Hoischen, Alexander and Holtan, Josephine P. and Hoyng, Carel B. and Ibanez, Manuel Benjamin B. and Inglehearn, Chris F. and Iwata, Takeshi and Jensson, Brynjar O. and Jones, Kaylie and Kalatzis, Vasiliki and Kamakari, Smaragda and Karali, Marianthi and Kellner, Ulrich and Klaver, Caroline C. W. and Knézy, Krisztina and Koenekoop, Robert K. and Kohl, Susanne and Kominami, Taro and KÃŒhlewein, Laura and Lamey, Tina M. and Leibu, Rina and Leroy, Bart P. and Liskova, Petra and Lopez, Irma and López-Rodríguez, Victor R. de J. and Mahieu, Quinten and Mahroo, Omar A. and Manes, Gaël and Mansard, Luke and Martín-Gutiérrez, M. Pilar and Martins, Nelson and Mauring, Laura and McKibbin, Martin and McLaren, Terri L. and Meunier, Isabelle and Michaelides, Michel and Millán, José M. and Mizobuchi, Kei and Mukherjee, Rajarshi and Nagy, Zoltán Zsolt and Neveling, Kornelia and OÅ'dak, Monika and Oorsprong, Michiel and Pan, Yang and Papachristou, Anastasia and Percesepe, Antonio and Pfau, Maximilian and Pierce, Eric A. and Place, Emily and Ramesar, Raj and Ramond, Francis and Rasquin, Florence Andrée and Rice, Gillian I. and Roberts, Lisa and Rodríguez-Hidalgo, María and Ruiz-Ederra, Javier and Sabir, Ataf H. and Sajiki, Ai Fujita and Sánchez-Barbero, Ana Isabel and Sarma, Asodu Sandeep and Sangermano, Riccardo and Santos, Cristina M. and Scarpato, Margherita and Scholl, Hendrik P. N. and Sharon, Dror and Signorini, Sabrina G. and Simonelli, Francesca and Sousa, Ana Berta and Stefaniotou, Maria and Stefansson, Kari and Stingl, , De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa, Nature Genetics, 58, (1), 2026, p169 - 179 , Notes: [Cited by: 4; All Open Access; Green Open Access; Hybrid Gold Open Access], Journal Article, PUBLISHED  DOI
Stephenson K.A.J, Zhu J, Conway M, Moran B, Dockery A, Whelan L, Turner J, O†Byrne J.J, Flitcroft D.I, Farrar G.J, Keegan D.J, Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3), Genes, 16, (12), 2025, Journal Article, PUBLISHED  DOI  URL
Finnegan L.K, Ridgeway A.R, Chadderton N, Farrar G.J, The Challenge of VUS in Inherited Retinal Degeneration: Insight from Functional Studies, Advances in experimental medicine and biology, 1468, 2025, p51 - 55, Journal Article, PUBLISHED  DOI  URL
Ridgeway A.R, Shortall C, Finnegan L.K, Long R, Matthews E, Dockery A, KopÄ iÄ E, Whelan L, Kirk C, Silvestri G, Turner J, Keegan D.J, Millington-Ward S, Chadderton N, Duignan E, Kenna P.F, Farrar G.J, Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy, Genes, 16, (1), 2025, Journal Article, PUBLISHED  DOI  URL
Moekotte L, de Boer J.H, Hiddingh S, de Ligt A, Nguyen X.-T.-A, Hoyng C.B, Inglehearn C.F, McKibbin M, Lamey T.M, Thompson J.A, Chen F.K, McLaren T.L, AlTalbishi A, Panneman D.M, Boonen E.G.M, Banfi S, Bocquet B, Meunier I, De Baere E, Koenekoop R, OÅ'dak M, Rivolta C, Roberts L, Ramesar R, StrupaitÄ--Å ileikiene R, Kohl S, Farrar G.J, van Vugt M, van Setten J, Roosing S, van den Born L.I, Boon C.J.F, van Genderen M.M, Kuiper J.J.W, Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies, Investigative Ophthalmology and Visual Science, 66, (2), 2025, Journal Article, PUBLISHED  DOI  URL
Ella Kopcic; Rebekkah Hitti-Malin; Laura Whelan; Daan Panneman; Erica G.M. Boonen; Emma Duignan; Paul Kenna; David J Keegan; Laura K Finnegan; Frans Cremers; G. Jane Farrar, Novel findings from a smMIPs sequencing study of 223 individuals from an Irish cohort with macular degenerations, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2024, 65, (7), 2024, Conference Paper, PUBLISHED
Sophia Millington-Ward , Arpad Palfi, Ciara Shortall, Laura K. Finnegan, Ethan Bargroff, Iris J. M. Post, John Maguire, Mustapha Irnaten, Colm O"Brien, Paul F. Kenna, Naomi Chadderton, G. Jane Farrar., AAV-NDI1 Therapy Provides Significant Benefit to Murine and Cellular Models of Glaucoma, Int. J. Mol. Sci. 2024, 25, 8876, 25, 2024, p8876 - 8893, Journal Article, PUBLISHED  URL
Cornelis SS, IntHout J, Runhart EH, Grunewald O, Lin S, Corradi Z, Khan M, Hitti-Malin RJ, Whelan L, Farrar GJ, Sharon D, van den Born LI, Arno G, Simcoe M, Michaelides M, Webster AR, Roosing S, Mahroo OA, Dhaenens CM, Cremers FPM; Study Group, Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis, JAMA Ophthalmol . 2024 May 1;142(5):463-471., 142, (5), 2024, p463 - 471, p10.1001/jamaophthalmol.2024.06 , Journal Article, PUBLISHED  URL
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glava" D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, O"dak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM., Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes, Biomolecules . 2024 Mar 19;14(3):367., 14, (3), 2024, p367 - 387, Journal Article, PUBLISHED  URL
Whelan, L. and Dockery, A. and Stephenson, K.A.J. and Zhu, J. and KopÄ iÄ , E. and Post, I.J.M. and Khan, M. and Corradi, Z. and Wynne, N. and O†Byrne, J.J. and Duignan, E. and Silvestri, G. and Roosing, S. and Cremers, F.P.M. and Keegan, D.J. and Kenna, P.F. and Farrar, G.J., Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients, Scientific Reports, 13, (1), 2023, Journal Article, PUBLISHED  TARA - Full Text  DOI
  

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Palfi A, Chadderton N, Finnegan LK, Carrigan M, Cassidy L, Humphries P, Kenna PF, Millington-Ward S, Farrar GJ., Ndi1 gene therapies for the treatment of retinal degenerations, 2022, Conference Paper, PUBLISHED
Millington-Ward S, Palfi A, Finnegan L, Post I, Stitt A, Kenna PF, Chadderton N, Farrar GJ.., Retina 2022, 2022, Conference Paper, PUBLISHED
Palfi A, Chaddertin N, Millington-Ward S, Finnegan L, Kenna PF, Farrar GJ., Efficient targeting of retinal ganglion cells and photoreceptors with a novel adeno associated virus, Retina 2021, 2021, Conference Paper, PUBLISHED
Post I, Millington-Ward S, Chadderton N, Nixon R, Palfi A, Farrar GJ., AAV-mediated NDI1 supplementation in an chemically induced cell model of oxidtave stress, Potsdam, Germany, 2021, Conference Paper, PUBLISHED
Chadderton N, Farrar GJ, Hanlon K, Kenna PF, Palfi A, Millington-Ward S., 'Retinal Promoter And Uses Thereof', Murgitroyd, 16/643534, 2021, 4 September 2024, Patent, SUBMITTED
Arpad Palfi, Adlet Yesmambetov, Naomi Chadderton, Sophia Millington-Ward, Pete Humphries, Karsten Hokamp, Paul Kenna, G. Jane Farrar, Inner retina expression of Tulp1 may contribute to unsuccessful gene replacement therapy targeting photoreceptors in Tulp1-/- mice, POSDAM, Germany, 2020, Conference Paper, PUBLISHED
National Cell Gene and Vaccine Forum, The case for cell and gene therapy manufacturing in Ireland, 2019, Report, PUBLISHED
Arpad Palfi; Sophia Millington-Ward; Naomi Chadderton; Karsten Hokamp; Stefanie M Hauck; Marius Ueffing; Sebastian Vencken; Catherine Greene; Paul Kenna; Jane Farrar, MiR-182 and miR-96 co-regulate Rac1 expression in the mouse retina, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2015, 57, (12), 2015, Conference Paper, PUBLISHED
Pete Humphries, Marian M Humphries, Lawrence C S Tam, G Jane Farrar, Paul F Kenna, Mathew Campbell, Anna-Sophia Kiang., Hereditary retinopathies: Progress in development of genetic and molecular therapies, Springer, 2012, Book, PUBLISHED
Gwyneth Jane Farrar, Sophia Millington-Ward, Naomi Chadderton, Mathew Alan Carrigan, Paul Kenna, 'Variants of yeast NDI1 gene, and uses thereof in the treatment of disease associated with mitochondrial dysfunction', Murgitroyd, 10220102, 2012, 2 September 2024, Trinity College Dublin, Notes: [Granted US patent Limited claims licensed for specific indications], Patent, SUBMITTED

  


Award Date
Trinity Innovation Awards 2017 " Celebrating Innovative Research 2017
SFI - Best Reported Impact Award 2018
Wellcome Trust University Award Fellowship 1997
Fellow Trinity College Dublin (FTCD) 2006
Nominated/shortlisted for Royal Irish Academy/American Chamber of Commerce, US-Ireland Research Innovation Award 2017
Geraldine Duggan Award 2022
Research summary and evidence of the transformational nature of my research and reputation as a world leader: I have been an international leader in the field of ocular diseases for decades focusing on inherited retinal degenerations (IRDs) resulting in novel discoveries transforming our understanding globally regarding devastating sight loss disorders for patients and the scientific community. Outcomes include generating significant research funding (20M; 16M since last promotion), 160+ publications in Nature, Science, Molecular Therapy, Genome Biology, others (h-index 50, google scholar), families of granted patents, two campus companies (raised additional 6M VC finance), opportunities to sit on multiple national and international boards inter alia Foundation Fighting Blindness US; Spark Therapeutics US; Retina UK; Institut de la Vision, France; UshTher, Italy; Royal Victoria Eye and Ear Hospital, Dublin; National Cell, Gene and Vaccine Forum; editorial boards, organising committees for international conferences, most recently Chair of Retinal International World Congress, among others. I have trained 25 postgraduate students to completion; currently have 3 PhD students and 4 post-doctoral scientists. My primary research interests are focused on elucidation of molecular pathogenesis of ocular disorders and development of groundbreaking therapies for ocular disease, focusing on AAV for gene delivery. My passion and next goal is development of overarching gene-agnostic therapies for retinal degenerations supported via 2024 successful awards (1.6M) plus additional applications. Seminal findings from my research that have transformed the scientific landscape include: Identified first dominantly inherited IRD genes globally, illuminating immense genetic heterogeneity in IRDs - providing a platform for EU/US collaborations/networks. Founded Target5000 to elucidate the genetic architecture of IRDs using next generation sequencing (2,500+ cases), providing knowledge globally of the diversity of causes of vision loss - facilitating EU/US collaborations/networks. First globally to report perturbation of a new class of RNA molecule (microRNAs) in IRDs intensifying interest in microRNAs and ocular disease, now a rapidly growing field. First to establish adeno-associated virus (AAV) technologies in TCD (2004) and to our knowledge the first team working with AAV in Ireland. Today, AAV is a key gene delivery vector used in academia and pharma. Generated innovative gene-based therapeutics using AAV for delivery for dominant and recessive IRDs resulting in publications, patents, licenses and service agreements. Founder, Director, Interim CEO and CSO of Genable Technologies, a TCD company focused on ocular gene therapies, raised 6M VC finance, acquired Spark Therapeutics 2016. First globally with collaborators to demonstrate AAV-mediated gene delivery and rescue of disease in patient-derived retinal organoids (3-D retinas generated from skin fibroblasts). Highlighted vital role of mitochondrial dysfunction in ocular disease representing unifying disease features relevant to age-related macular degeneration and glaucoma providing novel therapeutic targets. Therapeutic strategies targeting mitochondrial dysfunction form basis for new spin-out, Vzarii Therapeutics (2023). When I started my PhD studies, 3 IRD genes were implicated. Today, 350+ IRD genes have been identified. Notably, in Caucasians approx. 1 in 3 people carry an inherited mutation in an IRD gene. My research has been part of a revolution in our global understanding of IRDs and development of therapies.