Professor Gwyneth Farrar
Research Professor, Genetics
Research Professor, Trinity Inst. of Neurosciences (TCIN)
Biography
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.
Publications and Further Research Outputs
Peer-Reviewed Publications
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
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
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
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
Stephenson, K.A.J. and Whelan, L. and Zhu, J. and Dockery, A. and Wynne, N.C. and Cairns, R.M. and Kirk, C. and Turner, J. and Duignan, E.S. and Oâ Byrne, J.J. and Silvestri, G. and Kenna, P.F. and Farrar, G.J. and Keegan, D.J., Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review, Investigative Ophthalmology and Visual Science, 64, (10), 2023
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 Oâ 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
Millington-Ward, S. and Chadderton, N. and Finnegan, L.K. and Post, I.J.M. and Carrigan, M. and Nixon, R. and Humphries, M.M. and Humphries, P. and Kenna, P.F. and Palfi, A. and Farrar, G.J., RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models, International Journal of Molecular Sciences, 24, (4), 2023
de Bruijn, S.E. and Rodenburg, K. and Corominas, J. and Ben-Yosef, T. and Reurink, J. and Kremer, H. and Whelan, L. and Plomp, A.S. and Berger, W. and Farrar, G.J. and Ferenc Kovács, à . and Fajardy, I. and Hitti-Malin, R.J. and Weisschuh, N. and Weener, M.E. and Sharon, D. and Pennings, R.J.E. and Haer-Wigman, L. and Hoyng, C.B. and Nelen, M.R. and Vissers, L.E.L.M. and van den Born, L.I. and Gilissen, C. and Cremers, F.P.M. and Hoischen, A. and Neveling, K. and Roosing, S., Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal diseaseâ^'associated genes, Genetics in Medicine, (100345), 2023
Chadderton, N. and Palfi, A. and Maloney, D.M. and Carrigan, M. and Finnegan, L.K. and Hanlon, K.S. and Shortall, C. and Oâ Reilly, M. and Humphries, P. and Cassidy, L. and Kenna, P.F. and Millington-Ward, S. and Farrar, G.J., Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction, Pharmaceutics, 15, (2), 2023
Corradi, Z. and Khan, M. and Hitti-Malin, R. and Mishra, K. and Whelan, L. and Cornelis, S.S. and Hoyng, C.B. and KÀmpjÀrvi, K. and Klaver, C.C.W. and Liskova, P. and Stöhr, H. and Weber, B.H.F. and Banfi, S. and Farrar, G.J. and Sharon, D. and Zernant, J. and Allikmets, R. and Dhaenens, C.-M. and Cremers, F.P.M., Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability, Human Genetics and Genomics Advances, 4, (4), 2023
Reurink, J. and Weisschuh, N. and Garanto, A. and Dockery, A. and van den Born, L.I. and Fajardy, I. and Haer-Wigman, L. and Kohl, S. and Wissinger, B. and Farrar, G.J. and Ben-Yosef, T. and Pfiffner, F.K. and Berger, W. and Weener, M.E. and Dudakova, L. and Liskova, P. and Sharon, D. and Salameh, M. and Offenheim, A. and Heon, E. and Girotto, G. and Gasparini, P. and Morgan, A. and Bergen, A.A. and ten Brink, J.B. and Klaver, C.C.W. and TranebjÊrg, L. and Rendtorff, N.D. and Vermeer, S. and Smits, J.J. and Pennings, R.J.E. and Aben, M. and Oostrik, J. and Astuti, G.D.N. and Corominas Galbany, J. and Kroes, H.Y. and Phan, M. and van Zelst-Stams, W.A.G. and Thiadens, A.A.H.J. and Verheij, J.B.G.M. and van Schooneveld, M.J. and de Bruijn, S.E. and Li, C.H.Z. and Hoyng, C.B. and Gilissen, C. and Vissers, L.E.L.M. and Cremers, F.P.M. and Kremer, H. and van Wijk, E. and Roosing, S., Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction, Human Genetics and Genomics Advances, 4, (2), 2023
Paul F Kenna; Emma Duignan; Laura Whelan; Ciara Shortall; G.Jane Farrar, A novel KCNV2 variant in cone dystrophy with supernormal rod response (CDSRR) - Evidence for pathogenicity, Investigative Ophthalmology and Visual Science (ARVO), ARVO 2022, 63, (7), 2022
Rebekkah J Hitti-Malin; Susanne Roosing; Claire-Marie Dhaenens; Anneke I Den Hollander; G.Jane Farrar; Daan Panneman; Erica G.M Boonen; Laura de Rooij; Mariana Guimaraes Ramos; Maartje van de Vorst; Bart de Koning; Christian Gilissen; Alexander Hoischen; Frans P Cremers, Single-molecule Molecular Inversion Probes allow cost-effective targeted sequencing of all genes and loci associated with macular diseases., Investigative ophthalmology and visual science (IOVS), ARVO 2022, 63, (7), 2022
Kirk A J Stephenson , Julia Zhu , Adrian Dockery , Laura Whelan , Tomás Burke Jacqueline Turner , James J O'Byrne, G Jane Farrar, David J Keegan, Clinical and genetic re-evaluation of inherited retinal degeneration pedigrees following initial negative findings on panel-based next generation sequencing, Investigative ophthalmology and visual science (IOVS), ARVO 2022, 2022, 63, (7), 2022
Velde, H.M. and Reurink, J. and Held, S. and Li, C.H.Z. and Yzer, S. and Oostrik, J. and Weeda, J. and Haer-Wigman, L. and Yntema, H.G. and Roosing, S. and Pauleikhoff, L. and Lange, C. and Whelan, L. and Dockery, A. and Zhu, J. and Keegan, D.J. and Farrar, G.J. and Kremer, H. and Lanting, C.P. and Damme, M. and Pennings, R.J.E., Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants, Human Genetics, 2022
Laura K Finnegan, Naomi Chadderton, Paul F Kenna, Arpad Palfi, Michael Carty. Andrew G Bowie, Sophia Millington-Ward, G Jane Farrar, Genetic deletion of Sarm1 confers functional protection in an in vivo mouse model of retinal ganglion cell degeneration, 30, (1-2), 2022
O'Connell, A. and Zhu, J. and Stephenson, K.A.J. and Whelan, L. and Dockery, A. and Turner, J. and O'Byrne, J.J. and Farrar, G.J. and Keegan, D., MFRP -Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report, Case Reports in Ophthalmology, 13, (3), 2022, p1015-1023
Hitti-Malin, R.J. and Dhaenens, C.-M. and Panneman, D.M. and Corradi, Z. and Khan, M. and den Hollander, A.I. and Farrar, G.J. and Gilissen, C. and Hoischen, A. and van de Vorst, M. and Bults, F. and Boonen, E.G.M. and Saunders, P. and Roosing, S. and Cremers, F.P.M., Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases, Human Mutation, 43, (12), 2022, p2234-2250
Fadaie, Z. and Whelan, L. and Dockery, A. and Li, C.H.Z. and Van Den Born, L.I. and Hoyng, C.B. and Gilissen, C. and Corominas, J. and Rowlands, C. and Megaw, R. and Lampe, A.K. and Cremers, F.P.M. and Farrar, G.J. and Ellingford, J.M. and Kenna, P.F. and Roosing, S., BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa, Journal of Medical Genetics, 59, (5), 2022, p438-444
Post I, Millington-Ward S, Palfi A, Kenna PF, Chadderton N, Farrar GJ., AAV-delivered NDI1 improves mitochondrial function and provides benefit in AMD models, European Society of Gene and Cell Therapy, 2022
Laura Whelan; Adrian Dockery; Ciara Shortall; Emma Duignan; Susanne Roosing; Paul F Kenna; G.Jane Farrar, A nonsense variant in PEX5 is associated with an atypical peroxisome biogenesis disorder and retinitis pigmentosa, Investigative Ophthalmology and Visual Science (IOVS), ARVO, 63, (7), 2022
Palfi, A. and Chadderton, N. and Millington-Ward, S. and Post, I. and Humphries, P. and Kenna, P.F. and Farrar, G.J., AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice, Molecular Therapy - Methods and Clinical Development, 25, 2022, p236-249
Laura K Finnegan, Naomi Chadderton, Paul F Kenna, Arpad Palfi, Michael Carty, Andrew G Bowie, Sophia Millington-Ward, Gwyneth Jane Farrar, SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration, International Journal of Molecular Sciences, 2022
Ciara Shortall; Laura Whelan; Ella Kopcic; Adrian Dockery; Emma Duignan; Niamh Wynne; Julia Zhu; Kirk A.J. Stephenson; Claire Kirk; Jacqueline Turner; James J O'Byrne; Giuliana Silvestri; David J Keegan; Paul F Kenna; G.Jane Farrar, Functional analysis of putative splice-altering variants detected in an Irish inherited retinal disease cohort, ARVO 2022, 63, (7), 2022
Stephenson, K.A.J. and Zhu, J. and Dockery, A. and Whelan, L. and Burke, T. and Turner, J. and Oâ byrne, J.J. and Jane Farrar, G. and Keegan, D.J., Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing, International Journal of Molecular Sciences, 23, (2), 2022
Laura K Finnegan, Naomi Chadderton, Paul F Kenna, Arpad Palfi, Michael Carty, Andrew G Bowie, Sophia Millington-Ward, G Jane Farrar, Ablation of NADase SARM1 is protective in a mouse model of retinal ganglion cell degeneration induced by mitochondrial dysfunction, ESGCT 2022, Edinburgh, 33, (23-24), 2022
Chadderton N, Palfi A, Maloney D, Carrigan C, Finnegan LK, Hanlon KS, Shortall C, O'Reilly M, Humphries P, Cassidy L, Kenna PF, Millington-Ward S, Farrar GJ., Amelioration of retinal mitochondrial dysfunction with AAV-ophNdi1, Human Gene Therapy, ESGCT 2022, 33, (23-24), 2022
Adrian Dockery; Laura Whelan; Mubeen Khan; Zelia Corradi; Kirk A.J. Stephenson; Julia Zhu; Claire Kirk; Rebecca Cairns; James J O'Byrne; Jacqueline Turner; Claire-Marie Dhaenens; Giuliana Silvestri; David J Keegan; Paul F Kenna; Frans P.M. Cremers; G. Jane Farrar, Genotype-phenotype correlations of known and novel variants in the PRPH2 gene., Investigative Ophthalmology and Visual Science (IOVS), ARVO, 2022
Zhu, J. and Stephenson, K.A.J. and Farrar, G.J. and Turner, J. and Oâ Byrne, J.J. and Keegan, D., Management of significant secondary genetic findings in an ophthalmic genetics clinic, Eye (Basingstoke), 2021
Fadaie, Z. and Whelan, L. and Ben-Yosef, T. and Dockery, A. and Corradi, Z. and Gilissen, C. and Haer-Wigman, L. and Corominas, J. and Astuti, G.D.N. and de Rooij, L. and van den Born, L.I. and Klaver, C.C.W. and Hoyng, C.B. and Wynne, N. and Duignan, E.S. and Kenna, P.F. and Cremers, F.P.M. and Farrar, G.J. and Roosing, S., Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases, npj Genomic Medicine, 6, (1), 2021
Paul F Kenna; Emma Duignan; Adrian Dockery; Hilary Dempsey; Laura Whelan; Susanne Roosing; G. Jane Farrar, Genotype / Phenotype correlation of autosomal dominant Retinitis Pigmentosa (adRP) due to deletion of the PRPF31 gene, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2021, 63, (7), 2021
Kelly, Ruth A and Perkumas, Kristin M and Campbell, Matthew and Farrar, G Jane and Stamer, W Daniel and Humphries, Pete and O'Callaghan, Jeffrey and O'Brien, Colm J, Fibrotic Changes to Schlemm's Canal Endothelial Cells in Glaucoma, International journal of molecular sciences, 22, (17), 2021
Reurink, J. and Dockery, A. and OziÄ bÅ'o, D. and Farrar, G.J. and OÅ'dak, M. and Ten Brink, J.B. and Bergen, A.A. and Rinne, T. and Yntema, H.G. and Pennings, R.J.E. and van den Born, L.I. and Aben, M. and Oostrik, J. and Venselaar, H. and Plomp, A.S. and Khan, M.I. and van Wijk, E. and Cremers, F.P.M. and Roosing, S. and Kremer, H., Molecular inversion probe-based sequencing of ush2a exons and splice sites as a cost-effective screening tool in ush2 and arrp cases, International Journal of Molecular Sciences, 22, (12), 2021
Finnegan L, Chadderton N, Kenna PF, Palfi A, Carty M, Bowie A, Millington-Ward S, Farrar GJ., Ablation of a prodegenerative gene confers histological and functional protection in a mouse model of retinal degeneration, Human Gene Therapy, European Society of Gene and Cell Therapy (ESGCT), 2021
Dockery, A. and Whelan, L. and Humphries, P. and Jane Farrar, G., Next-generation sequencing applications for inherited retinal diseases, International Journal of Molecular Sciences, 22, (11), 2021
Stephenson, K.A.J. and Zhu, J. and Wynne, N. and Dockery, A. and Cairns, R.M. and Duignan, E. and Whelan, L. and Malone, C.P. and Dempsey, H. and Collins, K. and Routledge, S. and Pandey, R. and Crossan, E. and Turner, J. and Oâ Byrne, J.J. and Brady, L. and Silvestri, G. and Kenna, P.F. and Farrar, G.J. and Keegan, D.J., Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations, Orphanet Journal of Rare Diseases, 16, (1), 2021
Cassidy, P.S. and Kelly, R.A. and Reina-Torres, E. and Sherwood, J.M. and Humphries, M.M. and Kiang, A.-S. and Farrar, G.J. and O'Brien, C. and Campbell, M. and Stamer, W.D. and Overby, D.R. and Humphries, P. and O'Callaghan, J., siRNA targeting Schlemm's canal endothelial tight junctions enhances outflow facility and reduces IOP in a steroid-induced OHT rodent model, Molecular Therapy - Methods and Clinical Development, 20, 2021, p86-94
Kirk A.J. Stephenson; Julia Zhu; Niamh Wynne; Rebecca Cairns; Adrian Dockery; Laura Whelan; Emma Duignan; Jacqueline Turner; James J O'Byrne; Laura Brady; Giuliana Silvestri; Paul F Kenna; G. Jane Farrar; David J Keegan, Target 5000: Evolution of the Irish National Program for Inherited Retinal Degenerations, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2021, US, 62, (8), 2021
Lane, A. and Jovanovic, K. and Shortall, C. and Ottaviani, D. and Panes, A.B. and Schwarz, N. and Guarascio, R. and Hayes, M.J. and Palfi, A. and Chadderton, N. and Farrar, G.J. and Hardcastle, A.J. and Cheetham, M.E., Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids, Stem Cell Reports, 15, (1), 2020, p67-79
Khan, M. and Cornelis, S.S. and Pozo-Valero, M.D. and Whelan, L. and Runhart, E.H. and Mishra, K. and Bults, F. and AlSwaiti, Y. and AlTalbishi, A. and De Baere, E. and Banfi, S. and Banin, E. and Bauwens, M. and Ben-Yosef, T. and Boon, C.J.F. and van den Born, L.I. and Defoort, S. and Devos, A. and Dockery, A. and Dudakova, L. and Fakin, A. and Farrar, G.J. and Sallum, J.M.F. and Fujinami, K. and Gilissen, C. and GlavaÄ , D. and Gorin, M.B. and Greenberg, J. and Hayashi, T. and Hettinga, Y.M. and Hoischen, A. and Hoyng, C.B. and Hufendiek, K. and JÀgle, H. and Kamakari, S. and Karali, M. and Kellner, U. and Klaver, C.C.W. and Kousal, B. and Lamey, T.M. and MacDonald, I.M. and Matynia, A. and McLaren, T.L. and Mena, M.D. and Meunier, I. and Miller, R. and Newman, H. and Ntozini, B. and Oldak, M. and Pieterse, M. and Podhajcer, O.L. and Puech, B. and Ramesar, R. and RÃŒther, K. and Salameh, M. and Salles, M.V. and Sharon, D. and Simonelli, F. and Spital, G. and Steehouwer, M. and Szaflik, J.P. and Thompson, J.A. and Thuillier, C. and Tracewska, A.M. and van Zweeden, M. and Vincent, A.L. and Zanlonghi, X. and Liskova, P. and Stöhr, H. and Roach, J.N.D. and Ayuso, C. and Roberts, L. and Weber, B.H.F. and Dhaenens, C.â M. and Cremers, F.P.M., Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics, Genetics in Medicine, 22, (7), 2020, p1235-1246
Stephenson, K.A.J. and Dockery, A. and Oâ Keefe, M. and Green, A. and Farrar, G.J. and Keegan, D.J., A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics, Eye (Basingstoke), 34, (4), 2020, p690-694
Paul F Kenna; Niamh Wynne; Peter Humphries; Laura Whelan; Adrian Dockery; G. Jane Farrar, ATXN7 Expansion Repeat Presenting with Isolated Maculopathy, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2020, 61, (7), 2020
Millington-Ward, S. and Chadderton, N. and Berkeley, M. and Finnegan, L.K. and Hanlon, K.S. and Carrigan, M. and Humphries, P. and Kenna, P.F. and Palfi, A. and Farrar, G.J., Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells, Scientific Reports, 10, (1), 2020
Whelan, L. and Dockery, A. and Wynne, N. and Zhu, J. and Stephenson, K. and Silvestri, G. and Turner, J. and Oâ Byrne, J.J. and Carrigan, M. and Humphries, P. and Keegan, D. and Kenna, P.F. and Farrar, G.J., Findings from a genotyping study of over 1000 people with inherited retinal disorders in Ireland, Genes, 11, (1), 2020
Palfi, A. and Yesmambetov, A. and Millington-Ward, S. and Shortall, C. and Humphries, P. and Kenna, P.F. and Chadderton, N. and Farrar, G.J., AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1â^'/â^' Retinas, Frontiers in Neuroscience, 14, (891), 2020
Finnegan LK, Chaddertong N, Palfi A, Millington-Ward S, Kenna PF, Carty M, Bowie AG, Farrar GJ., Modulation of a prodegenerative pathway as a neuroprotective strategy, American Society of Gene and Cell Therapy (ASGCT), US, 2020
Palfi, A. and Yesmambetov, A. and Humphries, P. and Hokamp, K. and Farrar, G.J., Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice, Frontiers in Neuroscience, 14, (656), 2020
Maloney, D.M. and Chadderton, N. and Millington-Ward, S. and Palfi, A. and Shortall, C. and Oâ Byrne, J.J. and Cassidy, L. and Keegan, D. and Humphries, P. and Kenna, P. and Farrar, G.J., Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction, Frontiers in Neuroscience, 14, (571479), 2020
Kiang, A.-S. and Kenna, P.F. and Humphries, M.M. and Ozaki, E. and Koenekoop, R.K. and Campbell, M. and Jane Farrar, G. and Humphries, P., Properties and therapeutic implications of an enigmatic d477g rpe65 variant associated with autosomal dominant retinitis pigmentosa, Genes, 11, (12), 2020, p1-21
Kenna, P.F. and Humphries, M.M. and Kiang, A.-S. and Brabet, P. and Guillou, L. and Ozaki, E. and Campbell, M. and Jane Farrar, G. and Koenekoop, R. and Humphries, P., Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy, BMJ Open Ophthalmology, 5, (1), 2020
Maloney, D.M. and Chadderton, N. and Palfi, A. and Millington-Ward, S. and Farrar, G.J., Retinal Bioenergetics: New Insights for Therapeutics, Advances in Experimental Medicine and Biology, 1185, 2019, p275-279
Dockery, A. and Carrigan, M. and Wynne, N. and Stephenson, K. and Keegan, D. and Kenna, P.F. and Farrar, G.J., A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa, Advances in Experimental Medicine and Biology, 1185, 2019, p203-207
rpad Palfi; Adlet Yesmambetov; Gwyneth Jane Farrar, Early-onset inner retina degeneration in a mouse model of retinitis pigmentos, IOVS, ARVO 2019, US, 60, (9), 2019
Naomi Chadderton, Arpad Palfi, Matthew Carrigan, Danny Maloney, Sophia Millington-Ward, Killian Hanlon, Peter Humphries, Paul F Kenna and G Jane Farrar., The therapeutic potential of AAV-ophNdi1 for the treatment of Leber Hereditary Optic Neuropathy (LHON)., British Society for Gene and Cell Therapy (BSGCT), 2019
Adrian Dockery; Niamh C Wynne; Kirk Stephenson; Laura Whelan; Peter Humphries; Giuliana Silvestri; Matthew Carrigan; David J Keegan; Paul F Kenna; G. Jane Farrar, Target 5000: Target Capture Genotyping of Retinal Degenerations in Ireland, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2019, 60, (9), 2019
A Palfi, C Shortall, N Chadderton, PF Kenna, M Carrigan1, S Boomkamp, S Shen, AJ Hardcastle, GJ Farrar, AAV-mediated RP2 replacement in a patient-derived in vitro disease model, Human Gene Therapy, European Society of Gene and Cell Therapy (ESGCT), 2018
Daniel Manraj Maloney; Matthew Carrigan; Naomi Chadderton; Sophia Millington-Ward; Arpad Palfi; Peter Humphries; Jane G Farrar, Exploration of Mitochondrially Targeted Gene Therapies, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2018, 59, (9), 2018
Rodriguez, A.S. and Engel, T. and Palfi, A. and Farrar, G.J. and Henshall, D.C. and Jimenez-Mateos, E.M., Tubby-like protein 1 (Tulp1) is a target of microrna-134 and is down-regulated in experimental epilepsy, International Journal of Physiology, Pathophysiology and Pharmacology, 9, (6), 2017, p178-187
Farrar, G.J. and Carrigan, M. and Dockery, A. and Millington-Ward, S. and Palfi, A. and Chadderton, N. and Humphries, M. and Kiang, A.S. and Kenna, P.F. and Humphries, P., Toward an elucidation of the molecular genetics of inherited retinal degenerations, Human Molecular Genetics, 26, (R1), 2017, pR2-R11
Dockery, A. and Stephenson, K. and Keegan, D. and Wynne, N. and Silvestri, G. and Humphries, P. and Kenna, P.F. and Carrigan, M. and Farrar, G.J., Target 5000: Target capture sequencing for inherited retinal degenerations, Genes, 8, (11), 2017, p304-
Hanlon, K.S. and Chadderton, N. and Palfi, A. and Fernandez, A.B. and Humphries, P. and Kenna, P.F. and Millington-Ward, S. and Farrar, G.J., A novel retinal ganglion cell promoter for utility in AAV vectors, Frontiers in Neuroscience, 11, (SEP), 2017
Carrigan M, Duignan E, Malone C.P.G, Stephenson K, Saad T, McDermott C, Green A, Keegan D, Humphries P, Kenna P.F, Farrar G.J, Panel-Based population next-generation sequencing for inherited retinal degenerations, Scientific Reports, 6, 2016, p33248-
Paul Kenna; Matthew Carrigan; Conor Patrick Malone; Emma Duignan; G Jane Farrar, CHM and RPE65: A diagnostic paradox resolved by Next Generation Sequencing, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2016, 57, (12), 2016
Carrigan M, Duignan E, Humphries P, Palfi A, Kenna P.F, Jane Farrar G, A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration, British Journal of Ophthalmology, 100, (4), 2016, p501 - 504
Palfi, A. and Hokamp, K. and Hauck, S.M. and Vencken, S. and Millington-Ward, S. and Chadderton, N. and Carrigan, M. and Kortvely, E. and Greene, C.M. and Kenna, P.F. and Farrar, G.J., MicroRNA regulatory circuits in a mouse model of inherited retinal degeneration, Scientific Reports, 6, (31431), 2016
Arpad Palfi; Karsten Hokamp; Stefanie M Hauck; Sebastian Vencken; Matthew Carrigan; Marius Ueffing; Catherine Greene; G Jane Farrar, miRNA regulation and potential interactors of Rac1 in the mouse retina, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2016, 57, (12), 2016
Palfi, A. and Chadderton, N. and O'Reilly, M. and Nagel-Wolfrum, K. and Wolfrum, U. and Bennett, J. and Humphries, P. and Kenna, P. and Millington-Ward, S. and Farrar, J., Corrigendum to â Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rhoâ"/â" mouseâ (Molecular Therapy - Methods and Clinical Development (2015) 2 (S2329050116300286) (10.1038/mtm.2015.16)), Molecular Therapy - Methods and Clinical Development, 3, 2016, p16032
Matthew Carrigan; Emma Duignan; Conor Patrick Malone; Kirk Stephenson; David J Keegan; Peter Humphries; Paul Kenna; G Jane Farrar, Target 5000: Next-Generation Sequencing of the Irish Inherited Retinal Degeneration Population, Ivestigative Ophthalmology and Visual Science (IOVS), ARVO 2016, US, 57, (12), 2016
Gene Therapy for Dominantly Inherited Retinal Degenerations in, editor(s)Elizabeth P Rakoczy , Gene and Cell Based Treatment Strategies for Eye, Springer, Springer, 2015, [Farrar GJ, Millington-Ward S, Palfi A, Chadderton N, Kenna PF.]
Palfi Arpad, Chadderton Naomi, O'Reilly Mary, Nagel-Wolfrum Kerstin, Wolfrum Uwe, Bennett Jean, Humphries Peter, Kenna Paul, Millington-Ward Sophia, Farrar GJ, Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rhoâ, '/â, ' mouse, Molecular Therapy-Methods & Clinical Development, 2, 2015, p15016-
Mansergh FC, Carrigan M, Hokamp K, Farrar GJ, Gene expression changes during retinal development and rod specification, Molecular Vision, 21, 2015, p61 - 87
Farrar GJ, Millington-Ward S, Chadderton N, Mansergh FC, Palfi A., Gene therapies for inherited retinal disorders, Visual Neuroscience, 31, ((4-5)), 2014, p289-307
Mansergh FC, Chadderton N, Kenna PF, Gobbo OL, Farrar GJ, Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy, European Journal of Human Genetics, 22, (11), 2014, p1314-20
Trapani, I. and Colella, P. and Sommella, A. and Iodice, C. and Cesi, G. and de Simone, S. and Marrocco, E. and Rossi, S. and Giunti, M. and Palfi, A. and Farrar, G.J. and Polishchuk, R. and Auricchio, A., Effective delivery of large genes to the retina by dual AAV vectors, EMBO Molecular Medicine, 6, (2), 2014, p194-211
Arpad Palfi; Naomi Chadderton; Sophia Millington-Ward; Mary O'Reilly; Jean Bennett; Paul Kenna; Jane Farrar, The utility of AAV2/rh10 for gene delivery to murine photoreceptors, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2014, 55, (13), 2014
Egan CM, Nyman U, Skotte J, Streubel G, Turner S, O'Connell DJ, Rraklli V, Dolan MJ, Chadderton N, Hansen K, Farrar GJ, Helin K, Holmberg J, Bracken AP, CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression., Developmental cell, 26, (3), 2013, p223-36
N Chadderton, A Palfi, S Millington-Ward, O Gobbo, N Overlack, M Carrigan, M O'Reilly, M Campbell, C Ehrhardt, U Wolfrum, P Humphries, PF Kenna, GJ Farrar, Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy, Eur J Hum Genet, 21, (1), 2013, p62-68
Chadderton N, Palfi A, Millington-Ward S, Gobbo O, Overlack N, Carrigan M, O'Reilly M, Campbell M, Ehrhardt C, Wolfrum U, Humphries P, Kenna PF, Jane Farrar G, Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy., European journal of human genetics : EJHG, 21, (1), 2013, p62-8
Morgan CP, Allen DS, Millington-Ward S, O'Dwyer GE, Palfi A, Farrar GJ., A mutation-independent therapeutic strategy for dominant dystrophic epidermolysis bullosa., Journal of Investigative Dermatology, 133, 2013, p2793 - 2796
Farrar, G.J., Chadderton, N., Kenna, P.F., Millington-Ward, S, Mitochondrial disorders: aetiologies, models systems, and candidate therapies, Trends in Genetics, 2013, p00-00
Tam LC, Kiang AS, Campbell M, Keaney J, Farrar GJ, Humphries MM, Kenna PF, Humphries P, Protein misfolding and potential therapeutic treatments in inherited retinopathies., Advances in experimental medicine and biology, 723, 2012, p567-72
Farrar GJ, Millington-Ward S, Chadderton N, Humphries P, Kenna PF, Gene-based therapies for dominantly inherited retinopathies., Gene therapy, 19, (2), 2012, p137-44
Millington-Ward, S. and O'Reilly, M. and Chadderton, N. and Kenna, P.F. and Farrar, G.J. and Palfi, A., Gene therapy for retinal degenerations, 2012, 397-418pp
Palfi, A., Chadderton, N., McKee, A.G., Blanco Fernandez, A., Humphries, P., Kenna, P.F., Farrar, G.J., Efficacy of codelivery of dual AAV2/5 vectors in the murine retina and hippocampus, Human Gene Therapy, 23, (8), 2012, p847-858
Doyle SL, Campbell M, Ozaki E, Salomon RG, Mori A, Kenna PF, Farrar GJ, Kiang AS, Humphries MM, Lavelle EC, O'Neill LA, Hollyfield JG, Humphries P, NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components., Nature medicine, 18, (5), 2012, p791-798
Humphries MM, Kenna PF, Campbell M, Tam LC, Nguyen AT, Farrar GJ, Botto M, Kiang AS, Humphries P, C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa., European journal of human genetics : EJHG, 20, (1), 2012, p64-8
Czekaj M, Haas J, Gebhardt M, Müller-Reichert T, Humphries P, Farrar J, Bartsch U, Ader M, In vitro expanded stem cells from the developing retina fail to generate photoreceptors but differentiate into myelinating oligodendrocytes., PloS one, 7, (7), 2012, pe41798
Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P, A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement., European Journal of Human Genetics : EJHG, 19, (10), 2011, p1074-81
Farrar GJ, 'Ndi1', Murgitroyd, 2011, 30 August 2024, TCD
Campbell M, Humphries MM, Nguyen ATH, Gobbo OL, Tam LCS, Suzuki M, Hanrahan F, Ozaki E, Farrar G-J, Kiang A-S, Kenna PF, Humphries P. , Systemic low-molecular weight drug delivery to pre-selected neuronal regions, EMBO Molecular Medicine, 3, (4), 2011, p235-245
Bowne, S.J., Humphries, M.M., Sullivan, L.S., Kenna, P.F., Tam, L.C.S., Kiang, A.S., Campbell, M., (...), Humphries, P. , Erratum: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement (European Journal of Human Genetics (2011) 19 (1074-1081) DOI: 10.1038/ejhg.2011.86), 2011, - 1109
Sophia Millington-Ward, Naomi Chadderton, Mary O'Reilly, Arpad Palfi, Tobias Goldmann, Claire Kilty, Marian Humphries, Uwe Wolfrum, Jean Bennett, Peter Humphries, Paul F Kenna and G Jane Farrar, Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa, Molecular Therapy, 2011
Bazou D, Kearney R, Mansergh F, Bourdon C, Farrar J, Wride M, Gene expression analysis of mouse embryonic stem cells following levitation in an ultrasound standing wave trap., Ultrasound in medicine & biology, 37, (2), 2011, p321-30
Bowne, SJ, Humphries, MM, Sullivan, LS, Kenna, PF, Tam, LCS, Kiang, AS, Campbell, M, Weinstock, GM, Koboldt, DC, Ding, L, Fulton, RS, Sodergren, EJ, Allman, D, Millington-Ward, S, Palfi, A, McKee, A, Blanton, SH, Slifer, S, Konidari, I, Farrar, GJ, Daiger, SP, Humphries, P, A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement, EUROPEAN JOURNAL OF HUMAN GENETICS, 19, (10), 2011, p1074-1081
Tam LC, Kiang AS, Campbell M, Keaney J, Farrar GJ, Humphries MM, Kenna PF, Humphries P, Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90)., Human Molecular Genetics, 19, (22), 2010, p4421-36
Mansergh FC, Vawda R, Millington-Ward S, Kenna PF, Haas J, Gallagher C, Wilson J, Humphries P, Ader M, Farrar GJ., Loss of photoreceptor potential from retinal progenitor cell cultures, despite improvements in survival, Experimental Eye Research, 91, (4), 2010, p500 - 512
Lawrence C. S. Tam, Anna-Sophia Kiang, Matthew Campbell, James Keaney, G. Jane Farrar, Marian M. Humphries, Paul F. Kenna and Pete Humphries, Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90), Human Molecular Genetics, 19, (22), 2010, p4421-4436
Tam LC, Kiang AS, Chadderton N, Kenna PF, Campbell M, Humphries MM, Farrar GJ, Humphries P, Protection of photoreceptors in a mouse model of RP10., Advances in Experimental Medicine and Biology, 664, (Part 5), 2010, p559-65
Campbell M, Nguyen AT, Kiang AS, Tam L, Kenna PF, Dhubhghaill SN, Humphries M, Farrar GJ, Humphries P, Reversible and size-selective opening of the inner Blood-Retina barrier: a novel therapeutic strategy., Advances in Experimental Medicine and Biology, 664, (Part 3), 2010, p301-8
Palfi A, Millington-Ward S, Chadderton N, O'Reilly M, Goldmann T, Humphries MM, Li T, Wolfrum U, Humphries P, Kenna PF, Farrar GJ., Adeno-associated virus-mediated rhodopsin replacement provides therapeutic benefit in mice with a targeted disruption of the rhodopsin gene, Human Gene Therapy, 21, (3), 2010, p311-323
McKee AG, Loscher JS, O'Sullivan NC, Chadderton N, Palfi A, Batti L, Sheridan GK, O'Shea S, Moran M, McCabe O, Fernández AB, Pangalos MN, O'Connor JJ, Regan CM, O'Connor WT, Humphries P, Farrar GJ, Murphy KJ., AAV-mediated chronic over-expression of SNAP-25 in adult rat dorsal hippocampus impairs memory-associated synaptic plasticity, Journal of Neurochemistry, 112, (4), 2010, p991-1004
Farrar, G.J. and Palfi, A. and Kenna, P.F. and O'Reilly, M., Gene-Based Therapies for Dominant Retinopathies, Current Gene Therapy, 10, (5), 2010, p381-388
Chadderton, N, Millington-Ward, S, Palfi, A, O'Reilly, M, Tuohy, G, Humphries, MM, Li, T, Humphries, P, Kenna, PF, Farrar, GJ, Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy., Molecular Therapy : The Journal of the American Society of Gene Therapy, 17, (4), 2009, p593-599
Matthew Campbell, Anh T. H. Nguyen, Anna-Sophia Kiang, Lawrence C. S. Tam, Oliviero L. Gobbo, Christian Kerskens, Sorcha Ni Dhubhghaill, Marian M. Humphries, G.-Jane Farrar, Paul F. Kenna and Peter Humphries, An experimental platform for systemic drug delivery to the retina, Proceedings of the National Academy of Sciences of the United States, 106, (42), 2009, p17817 - 17822
Reynolds, AL, Danciger, M, Farrar, GJ, Humphries, P, Kenna, PF, Influence of a quantitative trait locus on mouse chromosome 19 to the light-adapted electroretinogram., Investigative ophthalmology & visual science, 49, (9), 2008
Tam, LC, Kiang, AS, Kennan, A, Kenna, PF, Chadderton, N, Ader, M, Palfi, A, Aherne, A, Ayuso, C, Campbell, M, Reynolds, A, McKee, A, Humphries, MM, Farrar, GJ, Humphries, P, Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)., Human Molecular Genetics, 17, (14), 2008, p2084-2100
Reynolds, AL, Farrar, GJ, Humphries, P, Kenna, PF, Variation in the electroretinogram of C57BL/6 substrains of mouse., Advances in experimental medicine and biology, 613, 2008
Allen, D, Winters, E, Kenna, PF, Humphries, P, Farrar, GJ, Reference gene selection for real-time rtPCR in human epidermal keratinocytes., Journal of dermatological science, 49, (3), 2008
Campbell, M, Kiang, AS, Kenna, PF, Kerskens, C, Blau, C, O'Dwyer, L, Tivnan, A, Kelly, JA, Brankin, B, Farrar, GJ, Humphries, P, RNAi-mediated reversible opening of the blood-brain barrier., The Journal of Gene Medicine, 10, (8), 2008, p930 - 947
Bartsch, U, Oriyakhel, W, Kenna, PF, Linke, S, Richard, G, Petrowitz, B, Humphries, P, Farrar, GJ, Ader, M, Retinal cells integrate into the outer nuclear layer and differentiate into mature photoreceptors after subretinal transplantation into adult mice., Experimental eye research, 86, (4), 2008
Loscher, CJ, Hokamp, K, Wilson, JH, Li, T, Humphries, P, Farrar, GJ, Palfi, A, A common microRNA signature in mouse models of retinal degeneration., Experimental eye research, 87, (6), 2008, p529 - 534
N. Chadderton, S. Millington-Ward, S. Palfi, M, O'Reilly, G. Touhy, M. Humphries, P. Kenna, J. Farrar, Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy, Molecular Therapy, 17, (4), 2008, p593 - 599
O'Reilly, M, Millington-Ward, S, Palfi, A, Chadderton, N, Cronin, T, McNally, N, Humphries, MM, Humphries, P, Kenna, PF, Farrar, GJ, A transgenic mouse model for gene therapy of rhodopsin-linked Retinitis Pigmentosa., Vision Research, 48, (3), 2008, p386-391
O'Reilly, M, Palfi, A, Chadderton, N, Millington-Ward, S, Ader, M, Cronin, T, Tuohy, T, Auricchio, A, Hildinger, M, Tivnan, A, McNally, N, Humphries, MM, Kiang, AS, Humphries, P, Kenna, PF, Farrar, GJ, RNA interference-mediated suppression and replacement of human rhodopsin in vivo., American Journal of Human Genetics, 81, (1), 2007, p127-135
Loscher, CJ, Hokamp, K, Kenna, PF, Ivens, AC, Humphries, P, Palfi, A, Farrar, GJ, Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa., Genome biology, 8, (11), 2007
Allen, D, Kenna, PF, Palfi, A, McMahon, HP, Millington-Ward, S, O'Reilly, M, Humphries, P, Farrar, GJ, Development of strategies for conditional RNA interference., The journal of gene medicine, 9, (4), 2007
Aherne A, Kennan A, Kenna PE, McNally N, Farrar GJ, Humphries P, Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations, RETINAL DEGENERATIVE DISEASES ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY, 572, 2006, p81 - 87
Palfi A, Ader M, Kiang AS, Millington-Ward S, Clark G, O'Reilly M, McMahon HP, Kenna PE, Humphries P, Farrar GJ, RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture, HUMAN MUTATION, 27, (3), 2006, p260 - 268
Kiang AS, Palfi A, Ader M, Kenna PF, Millington-Ward S, Clark G, Kennan A, O'Reilly M, Tam LCT, Aherne A, McNally N, Humphries P, Farrar GJ, Toward a gene therapy for dominant disease: Validation of an RNA interference-based mutation-independent approach, MOLECULAR THERAPY, 12, (3), 2005, p555 - 561
Millington-Ward S, McMahon HP, Farrar GJ, Emerging therapeutic approaches for osteogenesis imperfecta, TRENDS IN MOLECULAR MEDICINE, 11, (6), 2005, p299 - 305
Kernan FL, Kenna PF, Miura M, Humphries P, Farrar GJ, Development of a strategy for the evaluation of the therapeutic potential of p35 for retinal degenerations, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 46, (Suppl. S), 2005, p1683
S. Millington-Ward, H. P. McMahon, D. Allen, G. Tuohy, A. S. Kiang, A. Palfi, P. F. Kenna, P. Humphries and G. J. Farrar, RNAi of COL1A1 in mesenchymal progenitor cells, EUROPEAN JOURNAL OF HUMAN GENETICS, 12, (10), 2004, p864 - 866
A. Aherne, A. Kennan, P. F. Kenna, N. McNally, D. G. Lloyd, I. L. Alberts, A. S. Kiang, M. M. Humphries, C. Ayuso, P. C. Engel, J. J. Gu, B. S. Mitchell, G. J. Farrar and P. Humphries, On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa, HUMAN MOLECULAR GENETICS, 13, (6), 2004, p641 - 650
Cronin TC, O'Reilly M, O'Neill B, Kiang AS, Palfi A, Kenna PF, Farrar GJ, Humphries P, Mutation-Independent suppression of rhodopsin in Autosomal dominant Retinitis Pigmentosa by siRNA, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 45, (Suppl. 2), 2004, pU586 - U586
Palfi A, Kiang AS, McMahon HP, Millington-Ward S, Kenna PF, Humphries P, Farrar GJ, Validation of RNAi technology for suppression and replacement of rds-peripherin, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 45, (Suppl. 2), 2004, pU519 - U519
Kennan A, Demtroder K, McNally N, McKee A, Palfi A, Humphries M, Farrar GJ, Kenna PF, Orntoft T, Humphries P, Comparative analysis of global RNA expression profiles in the retinas of wild type and rho-/- mice, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 45, (Suppl. 1), 2004, pU946 - U946
McMahon HP, Allen D, Humphries P, Kenna PF, Millington-Ward S, Farrar GJ, Mutation-independent gene therapy strategy for osteogenesis imperfecta, AMERICAN JOURNAL OF HUMAN GENETICS, 73, (5), 2003, pp622 - 622
Ahearne A, Kennan A, Bowne SJ, Daiger SP, Engel PC, Farrar GJ, Kenna PF, Humphries P, Functional analysis of mutations in IMPDH1 gene implicated in RP10 form of retinitis pigmentosa, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 44, (Suppl. 2), 2003, ppU277 - U277
A. Kennan, A. Aherne, S. J. Bowne, S. P. Daiger, G. J. Farrar, P. F. Kenna and P. Humphries, On the role of IMPDH1 in retinal degeneration, RETINAL DEGENERATIONS: MECHANISMS AND EXPERIMENTAL THERAPY ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY, 533, 2003, p13 - 18
Kiang AS, Farrar GJ, Kenna PF, Humphries P, Use of RNA interference to knockdown expression of mouse rhodopsin in Cos-7 cells, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 44, (Suppl. 1), 2003, ppU404 - U404
): Kenna PF, Timoney P, McNally N, Humphries P, Farrar GJ, The effects of ambient light exposure on the retinopathy induced by targeted deletion at codon 307 of the mouse Rds-peripherin gene, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 44, (Suppl. 2), 2003, ppU544 - U544
McNally NM, Kenna PF, Rancourt D, Ahmed T, Stitt A, Colledge W, O'Neill B, Humphries M, Humphries P, Farrar GJ, Retinopathy induced in mice by targeted single base deletion at codon 307 of the rds-Peripherin gene, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 43, (Suppl. 2), 2002, ppU1017 - U1017
McNally N, Kenna PF, Rancourt D, Ahmed T, Stitt A, Colledge WH, Lloyd DG, Palfi A, O'Neill B, Humphries MM, Humphries P, Farrar GJ, Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene, Human Molecular Genetics, 11, (9), 2002, p1005 - 1016
S. Millington-Ward, C. Allers, G. Tuohy, P. Conget, D. Allen, H. P. McMahon, P. F. Kenna, P. Humphries and G. J. Farrar, Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta, Human molecular genetics, 11, (19), 2002, p2201-6
A. Kennan, A. Aherne, A. Palfi, M. Humphries, A. McKee, A. Stitt, D. A. Simpson, K. Demtroder, T. Orntoft, C. Ayuso, P. F. Kenna, G. J. Farrar and P. Humphries, Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice, Human molecular genetics, 11, (5), 2002, p547-57
Sophia Millington-Ward, Carolina Allers, Gearóid Tuohy, Paulette Conget, Danny Allen, Helena P. McMahon, Paul F. Kenna, Peter Humphries and G. Jane Farrar, Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta, Human Molecular Genetics, 11, (19), 2002, p2201 - 2206
G. Tuohy, S. Millington-Ward, P. F. Kenna, P. Humphries and G. J. Farrar, Sensitivity of photoreceptor-derived cell line (661W) to baculoviral p35, Z-VAD.FMK, and Fas-associated death domain, Investigative ophthalmology & visual science, 43, (11), 2002, p3583-9
Farrar GJ, Kenna PF, Humphries P., On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention, by Kenna, P. F. , EMBO Journal, 21, 2002
G. J. Farrar, P. F. Kenna and P. Humphries, On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention, The EMBO journal, 21, (5), 2002, p857-64
Gearo"id Tuohy, Sophia Millington-Ward, Paul F. Kenna, Peter Humphries, and G. Jane Farrar, Sensitivity of Photoreceptor-Derived Cell Line (661W) to Baculoviral p35, Z-VAD.FMK, and Fas-Associated Death Domain , Investigative Ophthalmology and Visual Science, 43, 2002, p3583 - 3589
N. McNally, P. F. Kenna, D. Rancourt, T. Ahmed, A. Stitt, W. H. Colledge, D. G. Lloyd, A. Palfi, B. O'Neill, M. M. Humphries, P. Humphries and G. J. Farrar, Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene, Human molecular genetics, 11, (9), 2002, p1005-16
M. M. Humphries, S. Kiang, N. McNally, M. A. Donovan, P. A. Sieving, R. A. Bush, S. Machida, T. Cotter, A. Hobson, J. Farrar, P. Humphries and P. Kenna, Comparative structural and functional analysis of photoreceptor neurons of Rho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background, Vis Neurosci, 18, (3), 2001, p437-43
A. H. Hobson, M. Donovan, M. M. Humphries, G. Tuohy, N. McNally, R. Carmody, T. Cotter, G. J. Farrar, P. F. Kenna and P. Humphries, Apoptotic photoreceptor death in the rhodopsin knockout mouse in the presence and absence of c-fos, Experimental eye research, 71, (3), 2000, p247-54
B. O'Neill, S. Millington-Ward, M. O'Reilly, G. Tuohy, A. S. Kiang, P. F. Kenna, P. Humphries and G. J. Farrar, Ribozyme-based therapeutic approaches for autosomal dominant retinitis pigmentosa, Investigative ophthalmology & visual science, 41, (10), 2000, p2863-9
S. Millington-Ward, B. O'Neill, A. S. Kiang, P. Humphries, P. F. Kenna and G. J. Farrar, A mutation-independent therapeutic strategem for osteogenesis imperfecta, Antisense & nucleic acid drug development, 9, (6), 1999, p537-42
F. C. Mansergh, S. Millington-Ward, A. Kennan, A. S. Kiang, M. Humphries, G. J. Farrar, P. Humphries and P. F. Kenna, Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene, American journal of human genetics, 64, (4), 1999, p971-85
N. McNally, P. Kenna, M. M. Humphries, A. H. Hobson, N. W. Khan, R. A. Bush, P. A. Sieving, P. Humphries and G. J. Farrar, Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene, Human molecular genetics, 8, (7), 1999, p1309-12
N. al-Jandal, G. J. Farrar, A. S. Kiang, M. M. Humphries, N. Bannon, J. B. Findlay, P. Humphries and P. F. Kenna, A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness, Human mutation, 13, (1), 1999, p75-81
F. C. Mansergh, P. F. Kenna, C. Ayuso, A. S. Kiang, P. Humphries and G. J. Farrar, Novel mutations in the TIGR gene in early and late onset open angle glaucoma, Human mutation, 11, (3), 1998, p244-51
Mansergh F, Meitinger T, Rodolph G, Humphries P, Farrar GJ, Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy, JOURNAL OF MEDICAL GENETICS, 35 (1), (JAN), 1998, p85 - 86
Kennan A.M. Mansergh F.C., Fingert J.H., Clark T., Ayuso C., Kenna P.F., Humphries P. and Farrar G.J., A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma, Journal of Medical Genetics, 35, 1998, p957-960
Millington-Ward S, O'Neill B, Tuohy G, Al-Jandal N, Kiang AS, Kenna PF, Palfi A, Hayden P, Mansergh F, Kennan A, Humphries P, and Farrar GJ., Strategems in vitro for gene therapies directed to dominant mutations., Human Molecular Genetics, 6, (9), 1997, p1415-26
Kenna P., Mansergh F., Millington-Ward S., Erven A., Kumar-Singh R., Brennan R., Farrar G.J. and Humphries P. , Clinical and molecular genetic characterization of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness. , British Journal of Ophthalmology, 81, 1997, p207-213
M. M. Humphries, D. Rancourt, G. J. Farrar, P. Kenna, M. Hazel, R. A. Bush, P. A. Sieving, D. M. Sheils, N. McNally, P. Creighton, A. Erven, A. Boros, K. Gulya, M. R. Capecchi and P. Humphries, Retinopathy induced in mice by targeted disruption of the rhodopsin gene, Nature genetics, 15, (2), 1997, p216-9
M. M. Humphries, F. C. Mansergh, A. S. Kiang, S. A. Jordan, D. M. Sheils, M. J. Martin, G. J. Farrar, P. F. Kenna, M. M. Young and P. Humphries, Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland, Human mutation, 8, (1), 1996, p57-63
F. C. Mansergh, P. F. Kenna, G. Rudolph, T. Meitinger, G. J. Farrar, R. Kumar-Singh, J. Scorer, A. M. Hally, L. Mynett-Johnson and M. M. Humphries, Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy, Journal of medical genetics, 32, (11), 1995, p855-8
Kenna, P. and Erven, A. and Farrar, G.J. and Kennedy, S. and Samulski, R.J. and Humphries, P. and Oâ Regan, R. and Young, B.J. and Hurley, C. and Hillery, M. and Collum, L.M.T. and Kennedy, S. and McNamara, M. and Kennedy, S. and Fenton, M. and Tormey, P. and Hayes, P. and Condon, P. and Young, B. and Niland, R. and Benedict-Smith, A. and Horgan, T. and Cleary, P.E. and Horan, E. and Dogar, G.F. and Young, B.J. and Ahmad, M.K.T. and Iqbal, F. and Nolan, J. and Iqgal, F. and Ahmad, M.K.T. and Kinsella, F. and Fenton, S. and Horgan, T. and Fenton, M. and Kilmartin, D. and Kenna, P. and Walsh, J. and Mulvihill, A. and Fulcher, T. and Datta, V. and Acheson, R. and Mulhern, M. and Barry, P. and Condon, P. and Mulhern, M. and Barry, P. and Kelly, G. and Collum, A. and Benedict-Smith, A. and Collum, L.M.T. and Tempany, K. and Byrne, M. and Collum, L.M.T. and Henry, E. and Kennedy, S. and Gillan, J. and Minihan, M. and Cleary, P.E. and Coleman, K. and Baak, J.P.A. and van Diest, P.J. and Mullaney, J. and Cahill, M. and Lenehan, P. and Logan, P., Royal academy of medicine in Ireland section of ophthalmology: Proceedings of meeting held 25th November, 1994, Irish Journal of Medical Science, 164, (4), 1995, p303-307
R. Kumar-Singh, D. G. Bradley, G. J. Farrar, M. Lawler, S. A. Jordan and P. Humphries, Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4), Human genetics, 96, (4), 1995, p502
van Soest S, van den Born LI, Gal A, Farrar GJ, Bleeker Wagemakers L, Westerveld A, Humphries P, Sandkuijl LA and Bergen A., Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32 in an inbred and genetically heterogeneous disease population, Genomics, 22, 1994, p499 - 504
Mansergh, F.C., Jordan S.A., Farrar, G.J., Kumar-Singh R., Gal A., Bhattacharya S., and Humphries P., Three sequence polymorphisms in the PDC gene. , Human Molecular Genetics, 3, (11), 1994, p2077
Humphries, P. and Kenna, P. and Farrar, G.J., New dimensions in macular dystrophies, Nature Genetics, 8, (4), 1994, p315-317
Kumar-Singh R, Wang H, Humphries P and Farrar GJ., Autosomal dominant retinitis pigmentosa: no evidence for non-allelic genetic heterogeneity on chromosome 3q, Am. J. Hum. Genet, 52, 1993, p319 - 326
S. A. Jordan, G. J. Farrar, P. Kenna, M. M. Humphries, D. M. Sheils, R. Kumar-Singh, E. M. Sharp, N. Soriano, C. Ayuso, J. Benitez and et al., Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q, Nature genetics, 4, (1), 1993, p54-8
Humphries, P. and Jane Farrar, G. and Kenna, P., Chapter 10 Autosomal dominant retinitis pigmentosa: Molecular, genetic and clinical aspects, Progress in Retinal Research, 12, (C), 1993, p231-245
R. Kumar-Singh, G. J. Farrar, F. Mansergh, P. Kenna, S. Bhattacharya, A. Gal and P. Humphries, Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8), Human molecular genetics, 2, (7), 1993, p875-8
M. M. Humphries, D. M. Sheils, G. J. Farrar, R. Kumar-Singh, P. F. Kenna, F. C. Mansergh, S. A. Jordan, M. Young and P. Humphries, A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex, Human mutation, 2, (1), 1993, p37-42
Farrar, G.J. and Kenna, P. and Jordan, S.A. and Kumar-Singh, R. and Humphries, M.M. and Sharp, E.M. and Sheils, D. and Humphries, P., Errata: Autosomal dominant retinitis pignentosa: A novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree (Genomics (1992) 14 3 (805-807)), Genomics, 15, (2), 1993, p466
G. J. Farrar, P. Kenna, S. A. Jordan, R. Kumar-Singh, M. M. Humphries, E. M. Sharp, D. Sheils and P. Humphries, Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree, Genomics, 15, (2), 1993, p466
G. J. Farrar, J. B. Findlay, R. Kumar-Singh, P. Kenna, M. M. Humphries, E. Sharpe and P. Humphries, Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family, Human molecular genetics, 1, (9), 1992, p769-71
S. A. Jordan, G. J. Farrar, R. Kumar-Singh, P. Kenna, M. M. Humphries, V. Allamand, E. M. Sharp and P. Humphries, Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin, American journal of human genetics, 50, (3), 1992, p634-9
Jordan SA, Farrar GJ, Kenna P and Humphries P., Polymorphic variation within 'conserved' sequences at the 3, end of the human RDS gene which results in amino acid substitutions, Human Mutation, 1, (3), 1992, p240 - 247
Inglehern CF, Lester DH, Bashir R, Atif U, Keen J, Sertedaki A, Linksey J, Jay M, Bird AC, Farrar GJ, Humphries P and Bhattacharya SS, Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin linked retinitis pigmentosa families, Am. J. Hum. Genet, 50, 1992, p590
Humphries P, Kenna P and Farrar GJ, On the molecular genetics of retinitis pigmentosa, Science, 256, 1992, p804 - 808
M. M. Humphries, D. M. Sheils, S. A. Jordan, G. J. Farrar, R. Kumar-Singh and P. Humphries, Alu polymorphism in the human type I Keratin (KRT14) gene, Human molecular genetics, 1, (6), 1992, p453
Farrar, G.J. and Jordan, S.A. and Kenna, P. and Humphries, M.M. and Kumar-Singh, R. and McWilliam, P. and Allamand, V. and Sharp, E. and Humphries, P., Erratum: Autosomal dominant retinitis pigmentosa: Localization of a disease gene (RP6) to the short arm of chromosome 6 (Genomics (1991) 11:4 (870-874)), Genomics, 13, (4), 1992, p1384
G. J. Farrar, P. Kenna, S. A. Jordan, R. Kumar-Singh, M. M. Humphries, E. M. Sharp, D. Sheils and P. Humphries, Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree, Genomics, 14, (3), 1992, p805-7
Kumar-Singh R, Kenna P, Farrar GJ and Humphries P. , Evidence for further genetic heterogeneity in autosomal dominant retinitis pigmentosa, Genomics, 15, 1992, p212 - 215
G. J. Farrar, S. A. Jordan, P. Kenna, M. M. Humphries, R. Kumar-Singh, P. McWilliam, V. Allamand, E. Sharp and P. Humphries, Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6, Genomics, 11, (4), 1991, p870-4
G. J. Farrar, P. Kenna, R. Redmond, D. Shiels, P. McWilliam, M. M. Humphries, E. M. Sharp, S. Jordan, R. Kumar-Singh and P. Humphries, Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin, Genomics, 11, (4), 1991, p1170-1
R. Kumar-Singh, D. G. Bradley, G. J. Farrar, M. Lawler, S. A. Jordan and P. Humphries, Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4), Human genetics, 86, (5), 1991, p502-4
G. J. Farrar, P. Kenna, S. A. Jordan, R. Kumar-Singh, M. M. Humphries, E. M. Sharp, D. M. Sheils and P. Humphries, A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa, Nature, 354, (6353), 1991, p478-80
G. J. Farrar, P. McWilliam, D. G. Bradley, P. Kenna, M. Lawler, E. M. Sharp, M. M. Humphries, H. Eiberg, P. M. Conneally, J. A. Trofatter and et al., Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity, Genomics, 8, (1), 1990, p35-40
M. M. Humphries, D. Sheils, M. Lawler, G. J. Farrar, P. McWilliam, P. Kenna, D. G. Bradley, E. M. Sharp, E. F. Gaffney, M. Young and et al., Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form, Genomics, 7, (3), 1990, p377-81
G. J. Farrar, P. Kenna, R. Redmond, P. McWilliam, D. G. Bradley, M. M. Humphries, E. M. Sharp, C. F. Inglehearn, R. Bashir, M. Jay and et al., Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe, American journal of human genetics, 47, (6), 1990, p941-5
G. J. Farrar, P. McWilliam, E. M. Sharp, P. Kenna, D. G. Bradley, M. M. Humphries, D. J. McConnell and P. Humphries, Autosomal dominant retinitis pigmentosa: exclusion of a gene from extensive regions of chromosomes 6, 13, 20, and 21, Genomics, 5, (3), 1989, p612-8
S. P. Daiger, M. M. Humphries, N. Giesenschlag, E. Sharp, P. McWilliam, J. Farrer, D. Bradley, P. Kenna, D. J. McConnell, R. S. Sparkes and et al., Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups, Cytogenetics and cell genetics, 50, (4), 1989, p181-7
D. G. Bradley, G. J. Farrar, E. M. Sharp, P. Kenna, M. M. Humphries, D. J. McConnell, S. P. Daiger, P. McWilliam and P. Humphries, Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus, American journal of human genetics, 44, (4), 1989, p570-6
P. McWilliam, G. J. Farrar, P. Kenna, D. G. Bradley, M. M. Humphries, E. M. Sharp, D. J. McConnell, M. Lawler, D. Sheils, C. Ryan and et al., Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3, Genomics, 5, (3), 1989, p619-22
Non-Peer-Reviewed Publications
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
Millington-Ward S, Palfi A, Finnegan L, Post I, Stitt A, Kenna PF, Chadderton N, Farrar GJ.., Retina 2022, 2022
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
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
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
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
National Cell Gene and Vaccine Forum, The case for cell and gene therapy manufacturing in Ireland, 2019
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
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
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
Research Expertise
Description
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.Recognition
Representations
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.
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.
Member of the Scientific Advisory Board of Foundation Fighting Blindness, US. Role involves reviewing grant applications and making funding decisions.
Member of the Editorial Board of Progress in Retinal Eye Research. Role in reviewing and editing scientific publications for the Journal.
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.
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.
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.
External review panel for Sparing Vision, Ltd. Role in reviewing clinical trial design for clinical trials planned and sponsored by Sparing Vision.
External Examiner for PhD theses: University College London University of Leeds University of Aberdeen University College Cork University of Galway
Member of the Scientific Advisory Board, Retina UK Role involves reviewing of grant applications. Considering funding strategies for the organisation.
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.
Member of the Board of Trinity Institute of Neuroscience (TCIN). Role in reviewing operational and scientific aspects of the Institute.
Awards and Honours
Trinity Innovation Awards 2017 " Celebrating Innovative Research
SFI - Best Reported Impact Award
Wellcome Trust University Award Fellowship
Fellow Trinity College Dublin (FTCD)
Nominated/shortlisted for Royal Irish Academy/American Chamber of Commerce, US-Ireland Research Innovation Award
Geraldine Duggan Award
Memberships
Member of the Board of the Royal Victoria Eye and Ear Hospital, Dublin, Ireland.
Member of Foundation Fighting Blindness Scientific Advisory Board, United States of America (US).
Member of the Retina UK Scientific Advisory Board, UK.
Member of the External Scientific Advisory Board for the EU UshTher Gene Therapy Consortium, headquartered Naples, Italy.
Member of the National Cell, Gene and Vaccine Forum, Ireland.
Member of the Board of the Trinity Institute of Neuroscience (TCIN), Dublin.
Member of the External Review Board for the Institut de la Vision, Paris, France.
Member of the Board of Genable Technologies
Member of the Royal Irish Academy Life and Health Sciences Committee
Member of the Scientific Advisory Board of Spark Therapeutics, Philadelphia, US.
Member of the Royal Irish Academy (RIA) of the Genomics working group of the RIA Life and Health Sciences committee
Member of the Association for Research in Vision and Ophthalmology (ARVO)
Member of Fighting Blindness Ireland Research Strategy Group - Academic Lead
Member of the Board of Vzarii Therapeutics