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Professor Peter Humphries

Fellow Emeritus (Genetics)


Fellow Emeritus (Trinity Inst. of Neurosciences (TCIN))

Details Date From Date To
Retina International (IRPA)-Scientific and Medical Advisory Board
Foundation Fighting Blindness (USA)-Focus Group on Genetics and Genetic Technology
Dystrophic Epidermolysis Bullosa Research Association (DEBRA)-International Medical and Scientific Advisory Board
Member, Alcon Research Institute (USA)
Communicating Editor, Human Mutation
The Human Genome Organisation (HUGO)- Founder Irish Member
Editorial Board, Human Molecular Genetics
Irish Society of Human Genetics (President)
American Society of Human Genetics
Association for Research in Vision and Ophthalmology
Trinity College Neurosciences Institute (TCIN)
All-Ireland Retinal Researchers Network
Irish Network of Neuronal Stem-cell Investigators
Biopharmaceutical Sciences, Network
Fighting Blindness Ireland Medical and Scientific Advisory Board
Member of European Molecular Biology Organization
AMD (Age-Related Macular Dystrophy) Alliance International Scientific Advisory Panel
Medical Research Council (UK) Advisory Panel
Member, College of Reviewers for the Canada Research Chairs Programme
DSc University of Seged
Member, Royal Irish Academy
Fellow, Trinity College Dublin
Chadderton, N. and Palfi, A. and Maloney, D.M. and Carrigan, M. and Finnegan, L.K. and Hanlon, K.S. and Shortall, C. and O†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, Notes: [cited By 0], Journal Article, PUBLISHED  TARA - Full Text  DOI
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, Notes: [cited By 0], Journal Article, PUBLISHED  TARA - Full Text  DOI
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 , Notes: [cited By 0], Journal Article, PUBLISHED  TARA - Full Text  DOI
McDowell, C.M. and Kizhatil, K. and Elliott, M.H. and Overby, D.R. and van Batenburg-Sherwood, J. and Cameron Millar, J. and Kuehn, M.H. and Zode, G. and Acott, T.S. and Anderson, M.G. and Bhattacharya, S.K. and Bertrand, J.A. and Borras, T. and Bovenkamp, D.E. and Cheng, L. and Danias, J. and De Ieso, M.L. and Du, Y. and Faralli, J.A. and Fuchshofer, R. and Ganapathy, P.S. and Gong, H. and Herberg, S. and Hernandez, H. and Humphries, P. and John, S.W.M. and Kaufman, P.L. and Keller, K.E. and Kelley, M.J. and Kelly, R.A. and Krizaj, D. and Kumar, A. and Leonard, B.C. and Lieberman, R.L. and Liton, P. and Liu, Y. and Liu, K.C. and Lopez, N.N. and Mao, W. and Mavlyutov, T. and McDonnell, F. and McLellan, G.J. and Mzyk, P. and Nartey, A. and Pasquale, L.R. and Patel, G.C. and Pattabiraman, P.P. and Peters, D.M. and Raghunathan, V. and Rao, P.V. and Rayana, N. and Raychaudhuri, U. and Reina-Torres, E. and Ren, R. and Rhee, D. and Chowdhury, U.R. and Samples, J.R. and Griffen Samples, E. and Sharif, N. and Schuman, J.S. and Sheffield, V.C. and Stevenson, C.H. and Soundararajan, A. and Subramanian, P. and Sugali, C.K. and Sun, Y. and Toris, C.B. and Torrejon, K.Y. and Vahabikashi, A. and Vranka, J.A. and Wang, T. and Willoughby, C.E. and Xin, C. and Yun, H. and Zhang, H.F. and Fautsch, M.P. and Tamm, E.R. and Clark, A.F. and Ross Ethier, C. and Daniel Stamer, W., Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms, Investigative Ophthalmology and Visual Science, 63, (2), 2022, Notes: [cited By 1], Journal Article, PUBLISHED  DOI
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, Journal Article, PUBLISHED  TARA - Full Text  DOI
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, Notes: [cited By 1], Journal Article, PUBLISHED  DOI
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 , Notes: [cited By 2], Journal Article, PUBLISHED  TARA - Full Text  DOI
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 , Notes: [cited By 0], Journal Article, PUBLISHED  TARA - Full Text  DOI
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, Notes: [cited By 0], Journal Article, PUBLISHED  TARA - Full Text  DOI
Maloney, D.M. and Chadderton, N. and Millington-Ward, S. and Palfi, A. and Shortall, C. and O†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, Notes: [cited By 0], Journal Article, PUBLISHED  TARA - Full Text  DOI

Page 1 of 34
Modulation of tight junctions for delivery to the brain in, Advances in Non-Invasive Drug Delivery to the Brain, 2015, pp80 - 92, [Keaney J, Humphries P, Campbell M], Book Chapter, PUBLISHED


Globally, over 160 million people are estimated to be visually impaired, in spite of the fact that up to 70% of global visual handicap, caused by cataract, glaucoma, corneal opacities and infection, is treatable or preventable (including most open-angle glaucomas). In the developed World, conditions that are essentially eclipsed by the vastly more common forms of world blindness become very much more visible. These are the hereditary retinopathies (prominent among which is Retinitis Pigmentosa), Age-related Macular Degeneration (AMD) and Proliferative Diabetic Retinopathy (PDR). Also, possibly up to 10% of cases of Open-angle Glaucoma either do not respond adequately, or become resistant to conventional pressure-reducing medications. For three decades, Pete's research has been directed toward understanding the molecular pathologies associated with retinal degeneration, early studies focusing almost exclusively on hereditary retinopathies, for example, in the localization of genes for RP to chromosomes 3q (rhodopsin), 6p (RDS-peripherin) and 7q (inosine monophosphate dehydrogenase 1) and on the generation of targeted murine disease models. As a result of world efforts, it is now clear that hereditary retinopathies possibly represent the most genetically heterogeneous of any group of hereditary conditions for which molecular pathologies have been explored. On one hand, the progressive unfolding of an immensely complex genetic landscape has been inspirational, but on the other, and in a very much more translational sense, this same genetic heterogeneity presents an immensely significant challenge - developing gene medicines for what could be several hundred individually rather rare hereditary conditions is a major logistical and economic hurdle that must now be surmounted. In this regard, a major recent focus of research has been in the development of procedures for modulating permeability at the blood-brain and inner blood retina barriers such as to allow access to the brain and retina of systemically administered low molecular weight potentially protective compounds targeting molecular pathologies common to multiple forms of disease (protein misfolding or aggregation, oxidative stress, neuroprotection, etc) which could be used either singly or in a combinatorial sense together with gene therapies. More recently, multifactorial conditions, including AMD and glaucoma have become a major focus of research. Peter's work on the development of novel aspects of glaucoma therapy is supported by an advanced grant from the European Research Council.