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Professor Peter Humphries

Fellow Emeritus (Genetics)

 

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


  ABNORMALITIES   ABSENCE   ACUTE LYMPHOBLASTIC-LEUKEMIA   ACUTE MYELOID-LEUKEMIA   ADAPTATION   ADRP   ALLOGENEIC MARROW   ALLOGENEIC TRANSPLANTATION   ALPHA-SUBUNIT   ANIMAL MODEL   ANTI-RAS RIBOZYME   ANTISENSE OLIGODEOXYNUCLEOTIDES   APLASTIC-ANEMIA   APOPTOSIS   ARM   ARTIFICIAL-CHROMOSOME VECTORS   AUTOSOMAL DOMINANT INHERITANCE   A-WAVE   BASEMENT-MEMBRANE   BCL-2   BINDING   BLOOD   BLUE   BMT   BONE   BONE-MARROW TRANSPLANTATION   BUPHTHALMOS   B-WAVE   CAENORHABDITIS-ELEGANS   CARCINOMA   CAT   CELL-DEATH   CELLS   C-FOS   CHANNEL   CHILDHOOD CELIAC-DISEASE   CHILDREN   CHOROIDEREMIA   CHROMOSOME   CHROMOSOME-11   CHROMOSOME-3   CHROMOSOME-7Q   CHROMOSOME-POSITIVE LEUKEMIA   CHRONIC GRANULOCYTIC-LEUKEMIA   CLEAVAGE   CLONING   COLLAGEN MESSENGER-RNA   CONE   CONE DYSTROPHY   CONGENITAL STATIONARY NIGHT BLINDNESS   CONSERVATION   CONSTITUTIVE ACTIVATION   CONSTRUCTION   CULTURED-CELLS   CYTOKERATIN GENES   D1S103 LOCUS   D3S47 C17   DEGENERATION   DEGENERATION SLOW RDS   DELETION   DETACHMENT   DINUCLEOTIDE REPEAT POLYMORPHISM   DISEASE   DISK MEMBRANE   DISORDERS   DNA   DNA POLYMORPHISMS   DOMINANT RETINITIS-PIGMENTOSA   EPIDERMOLYSIS BULLOSA   EUKARYOTIC GENOMES   EXPRESSION   FAMILY   FOLDING PROBLEM   FORM   GENE   GENE THERAPY   GENETIC-HETEROGENEITY   GLAUCOMA   GLAUCOMA GENETICS   GLC3A   GRAFT   HAMMERHEAD RIBOZYME   HAMMERHEAD RIBOZYMES   HEMATOLOGIC MALIGNANCIES   HETEROGENEITY   HETEROZYGOSITY   HETEROZYGOUS MISSENSE MUTATION   HLA-DQ   HOST-DISEASE   HUMAN DNA   I COLLAGEN   IDENTIFICATION   IMMUNOFLUORESCENCE MICROSCOPY   INTERMEDIATE FILAMENTS   INTERMEDIATE-SIZED FILAMENTS   IN-VITRO   JUVENILE GLAUCOMA   KERATIN   KINETICS   LINKAGE   LINKAGE ANALYSIS   LOCUS   MAPS   MARROW STROMAL CELLS   MICROSATELLITES   MOLECULAR-CLONING   MOLECULAR-GENETICS   MOSAIC   MUTANT MICE   MUTATION   MUTATIONS   MYELOID-LEUKEMIA   MYOCILIN   NONHEMATOPOIETIC TISSUES   PATHOGENESIS   PCR   PCR DETECTION   PHOSDUCIN PDC   PHOTORECEPTOR DEGENERATION   POINT MUTATIONS   POLYMERASE CHAIN-REACTION   PREDICTION   PREVALENCE   PRIMARY CONGENITAL GLAUCOMA   PROLACTIN   PROTEIN   RECURRENCE   REGION   RETINAL DEGENERATIVE DISEASES   RETINITIS-PIGMENTOSA   RHODOPSIN   RHODOPSIN GENE   RIBOZYME-MEDIATED CLEAVAGE   RNA   ROD PHOTORECEPTORS   SECONDARY-STRUCTURE   SEQUENCE   SHORT ARM   SITES   SUBUNIT   TIGR   TURNER SYNDROME   VITRO
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
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  DOI
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, Notes: [cited By 0], Journal Article, PUBLISHED  TARA - Full Text  DOI
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, Notes: [cited By 1], Journal Article, PUBLISHED  TARA - Full Text  DOI
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, Notes: [cited By 3], Journal Article, PUBLISHED  TARA - Full Text  DOI
Ozaki, Ema, Gibbons, Luke, Neto, Nuno GB, Kenna, Paul, Carty, Michael, Humphries, Marian, Humphries, Pete, Campbell, Matthew, Monaghan, Michael, Bowie, Andrew and Doyle, Sarah L, SARM1 deficiency promotes rod and cone photoreceptor cell survival in a model of retinal degeneration, Life Science Alliance, 3, (5), 2020, Journal Article, PUBLISHED  TARA - Full Text  DOI
Whelan, L. and Dockery, A. and Wynne, N. and Zhu, J. and Stephenson, K. and Silvestri, G. and Turner, J. and O†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, Notes: [cited By 6], Journal Article, PUBLISHED  DOI
Reina-Torres, E. and Bertrand, J.A. and O'Callaghan, J. and Sherwood, J.M. and Humphries, P. and Overby, D.R., Reduced humidity experienced by mice in vivo coincides with reduced outflow facility measured ex vivo, Experimental Eye Research, 186, (107745), 2019, Notes: [cited By 0], Journal Article, PUBLISHED  DOI
Crosbie, D.E. and Keaney, J. and Tam, L.C.S. and Daniel Stamer, W. and Campbell, M. and Humphries, P., Age-related changes in eye morphology and aqueous humor dynamics in DBA/2J mice using contrast-enhanced ocular MRI, Magnetic Resonance Imaging, 59, 2019, p10-16 , Notes: [cited By 0], Journal Article, PUBLISHED  DOI
  

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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.