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Professor Peter Humphries

Adjunct Professor (Genetics)

 


  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
Campbell, M. and Cassidy, P.S. and O'Callaghan, J. and Crosbie, D.E. and Humphries, P., Manipulating ocular endothelial tight junctions: Applications in treatment of retinal disease pathology and ocular hypertension, Progress in Retinal and Eye Research, 62, 2018, p120-133 , Notes: [cited By 0], Journal Article, PUBLISHED  TARA - Full Text  DOI
Tam L.C.S, Reina-Torres E, Sherwood J.M, Cassidy P.S, Crosbie D.E, LÃ"tjen-Drecoll E, FlÃ"gel-Koch C, Perkumas K, Humphries M.M, Kiang A.-S, O'Callaghan J, Callanan J.J, Read A.T, Ethier C.R, O'Brien C, Lawrence M, Campbell M, Stamer W.D, Overby D.R, Humphries P, Enhancement of outflow facility in the murine eye by targeting selected tight-junctions of Schlemm's canal endothelia, Scientific Reports, 7, 2017, p40717-, Notes: [Export Date: 20 February 2017], Journal Article, PUBLISHED  TARA - Full Text  DOI  URL
O'Callaghan, J. and Cassidy, P.S. and Humphries, P., Open-angle glaucoma: therapeutically targeting the extracellular matrix of the conventional outflow pathway, Expert opinion on therapeutic targets, 21, (11), 2017, p1037-1050 , Notes: [cited By 1], Journal Article, PUBLISHED  DOI
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-, Notes: [cited By 0], Journal Article, PUBLISHED  TARA - Full Text  DOI
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, Notes: [cited By 0], Journal Article, PUBLISHED  TARA - Full Text  DOI
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 , Notes: [cited By 2], Journal Article, PUBLISHED  TARA - Full Text  DOI
O'Callaghan, J. and Crosbie, D.E. and Cassidy, P.S. and Sherwood, J.M. and FlÃŒgel-Koch, C. and LÃŒtjen-Drecoll, E. and Humphries, M.M. and Reina-Torres, E. and Wallace, D. and Kiang, A.-S. and Campbell, M. and Stamer, W.D. and Overby, D.R. and O'Brien, C. and Tam, L.C.S. and Humphries, P., Therapeutic potential of AAV-mediated MMP-3 secretion from corneal endothelium in treating glaucoma, Human Molecular Genetics, 26, (7), 2017, p1230-1246 , Notes: [cited By 6], Journal Article, PUBLISHED  DOI
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 -, Notes: [Export Date: 20 February 2017], Journal Article, PUBLISHED  TARA - Full Text  DOI  URL
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, Notes: [Cited By :1 Export Date: 20 February 2017], Journal Article, PUBLISHED  DOI  URL
Palfi Arpad, Chadderton Naomi, O'reilly Mary, Nagel-Wolfrum Kerstin, Wolfrum Uwe, Bennett Jean, Humphries Peter, Kenna Paul, Millington-Ward Sophia, Farrar Jane, Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rhoâ, '/â, ' mouse , Molecular Therapy-Methods & Clinical Development , 2 , 2015, p15016 -, Journal Article, PUBLISHED  TARA - Full Text
  

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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.