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Trinity College Dublin

Personal Information
College Photo Name Humphries, Peter
Main Department Genetics
College Title Professor of Medical Molecular Genetics
E-mail pete.humphries@tcd.ie
College Tel +353 1 896 1547
Web http://people.tcd.ie/phumphrs
 
Membership of Professional Institutions, Associations, Societies
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
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Description of Research Interests
Human Molecular/Medical Genetics with special interest in hereditary neurodegenerative diseases of the retina
 
Research Interests
A-WAVE 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 B-WAVE BASEMENT-MEMBRANE
BCL-2 BINDING BLOOD BLUE
BMT BONE BONE-MARROW TRANSPLANTATION BUPHTHALMOS
C-FOS CAENORHABDITIS-ELEGANS CARCINOMA CAT
CELL-DEATH CELLS 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 IN-VITRO INTERMEDIATE FILAMENTS INTERMEDIATE-SIZED FILAMENTS
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
 
Publications
Peer Reviewed
KENNAN, A, AHERNE, A, PALFI, A, HUMPHRIES, M, MCKEE, A, STITT, A, SIMPSON, DAC, DEMTRODER, K, ORNTOFT, T, AYUSO, C, KENNA, PF, FARRAR, GJ, HUMPHRIES, P, 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, 2002, p547 - 557
OREILLY, M, IN VIVO SELECTION FROM A PHAGE DISPLAY LIBRARY OF PEPTIDES CAPABLE OF TARGETING THE RETINA., unknown, 2001, 69, ISI Web of Science, 2001, pp677
TUOHY, GP, IN VIVO ANALYSIS OF PHOTORECEPTOR DEGENERATION IN LIGHT-INDUCECD LACA MICE AND IN VITRO RIBOZYME CLEAVAGE OF KEY MRNA TARGETS INVOLVED IN APOPTOTIC MEDIATED CELL DEATH. IN VIVOLN VITRO., unknown, 1999, 65, ISI Web of Science, 1999, ppA503 - A503
HUMPHRIES, MM, RETINOPATHY INDUCED IN MICE BY TARGETED DISRUPTION OF THE RHODOPSIN GENE, NATURE GENETICS, 15, 1997, p216 - 219
FARRAR, GJ, A 3-BASE-PAIR DELETION IN THE PERIPHERIN-RDS GENE IN ONE FORM OF RETINITIS-PIGMENTOSA, NATURE, 354, 1991, p478 - 480
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Last Updated:12-FEB-2012