Browsing School of Genetics & Microbiology by Title
Now showing items 573-592 of 873
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Olfactory-avoidance habituation in Drosophila melanogaster
(Trinity College (Dublin, Ireland). Department of Genetics, 2015)Habituation is a form of sensory filtering in response to prolonged or repeated stimuli in the environment [Harris, 1943; Thompson and Spencer, 1966; Christoffersen, 1997; Rankin et al., 2009], It provides biological ... -
On the development of animal models for degenerative retinal disease
(Trinity College (Dublin, Ireland). Department of Genetics, 2000)Retinitis pigmentosa (RP) is one of the leading causes of inherited blindness within the working population of many developed countries. There is presently no cure for this disorder. The projects outlined in this thesis ... -
On the development of molecular approaches to therapy for retinitis pigmentosa
(Trinity College (Dublin, Ireland). Department of Genetics, 2013)Endothelial cells lining the microvasculature of the retina have highly evolved “tight junctions” reducing the space between adjacent cells to form a selective and highly regulatable barrier called the inner blood-retina ... -
On the genetics of retinal function and disease
(Trinity College (Dublin, Ireland). Department of Genetics, 2006)There are many recorded examples in which genetic background has been shown to radically influence retinal phenotypes in inbred mouse strains. For example, the manifestations of a targeted knockout of the p53 gene are much ... -
On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention
(Nature Publishing Group, 2002)Retinitis pigmentosa (RP), the group of hereditary conditions involving death of retinal photoreceptors, represents the most prevalent cause of visual handicap among working populations in developed countries. Here we ... -
On the molecular genetics of bipolar affective disorder
(Trinity College (Dublin, Ireland). Department of Genetics, 2005)This thesis describes genome-wide gene mapping analyses as applied to bipolar affective disorder (BPAD). This condition is a severe recurrent psychiatric disorder, with a substantial familial component and an estimated ... -
On the molecular genetics of bipolar disorder
(Trinity College (Dublin, Ireland). Department of Genetics, 2003)A modified genome scan, concentrating primarily on gene rich regions of the genome was employed by this group to search for regions harboring susceptibility loci for bipolar disorder in a panel of 48 Irish sib-pair families ... -
On the molecular genetics of hereditary degenerative retinopathies
(Trinity College (Dublin, Ireland). Department of Genetics, 2004)The central aim of this thesis was the elucidation of the underlying molecular pathologies of inherited diseases of the retina. The main focus of study concentrates on the molecular genetics and disease mechanisms in ... -
On the molecular genetics of retinal dystrophies and glaucoma
(Trinity College (Dublin, Ireland). Department of Genetics, 2000)The central aim of this thesis was the elucidation of the underlying molecular pathologies of inherited diseases of the eye. Previous linkage studies on a large Spanish kindred (family FA-84), segregating adRP, resulted ... -
On the role of caspase-recruitment domain proteins in apoptosis and NFkB activation
(Trinity College (Dublin, Ireland). Department of Genetics, 2002)Apoptosis and NFkB activation are two physiological processes that are essential for host mediated response to cellular injury. Apoptosis is a mechanism that removes damaged or unwanted cells. NFkB is a transcription factor ... -
On the Use of Machine Learning in Genomic Prediction
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)This thesis explores the use of machine learning in the context of genomic prediction and the issue of confounding in such approaches. Traditionally, genomic prediction methods have made use of linear models with much ... -
Oncogene-induced autophagy and the Goldilocks principle
(2011)Although several oncogenes enhance autophagic flux, the molecular mechanism and consequences of onco - gene-induced autophagy remain to be clarified. We have recently shown that expression of oncogenic H-Ras V12 ... -
Oncogenic Ras-Induced Expression of Noxa and Beclin-1 Promotes Autophagic Cell Death and Limits Clonogenic Survival
(2011)Deregulated oncogenes such as MYC and RAS are typically insufficient to transform cells on their own due to the activation of pathways that restrain proliferation. Previous studies have shown that oncogenic H-Ras can induce ... -
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes
(2023)Purpose: Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that ... -
Optimisation of a suppression and replacement therapeutic strategy for animal models of rhodopsin-linked autosomal dominant Retinitis Pigmentosa
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2012)The focus of research presented in this PhD thesis was optimising a therapeutic strategy for an inherited retinal disorder termed Retinitis Pigmentosa (RP). RP is a disease in which the photoreceptors progressively degenerate. ... -
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
(2023)AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical ... -
Optimisation of therapies for inherited retinal and mitochondrial diseases
Inherited retinal degenerations (IRDs) are the most frequent cause of vision loss in people of working age. They have highly varied causes and pathophysiologies, and are typically incurable. Gene therapy has emerged as a ... -
Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction
(2020)Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically associated with Dominant Optic Atrophy ... -
Origins and genetic legacies of the Caribbean Taino
(2018)Ancient DNA has revolutionized the field of archaeology, but in the Caribbean and other tropical regions of the world, the work has been hampered by poor DNA preservation. We present an ancient human genome from the Caribbean ... -
Over-expression of SNAP-25 in neuronal tissues
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2012)The work described within this PhD thesis represents many years work on several different projects. In brief, SNAP-25 was identified as a downregulated candidate gene of interest from a comparative microarray study in the ...