School of Genetics & Microbiology: Recent submissions
Now showing items 61-80 of 911
-
Understanding the Role of Host Factors in the Modulation of Virulence Factors of Staphylococcus aureus.
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Microbiology, 2023)Staphylococcus aureus is adept at colonising and infecting the human host. Host factors are known to influence pathogen physiology and this thesis aimed to examine the effects of human bile and human plasmin on S. aureus. ... -
Comparing Pathways for Retinal and Neuronal Degeneration in Drosophila melanogaster
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)Past work to understand the mechanisms of cellular degeneration has either focused on retinal degeneration or neurodegeneration. These studies have revealed that the integrated stress response (ISR) and RNA binding proteins ... -
Retrieval of DNA from ancient material and the demography of the extinct aurochs
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)Ancient DNA has revolutionised our understanding of animal genomics by providing direct evidence of the demography of ancient wild populations and unravelling the complex domestication process with time-stamped precision. ... -
Investigation of transcriptome changes during flower development using third-generation sequencing and inducible gene perturbation approaches
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)Over the last 30 years, flower development has been intensively studied us- ing a wide range of genetic and molecular methods. Much of this work was guided by the ABC model of floral organ identity specification, which ... -
The inner blood retinal barrier in ocular disease and circadian regulation: its role in age related macular degeneration development and other neuro-ophthalmology disorders
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)Age related macular degeneration (AMD) is one of the most common causes of irreversible sight loss worldwide. The initial pathophysiological events that occur in AMD are poorly understood, with most research focusing on ... -
Investigating Polycomb group proteins as genetic dependencies in H3-K27M mutant paediatric glioma.
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)Polycomb group proteins play an important role in the maintenance of cellular identity by contributing to transcriptional repression through the regulation of chromatin structure. These proteins form two main multimeric ... -
Distinct phenotypes and transcriptomes of tup1 and cyc8 mutants suggest novel roles for TUP1 and CYC8 in Saccharomyces cerevisiae
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Microbiology, 2023)The Tup1-Cyc8 (Ssn6) co-repressor complex is a regulator of gene transcription in the yeast Saccharomyces cerevisiae. This project provides insights into the distinct roles of Tup1p and Cyc8p in gene repression, identifies ... -
Claudin-5 expression at the Blood Brain Barrier and its therapeutic potential in neurological disease
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)Breakdown of the blood brain barrier's (BBB) integrity is a hallmark pathology in numerous neurological disorders. However, while research and therapeutic development has mostly focussed on neuronal function, the high ... -
Exploring the Genetics of Unresolved Inherited Retinal Diseases in Ireland
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)The Target 5000 study was established in 2009 with a primary goal to develop a national care pathway for inherited retinal disease patients in Ireland. Participants first undergo a clinical assessment, which includes ... -
Stasis and flux: A genomic study of 20,000 years of European prehistory.
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)This thesis presents whole-genome shotgun sequencing data from 79 ancient humans, spanning 20,000 years of European prehistory, from the Upper Palaeolithic to the Iron Age. The aim of this research was to fill in missing ... -
RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models
(2023)Age-related macular degeneration (AMD) is the most common cause of blindness in the aged population. However, to date there is no effective treatment for the dry form of the disease, representing 85–90% of cases. AMD is ... -
Molecular inversion probe-based sequencing of ush2a exons and splice sites as a cost-effective screening tool in ush2 and arrp cases
(2021)A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. ... -
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 ... -
MFRP -Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report
(2022)The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective clinical management while narrowing the genetic spectrum for targeted molecular diagnostics. This case study describes ... -
siRNA targeting Schlemm's canal endothelial tight junctions enhances outflow facility and reduces IOP in a steroid-induced OHT rodent model
(2021)Systemic or localized application of glucocorticoids (GCs) can lead to iatrogenic ocular hypertension, which is a leading cause of secondary open-angle glaucoma and visual impair ment. Previous work has shown that ... -
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 ... -
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 ... -
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases
(2022)Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age-related ... -
AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice
(2022)Recombinant adeno-associated virus (AAV) vectors are one of the main gene delivery vehicles used in retinal gene therapy ap proaches; however, there is a need to further improve the effi cacy, tropism, and safety of these ... -
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 ...
