Genetics (Theses and Dissertations): Recent submissions
Now showing items 41-60 of 218
-
Understanding the role of Polycomb-like proteins in cellular quiescence and cancer
Polycomb proteins are a class of chromatin modifying complexes that are essential regulators of development, differentiation and maintenance of cell lineage. Polycomb proteins exist in two large, distinct, multimeric ... -
Genetic structure and trait estimation in ancient Europeans
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)The study of ancient human populations have mostly been carried out, until recently, by historians through the study of written records and ancient manufacts. Thanks to recent technological and theoretical advancements in ... -
Mechanisms of action and vulnerabilities associated with the oncogene EZH2 in germinal centre B-cell non-Hodgkin lymphoma
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)Polycomb group (PcG) proteins are highly conserved chromatin regulators that play a critical role as transcriptional repressors in mediating and maintaining cellular identity. PcG proteins assemble into large, distinct, ... -
Genetic heterogeneity in amyotrophic lateral sclerosis and related disorders
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)The overarching aim of this thesis is to clarify and further our understanding of the genetic causes of amyotrophic lateral sclerosis (ALS) and related diseases. It is hoped that achieving this can help bring clarity to ... -
Identifying Blood-Brain Barrier Pathologies and Novel Therapeutic Targets in Epilepsy and Neuropsychiatric Disorders
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)The blood-brain barrier (BBB) is vital for maintaining homeostasis of the neural microenvironment. Tight junctions composed of the transmembrane proteins claudin-5 and occludin contribute to the function of this barrier ... -
Exploration of gene therapies targeting oxidative stress and NAD+ pathways for the treatment of optic neuropathy
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)The World Health Organisation estimates that there are approximately 300 million people suffering from some form of blindness, from inherited retinal degenerations to complex diseases such as glaucoma. The vast heterogeneity ... -
Using an automated ocular vascular analysis software tool to evaluate the role of the inner blood retinal barrier in AMD pathogenesis and examining its application in neurological disorders
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)Despite being the most common cause of central retinal blindness globally, there is no treatment for end stage dry age related macular degeneration (AMD). The prevailing school of thought with regard to AMD pathogenesis ... -
Understanding the role of accessory components in regulation of the Polycomb Repressive Complex 2 in mESCs and cancer
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)Polycomb Repressive Complex 2 is a chromatin regulatory complex composed of core subunits EZH1/2, EED, SUZ12 and RBBP4/7, around which several accessory components assemble in a mutually exclusive manner to form structurally ... -
A characterisation of gene duplicability: its determining factors and impact on duplicate evolution
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)Duplication, either through whole genome duplication or small-scale duplication, is a critical process in evolution. The duplication of genetic material provides ample opportunity for adaptation and innovation through the ... -
Exploring the functions of PRC2 in development and congenital disorders
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)Polycomb group (PcG) proteins are key chromatin-based repressors of gene expression that play important roles in lineage-specification and cellular memory. PcG proteins assemble into multi-subunit complexes, termed Polycomb ... -
Development of gene therapies for retinal degenerations
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)The studies described in this thesis explore potential gene therapies for retinal degenerative diseases using adeno-associated virus (AAV) vectors for gene delivery. Inherited retinal degenerations (IRDs) are a leading ... -
Novel therapeutic approaches for open-angle glaucoma
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)Glaucoma is the leading cause of blindness worldwide after cataracts and it is estimated that the global prevalence of glaucoma will increase to 111.8 million by 2040 (1, 2). Primary open-angle glaucoma (POAG) is characterized ... -
Investigating the molecular mechanisms that control the transformation of leaves into floral organs.
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)Arabidopsis thaliana is the model plant which has been used to elucidate the molecular and genetic processes which underlie floral organogenesis. This is the process in which the four floral organs are formed which is ... -
Colony Stimulating Factor 1 Receptor and Blood-Brain Barrier Maintenance
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)Cerebrovascular pathologies occur in up to 80% of cases of Alzheimer's disease; however, the underlying mechanisms that lead to perivascular pathology and accompanying blood-brain barrier (BBB) disruption are still not ... -
Characterising the effects of sex interaction, pleiotropy and local population structure on ALS GWAS
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)In the past decade, increasingly large-scale genome wide association studies (GWAS) have gleaned insights into the genetic architecture of a range of human traits. Widespread sharing of summary statistics for these GWAS ... -
Investigating the Circadian Regulation of the Inner Blood Retinal Barrier in Early and Intermediate Age-Related Macular Degeneration
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)Age-related macular degeneration (AMD) is the leading cause of central visual impairment worldwide. It is a multifactorial condition leading to the painless, progressive loss of central vision. There are currently no ... -
Fundus Fluorescein Angiography (FFA) in Human Subjects Displays Circadian Variation
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)The relationship between retinal inner blood-retina barrier (iBRB) permeability, the circadian clock and their possible role in retinal pathology is unknown. We performed quantitative fundus fluorescein angiography (FFA) ... -
Exploration of an AAV-mediated TULP1 replacement gene therapy and characterization of the Tulp1-/- murine model
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2020)The vertebrate family of tubby-like proteins (TULPs) include the founding member TUB and related members of the tubby-like protein family such as TULP1, TULP2, TULP3, TULP4. TULP1 encoded by TULP1 gene is believed to play ... -
Investigating the Role of the 3'UTR of Claudin-5 and Circadian Rhythms at Tight Junctions in the Blood-Brain Barrier
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2020)The blood-brain barrier (BBB) is comprised of the vasculature surrounding the central nervous system (CNS), and most importantly consists of endothelial cells. These brain endothelial cells have unique properties that ... -
Functional assessment of non-coding regulatory variants in familial breast cancer
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2020)Breast cancer is the most common cancer in Irish women, with almost 3,000 cases diagnosed every year. It often runs in families, and some women inherit a greater risk of developing the disease. Landmark studies on these ...
