Genetics (Theses and Dissertations): Recent submissions
Now showing items 1-20 of 195
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Ancient Genomics and Human Health
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)Studies of ancient DNA over the last decade have been pivotal in answering archaeological, evolutionary and ecological questions. More recently, this data has also been used in the analysis of human health in the past, in ... -
Investigating the roles of SMARCA4 and EP300 in synovial sarcoma
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)Synovial sarcoma is a rare and aggressive cancer that accounts for approximately 10% of all soft tissue sarcomas diagnosed annually. This malignancy is caused by a characteristic fusion protein known as SS18- SSX and is ... -
Using Micro-Synteny for Phylogenetic Inference and Analysis
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)Phylogenetics is the study of the evolutionary relationships and history of groups of organisms. Over the past twenty years, the burgeoning number of sequenced genomes has revolutionised the field of phylogenetics taking ... -
Modulation of mitochondrial function as a therapeutic strategy for Stargardt disease and an exploration of the genetic architecture of Stargardt disease in Ireland
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)Inherited retinal degenerations (IRDs) are an extremely heterogeneous group of disorders, together representing the most common cause for vision loss in young people. An estimated 5.5 million people globally are living ... -
Gene duplication in the coral genus Acropora
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)Whole Genome Duplications (WGD) pose major evolutionary events, giving rise to increased gene diversity. They have often been associated with major changes e.g. mass extinctions. The coral genus Acropora is a reef-building ... -
Detection of pleiotropic repeat expansions and their oligogenic contribution to amyotrophic lateral sclerosis
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)This thesis aims to advance our understanding of the genetic mechanisms that contribute to amyotrophic lateral sclerosis (ALS). The focus is on investigating pleiotropy in genetic contributors to ALS by examining the ... -
Characterisation of the Genetic Mechanism Behind Floral Trichomes in Brassica rapa
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)In his seminal essay ?The Metamorphosis of Plants?, published in the 18th century, Johann Wolfgang von Goethe hypothesized that all above-ground organs of a plant, including floral organs, are derived from leaf-like ... -
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 ... -
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 ... -
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 ... -
Examining the Role of Ataxin-2 Protein and its Domains in Cellular Function, Translational Control and Neurodegeneration
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)Ataxin-2 (ATXN2) is a gene implicated in spinocerebellar ataxia type II (SCA2), amyotrophic lateral sclerosis (ALS) and Parkinsonism. The encoded protein is a therapeutic target for ALS and related conditions. ATXN2 (or ... -
RNP granules-dependent translational regulation in habituation and development
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)Habituation is defined as a reduced behavioral response to a stimulus after repeated or continuous exposure. Long-term habituation (LTH) is a long-lasting form of non-associative memory which is dependent on de novo protein ... -
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 ...