Genetics (Theses and Dissertations)

The ophthalmic manifestations of neurological disease

O'Riordan, Matthew (Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)

The retina is responsible for visual processing by converting light signals into nerve impulses. It comprises both the central retina, termed the macula, and the peripheral retina. There are several subtypes of peripheral ...

Characterisation of the floral transcriptome of Sinapis alba and analysis of PRC2 accessory proteins in Arabidopsis thaliana

Ó Beacháin, Seosamh (Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)

Flower development has been studied in the model organism Arabidopsis thaliana for decades. Years of research into the development of the floral organs - carpels, stamens, petals and sepals - led to the formation of the ...

Investigating the recruitment, interactions, and activity of Polycomb proteins in development and disease.

Tuck, Ellen (Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)

Polycomb group proteins are chromatin regulators associated with transcriptional repression of developmentally important genes. They assemble into multiprotein complexes, including Polycomb Repressive Complex 1 (PRC1) and ...

Investigating the roles of the floral-associated genes TRIPTYCHON, SHATTERPROOF and AGAMOUS in Arabidopsis thaliana and Brassica rapa

Breathnach, Caoilfhionn (Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)

The genetic mechanisms responsible for flower development has been studied for over four decades now in Arabidopsis thaliana, a model organism for plants. However, more recently, plant research has become increasingly ...

RNP Granules and Neurodegeneration: Molecular Strategies to Regulate Condensation and Aggregation

Brown, Georgia (Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)

Eukaryotic cell organisation is classically described in terms of a cytoplasm and discrete, membrane-bound organelles enclosed within a plasma membrane. However, more recently it has been recognised that cells also organise ...

The role of non-coding regulatory elements and PRC2 proteins in disease and development

Matra, Francesca (Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)

Nucleosomes are the basic repeating units of chromatin. Not only do they provide a way to package the DNA into a tight nucleus, but they also contribute to the regulation of our genome. Composed of histone proteins, ...

Ancient Genomics and Human Health

Jackson, Iseult Sarah (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

Doherty, Anthony (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

Casey, Dearbhaile (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

Post, Iris Johanna (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

De Sampaio Kalkuhl, Alice (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

Hengeveld, Jennifer Christine (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

Fitzsimons, Christina (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

Thuery, Guillaume Charles (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

Rossi, Conor (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

Finocchio, Andrea (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

O'Leary, Fionn Timothy (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 ...