Genetics: Recent submissions
Now showing items 41-60 of 578
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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 ... -
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 ... -
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 ...
