Genetics and Genomics Commons^™

Development Of Self-Assembled Polymeric Polyplexes For Microrna Delivery: Toward Treatment Of Alcohol-Associated Liver Disease, Marjina Akter Kalpana

Theses & Dissertations

Self-assembled polymeric polyplexes have the potential to serve as an RNA interference (RNAi) delivery platform for the combined inhibition of CXCR4 and miR-155 in the treatment of alcohol-associated liver disease (AALD). A central challenge in RNA delivery is balancing the extracellular stability of polyplexes, cellular uptake, and intracellular release of RNA cargo. We developed polymeric polyplexes using the CXCR4-antagonist polymer PAMD, designed to target CXCR4 on activated hepatic stellate cells (HSCs) and deliver therapeutic miRNA to activated Kupffer cells (KCs) in fibrotic liver. We improved the polyplexes by cholesterol modification of PAMD and by PEGylation of PAMD-Ch. The cholesterol modification …

Orthogonal Comparison Of Nuclear And Mitochondrial Clonal Architectures In Hematologic Malignancies, Nehali Shah

Dissertations and Theses (Open Access)

Acute myeloid leukemia (AML) is a hematologic malignancy characterized by accumulation of mutations that disrupt hematopoietic differentiation and promote clonal expansion. Understanding how these mutations arise and evolve is essential for improving diagnosis, prognosis, and treatment stratification. Current methods are limited by either restricted genomic coverage (targeted panels) or low throughput and high cost (in single-cell whole genome sequencing, scWGS). An emerging alternative is the use of mitochondrial DNA (mtDNA) mutations as clonal markers.

This study aims to determine whether mitochondrial-derived clonal architectures correlate with nuclear-derived clonal architectures in AML, thereby evaluating mtDNA as a scalable orthogonal tool for lineage …

Improved Model For Neurodegeneration In C. Elegans, Jean-Pierre Arditi

Graduate Theses and Dissertations (2019 - present)

During Alzheimer's disease (AD), insoluble amyloid beta (AP) peptides accumulate to form extracellular aggregates (plaques). The direct cause of neuronal dysfunction observed in AD has been broadly investigated. The amyloid hypothesis states that AP plaques are neurotoxic, but recent studies support the AP oligomer hypothesis, which states that intracellular AP (iAP) is neurotoxic. To test this hypothesis, I used CRISPR-Cas9 gene editing to generate two transgenic Caenorhabditis elegans (C. elegans) strains. I generated a strain (RSLl 11) using the rab-3 promoter to co-express GFP in neurons, which showed no gross behavioral changes but had a 50% reduced egglaying rate. RSLl …

Benchmarking Dna Foundation Models For Genomic And Genetic Tasks, Haonan Feng, Lang Wu, Bingxin Zhao, Chad Huff, Jianjun Zhang, Jia Wu, Lifeng Lin, Peng Wei, Chong Wu

School of Medicine Faculty Publications

The rapid evolution of DNA foundation models promises to revolutionize genomics, yet comprehensive evaluations are lacking. Here, we present a comprehensive, unbiased benchmark of five models (DNABERT-2, Nucleotide Transformer V2, HyenaDNA, Caduceus-Ph, and GROVER) across diverse genomic and genetic tasks including sequence classification, gene expression prediction, variant effect quantification, and topologically associating domain (TAD) region recognition, using zero-shot embeddings. Our analysis reveals that mean token embedding consistently and significantly improves sequence classification performance, outperforming other pooling strategies. Model performance varies among tasks and datasets; while general purpose DNA foundation models showed competitive performance in pathogenic variant identification, they were less …

Epigenetic Landscape In Lysosomal Storage Disorders: Mechanisms And Modulation, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) are rare substrate-accumulating diseases primarily characterized by mutations in genes encoding proteins involved in lysosomal function, most of which have enzymatic activity. Resulting lysosomal dysfunction leads to the overaccumulation of non- or partially degraded substrates. While it is true that enzyme deficiency is the primary cause of LSDs, the epigenetic alterations in DNA methylation, miRNA expression, and histone modifications appear to be critical mechanisms involved in the pathogenesis of LSDs. As epigenetic marks are, in most cases, reversible, their study becomes vital to developing strategies aimed at reversing epigenome alterations. Although classical therapeutic alternatives aim to …

Characterization Of Androctonus Mauritanicus Venom And In Vitro Screening Of Sars-Cov-2 Entry Inhibitors Candidates, Reda Chahir, Jacob Galan, Hicham Hboub, Ahmed Salim Lahlou, Salma Chakir, Hinde Aassila, Reda Ben Mrid, Najat Bouchmaa, Reto Stöcklin, Rachid El Fatimy, Naoual Oukkache

Human Genetics Publications

Animal venom, known for its complex biochemical composition, presents a valuable source of therapeutic molecules, particularly for antiviral applications. Despite this potential, the industrial use of venom remains limited, with fewer than a dozen venom-derived compounds reaching commercial markets. This study underscores the significance of exploring venom’s natural diversity as a reservoir for novel bioactive compounds that could drive innovative drug development. We investigated the venom of the Moroccan black scorpion Androctonus mauritanicus (Am), applying solid-phase extraction (SPE) and high-performance reversed-phase liquid chromatography (RP-HPLC) to fractionate the venom into 80 distinct samples. These fractions were subjected to detailed analysis …

Losing Focus In The Age Of Tik Tok: Clinical Evidence For Policy Action On Social Media Use, Megan Conefrey, Robert Griffin

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Tracking Livestock Heart Rate & Location Using Long-Range Radio Networks. An Immediate Solution For Farms Without Reliable Wi-Fi, Dermott Harkin, Martin Bradley

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Voices Matter: Tackling Accentism In Ireland. A Study Addressing Accent-Based Discrimination Awareness In Education, Sadhbh Reddington, Victoria Graham, Holly Jordan, Mairead Moriarty

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Income Inequality And Attitudes Towards Immigrants – How Increased Inequality Drives Division, Niamh Anderson, Vincent O'Sullivan

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Supporting Single Parents: How Loneliness And Self-Stigma Can Impact Single Parents And Their Quality Of Life, Alana Powell, David Mothersill

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Unheard And Underserved: Exploring Support For Male Victims Of Partner Abuse, Michael Keenan, Colletta Dalikeni

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Ireland Blossoms Through Multiculturalism - Designing For Community Connection, Julia Kuczera, Shirley Casey, Hilary Kenna

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Assessing Demand And Simulating Feasibility For Commuter Rail In Lagging Regional Areas. Case Study: Sligo, Holly Briere-Edney, Brian Mccann

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Ireland's Infrastructure: From Delays To Deliveries!, Conor Barnett, Keren Goodman

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

A Fast-Track Way To Identify Derelict And Vacant Homes For Refurbishment, Dylan O'Donnell, Enda Dunican

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Making Buildings Smarter And More Sustainable With Ai, Anthony Lowe, Martin Klepal

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Solving The Bed Crisis - Predicting 30-Day Hospital Readmissions In Elderly Patients Using Ai, Mark Mckeon, Thoa Pham

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

The Impact Of Chronic Pain On Income And Employment, Jordan Vaarsi, Amber Jolly, Karim S. Ladha

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Living The Life: A Community Approach To Men’S Health And Longevity, Paul Anders, Aisling Mcgrath

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

When Care Can’T Move Forward – The Human And Social Cost Of Freezing Of Gait In Parkinson’S Disease, Padraig Cronin, Lucy M. Collins, Aideen M. Sullivan

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Sticky Genes: Can Repeated Dna Sequences Trigger Motor Neurone Disease?, Guste Venslovaite, Russell Mclaughlin

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Life Under Pressure: How Doubling The Genome Affects The Memory Of Environmental Stress In Worms, Aisling Phelan, Emma Bazzani, Clément Verdier, Laetitia Chauve, Aoife Mclysaght

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Pause For Policy - The Cognitive Cost Of Cannabis Use In Adolescence, Michael O'Connor, Linda Kelly, Emma O'Hora, Claire O'Doherty, Ciaran Brown, An Hsu, Sahar Riaz, Frank Crosson, Darren Roddy, Mary Cannon

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

From Recognition To Action: Advancing Nutrition Care In Irish Healthcare, Aoife Gillane, Sarah Donovan, Lisa Ryan

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

The Future Of Metabolic Health: A Needle-Free Alternative For Blood Sugar Monitoring, Conor Cleary, Martin Bradley, Christopher Crosson, John Wade

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Transforming Plastic For A Sustainable Planet: Next-Generation Materials That Biodegrade Naturally, Kristof Racz, Clement Higginbotham

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

The Dock Beetle: Reducing Costs And Pesticides In Irish Agriculture, Bianca Araujo, Daniel P. Fitzpatrick

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Implementation Of The Nature Restoration Law In The Eu - Pros, Cons And Impossibilities, Emma Mcdonagh, Liam Sunner

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.

Ireland’S Energy Transition: Unlocking The Potential Of Offshore Renewables, Caoimhe O'Hare, Madjid Karimirad, Gautam Baruah

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.