Genetics and Genomics Commons^™

Identification Of Lipid Quantitative Trait Loci Linked With Cardiometabolic Disease In Asian Indians And Europeans: A Genome-Wide Association Study And Mendelian Randomization, Madhusmita Rout, Christopher E. Aston, Ravindranath Duggirala, Harald H. H. Goring, Oliver Fiehn, Dharambir K. Sanghera

School of Medicine Publications

Background: Genetic mechanisms that predispose people to type 2 diabetes (T2D) and cardiovascular disease (CVD) remain poorly understood, partly because of a lack of sufficient data on non-European ethnic groups. Extending these evaluations to diverse cohorts is essential for gaining insights into the molecular pathways involved in disease development among human populations. In this study, we aimed to evaluate the genetic connection between the human lipidome and cardiometabolic disorders. We conducted a metabolite genome-wide association study (mGWAS) in a Punjabi population from India, along with multi-layer replication studies using the UK Biobank and other independent European and non-European cohorts.

Methods …

Biomechanical Effects Of Bilateral Torsion And Skeletal Fusion: A Case Study, Linnéa Forbes

Honors Projects

As part of both a personal endeavor and an academic project, I have investigated the aetiology and treatment of seemingly idiopathic and debilitating leg pain in a patient over the past 10 years. Via collaboration with medical professionals at Cincinnati Children’s Hospital, Cincinnati Premier Physical Therapy, and Cincinnati Women’s TriHealth, I have identified sources of pain at the anatomical level. The combination of internal femoral torsion, external tibial torsion, pes planus, and bony fusions appear to be major perpetuators of the pain. An effective treatment continues to be evasive. To date, I have attempted to find answers through genetic approaches, …

Optimizing Itpa R178c Assays Via Hplc, Jared J. Reisnouer, Wally D. Pines

2026 Symposium

Two of the major nucleotide bases in DNA and RNA (Adenine and Guanine) are derived from the purine Inosine Monophosphate (IMP). IMP may occasionally form the noncanonical nucleotide Inosine Triphosphate (ITP) within the cell and become incorporated into DNA during replication, leading to potentially lethal errors. To combat this, human cells produce the “housekeeping” enzyme Inosine Triphosphatase (ITPA) to revert ITP to IMP. A mutation of this protein that replaces the 178th amino acid Arginine with Cysteine (R178C) is associated with a fatal infantile encephalopathy. Previous assessments of enzyme-substrate binding and catalysis for ITPA variants have been run at a …

Amyloid Beta-42 Neurotoxicity In Drosophila Retinal Development, Shay O. Sims, Pierce Duncan, Malachi Abon, Jacob G. Smith

Create@State

Alzheimer's disease (AD) represents one of the most prevalent neurodegenerative disorders globally. Thus far, the underlying mechanisms associated with the pathogenesis of AD are innately elusive. Two hallmarks associated with the progression of AD exist, including Amyloid-Beta 42 (Aβ42) protein plaque formation and hyperphosphorylation of tau proteins in neurons. Amyloid-beta is known to concentrate with other neuronal proteins as complexes form, including the cytoskeletal protein actin. However, whether actin contributes to neuronal decline in AD is unknown. To further understand the cellular cascades associated with AD, we investigated the role of cytoskeleton dynamics in modulating oxidative stress and neuroinflammation within …

Transgenic Plant Cells For The Cost-Effective Production Of Pharmaceutical Proteins, Maria Gambaro

Create@State

Plant-based systems are becoming an important method for producing pharmaceutical proteins because they can be more cost-effective, and safer compared to traditional production methods which commonly use mammalian cells. This project aims to develop a transgenic plant cell system that can produce a pharmaceutical protein using molecular cloning techniques. A transgenic plant cell has the DNA of another plant integrated into its genome, altering its gene expression to produce different proteins. To begin, a plasmid carrying the gene of interest and the DNA components needed for expression will be designed. The plasmid will then be used to introduce the gene …

Variation In Infection Prevalence Of Splendidofilaria Pectoralis Across Alaskan Grouse Populations, Anahi Garcia Valdez, Diego Martinez

Create@State

In recent years, rapid climate change has altered species distributions worldwide and influenced parasite transmission dynamics in wildlife systems. Parasite infections play an important role in shaping patterns of disease distribution across species and populations. Understanding variation in infection prevalence across geographic regions and host demographic groups is essential for interpreting these patterns. Splendidofilaria pectoralis is a filarial nematode that infects the connective tissues of grouse (Aves: Tetraonini) in Alaska and has been moving northward as the climate warms. However, relatively little is known about the variation in prevalence of the nematode across geography and demography. This project examines variation …

The Genetics Of Sex, Fortis Brown

The Agora

Sex is a complex biological process that begins in the womb and lasts into puberty and beyond. It is often presented to society as a binary, chromosome-based system where XX means female and XY means male. In reality, chromosomes are just the beginning of a lifelong process involving hormones that influence biological changes. This process becomes apparent with its errors, known as Differences in Sexual Development (DSDs). DSDs can be caused in two main ways: through changes in either meiosis or in gene expression. While many consider these changes as ‘errors’, the processes that cause them to have been intentionally …

A Computational Assessment Of Halobacterium Salinarum Glutamate Dehydrogenase Enzymes, Maaz Abdalla

Thesis/ Dissertation Defenses

Glutamate dehydrogenase (GDH) is a hexameric enzyme. GDH is involved in several pathways and cellular processes such as oxidation-reduction homeostasis, ammonia metabolism, lipid biosynthesis, insulin and lactate production, and acid-base equilibrium. The main objective of this thesis is to understand the structural and biochemical properties of this enzyme and why some organisms, for e.g., Halobacterium salinarum, have more than one GDH with different coenzyme specificities. The catabolism of glutamate is linked to NAD+-specific GDHs, meanwhile, NADP+-specific GDHs play an anabolic role in ammonia assimilation. Molecular docking and binding free energy calculations were employed followed by long-scale (500 nanoseconds) comparative molecular …

Impact Of One Nucleotide On Organ Enumeration And Phyllotaxy In Arabidopsis Thaliana, Hazel R. Frans, Tara Phelps-Durr

SACAD: Scholarly Activities

Arabidopsis thaliana is a model organism used by scientists to study plant genetics, development, and physiology. CRISPR-Cas9 is a biotechnology tool adapted from a bacterial defense mechanism to precisely edit DNA using a guide mRNA and a Cas9 protein. This project aims to create CRISPR-CAS9 mutations in the APETALA3 (AP3) gene of the model plant Arabidopsis thaliana. AP3 is a class B gene critical to the petal and stamen development of Arabidopsis flowers. The AP3 protein contains a MADS domain, which binds directly to DNA and may be responsible for the expression of the CaRG-box genes. AP3 works in conjunction …

Ultrasonography Accompanied By Genetic Testing In Feline Polycystic Kidney Disease, Thao Phuong Vu, Thong Quang Le, Ha Nguyen Nhat Tran, Khoa Hoang Dang Le, Anh Phu Nam Bui

The Thai Journal of Veterinary Medicine

Autosomal dominant polycystic kidney disease (ADPKD), caused by the PKD1 c.10063C>A mutation, is a prevalent inherited feline disorder, but its allele frequency in Vietnam remains unidentified. This study aimed to determine the carrier frequency of this variant in British Shorthair, Maine Coon, and Ragdoll cats in Ho Chi Minh City and to correlate genotype with ultrasonographic phenotype. Ninety-seven client-owned cats were genotyped for the pkd1 mutation using PCR-RFLP. A subset of 47 cats also underwent abdominal ultrasonography to detect renal cysts. Genotypic results were correlated with sonographic findings, and risk factors were analyzed using chi-square tests and odds ratios …

Unpacking Developmental Programming: A Conceptual And Historical Analysis In The Context Of Dohad, Andrea Gretchev, Heide S. Temples, Gillian England-Mason, Deborah Dewey, Sara M. Sarasua, Christopher Farrell, Vivian Haley-Zitlin

Publications

The Developmental Origins of Health and Disease (DOHaD) paradigm posits that early environmental factors may influence a child’s development and long-term health outcomes. Developmental programming (DP) is central to this paradigm, whereby specific early life exposures during critical periods of development are associated with changes to physiological and metabolic pathways, potentially predisposing individuals to disease. However, no standard definition of DP exists, and various terms have been used to describe similar processes. This analysis aimed to develop a conceptual definition for DP to inform interdisciplinary research, education, and practice. Walker and Avant’s eight-step method was employed to analyze the literature, …

Comparing Gngt1 Expression In Eye Tissue Of Polymorphic Salamander Species Through Development, Fiona Coulbourne, Camila Cardozo, Macarena Machado, Ruben Tovar

Posters - 2026

The effect of the environment on organisms and their adaptations is widely studied. When exposed to different environmental niches, phenotypic adaptation is observed even within species. Animals that live in dark cave environments show a loss of their eyesight, since this sense is no longer useful to keep. Previous research has studied salamanders of the clade Eurycea and compared gene expression to subterranean and surface phenotypes1. E.pterophila is observed to express these two phenotypes depending on its environment, either Preserve Cave (subterranean) or Comal Springs (surface). Subterranean variant shows reduced eye volume and assumes to have decreased eyesight. Utilizing RNASeq …

Investigating The Endogenous & Synthetic Estrogens To The Three Estrogen Receptor Subtypes Of Teleost Fish, Ann Cyril

Posters - 2026

Estrogen and the estrogen receptors are important biological and physiological processes. The various types of estrogen include estrone, estradiol and estriol. Estradiol’s main function is to maintain the reproductive system. Estrone’s main function is to develop the female's reproductive functions. Estriol’s main function is to aid the female's sexual developments but is on the weaker side. The fish, Atlantic Croaker, has three different estrogen receptors: ERα, ERβa, and ERβb. Based on the estrogen receptors, it appears that their binding affinities do differ in strength. Each estrogen receptor has different amino acids involved that could contribute to the difference in their …

Investigating Rad14 Gene Nucleotide Excision Repair On G-Quadruplexes, Juan Pablo Olvera Rodriguez, Tyna Trevino, Yvette Gonzalez, Georgia Romike

Posters - 2026

DNA is typically found as a double-stranded helical structure; however, it can be found in different types of structures, such as G-quadruplexes (G4s). These are structures formed when DNA sequences are rich in Guanines, which interact with each other by hydrogen bonding, forming stacked G-tetrads. These guanine-rich structures are known for interacting with DNA during important cell processes, such as recombination and replication, leading to instability and DNA damage (Grey et al., 2014). If not treated properly, these structures may contribute to mutations and cancer development. To solve these issues, cells have developed maintenance pathways such as Nucleotide Excision Repair …

Assessing Differential Expression In Skin Of Surface Versus Subterranean Salamanders (Eurycea) Through Development, Chiara Angelyn Maldonado, Van Nguyen, Amy Torres

Posters - 2026

In salamanders, previous findings have shown that subterranean environments impose different selection pressures on sensory systems than surface environments do (1). Differences in ocular development between phenotypes is part of ongoing research to better understand the evolutionary and molecular underpinnings. Studies have shown that parallel ocular development occurred in subterranean and surface phenotypes, while pax6 expression decreased in latter stages of development of subterranean species (2). These insights of gene labeling and expression as well as reduction of ocular structures in latter stages of development provide a stage for understanding evolutionary processes and genetic mechanisms as well as having potential …

Nucleotide Excision Repair In Yeast, Kinleigh Mines, Larry Ramirez, Jacob Rodriguez, Delynda Gonzalez

Posters - 2026

DNA damage occurs constantly in cells due to environmental factors and normal cellular processes, making DNA repair pathways essential for maintaining genomic stability (Hindi et al., 2021). One major repair mechanism is Nucleotide Excision Repair (NER), which is responsible for recognizing and removing bulky DNA lesions that distort the double helix structure (Scharer, 2013). In Saccharomyces cerevisiae (yeast), the RAD14 gene plays a critical role in this pathway by helping identify and initiate repair of damaged DNA (Scharer, 2013). Another source of instability comes from the formation of G-quadruplex (G4) structures, which are secondary DNA configurations that can interfere with …

G-Quadruplex Dna-Driven Genomic Instability Under Ber Loss, Addison Belick, Claryssa Gutierrez, Joslynn Rosas, Andrea Vargas

Posters - 2026

Base Excision Repair (BER) is a cellular tool that can repair damaged DNA (Hindi et al., 2022, Cellular and Molecular Life Sciences). G-quadruplexes (G4s) are unique 4-stranded structures in DNA or RNA that are rich in guanine (Gray et al., 2023, Nat. Chem. Biol). The purpose of this study is to understand whether BER contributes to the removal of G4s in DNA. This will determine if the BER-deficient yeast is more sensitive to treatment with G4-binding drugs than the BER-proficient yeast. We will replace the APN1 gene in the yeast genome with the URA3 gene, because the wild type yeast …

Fisheries Management Paper No.312: Discussion Paper On Management And Licensing Options For The Charter Industry - Statewide Strategic Review Of Western Australia’S Charter Fishing Sector, Department Of Primary Industries And Regional Development, Western Australia

Fisheries Management Papers

This consultation paper has been prepared to support the statewide strategic review of Western Australia’s (WA) charter fishing sector, which was initiated as a government commitment.

The paper details issues and proposals relating to the management and licensing framework, development opportunities and representation model for the charter fishing industry. The proposals have been developed in consultation with the Charter Review Working Group. The Department of Primary Industries and Regional Development (DPIRD) now seeks comment from relevant stakeholders on the issues and proposals outlined within this paper.

Comments provided will assist in providing advice and recommendations to the Minister for Fisheries …

Dissecting The Etiology Of Alcohol Use Disorder By An Integrative Heritable Component Approach, Ivy Garrenton

Computer Science Theses & Dissertations

Alcohol Use Disorder (AUD) is a pervasive condition characterized by complex interplay among genetic, phenotypic, and environmental factors. Although previous studies have identi fied genetic loci associated with alcohol consumption, these efforts have not captured the genetic heterogeneity and gene-environment interactions underlying AUD pathogenesis. To address this critical gap, we developed a novel statistical methodology that integrates phenotypic, genotypic, and environmental data through an environmentally modified Genetic Relationship Matrix (GRM) to derive AUD-related traits with enhanced heritability.

This approach demonstrated superior performance in both simulated and real-world datasets. Traits derived using the environmentally modified GRM exhibited significantly higher estimated heritability …

Analysis Of Mitochondrial Dna Haplotype Groups For South Texas Canids, Canis Rufus, After Past Hybridization Events, Isabella Lopez

Presentations - 2026

mtDNA: mitochondrial DNA; passed from maternal parent to offspring (Haplotype)

Haplotype:  a group of genes or genetic markers inherited together from a single parent (Haplotype)

Mitochondrial DNA haplotypes specific sequences of mtDNA that is passed exclusively from maternal parent to offspring (Giles et al. 1980)

Pro's:

It is passed unchanged from mother to offspring, meaning it is fairly stable (Giles et al. 1980)

Each cell has multiple mitochondria vs one nucleus , which means mtDNA it is more likely to be recoverable from degraded samples like scat (Templeton et al. 2013)