Life Sciences 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 …

Quantification Of Mouse Tracheal Epithelial Cell Differentiation With Cilia Defects, Olivia V. Allen

Honors Thesis

Primary Ciliary Dyskinesia (PCD) is an autosomal recessive disorder that affects 1 in every 7,500 live births. PCD results from motile cilia defects, impairing mucociliary clearance and causing chronic respiratory infections. Our lab studies include three PCD mouse lines — bgh (Spef2), nm1054 (Cfap221), and Cfap54^gt/gt (Cfap54). Prior transcriptomic data led us to hypothesize that PCD mutant mouse tracheal epithelial cells (MTECs) exhibit reduced differentiation into ciliated cells. MTECs from the trachea of the Wild Type (WT) and the PCD mutant mouse lines were cultured at an Air Liquid Interface (ALI) to start …

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 …

Search, The Jackson Laboratory

Search Magazine

No abstract provided.

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 …

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)

Untangling G-Quadruplexes In Dna: The Effects Of Nucleotide Excision Repair, Jaidelin Alvardo, Abiageal Riley, Erick Morales Orrante, Raynne Malik

Posters - 2026

Nucleotide Excision Repair (NER) remo ves bulky DNA lesions that are attributed to UV irradiation, environmental mutagens, and chemo-therapeutic agents (Schärer, CSH Perspectives Biology, 2013). G4- quadruplexes are formed by four guanines hydrogen bonded together to form a planar ring, and stacking of the hydrophobic G quartets stabilizes the quadruplex structure Capra et al.,PLoS Computational Biology, 2010). A surplus of this structure is linked to genomic Instability and cancer development.

Prior studies indicate that because NER eliminates large lesions of DNA, there may be a link to the removal of G4-quadruplexes through Nucleotide Excision Repair (De Magis et al, Nature,2020). …

Exploring Base Excision Repair Using Gene Knockout, Gregory Guantos, Cailyn Brock, Kamily Visser, Dylan Vargas

Posters - 2026

•             Base Excision Repair (BER) fixes damaged 3DNA bases throughout the cell cycle by removing damaged bases and replacing either one nucleotide in short-patch BER or a short stretch of nucleotides in long-patch BER. (Hindi, 2021, Cellular and Molecular Life Sciences:CMLS)

•             4G-quadruplexes (G4s) are 4 stranded secondary DNA structures formed in guanine rich areas of DNA and RNA. (Rhodes, 2015, Nucleic Acids Research)

The URA3 plasmid was used as a PCR template to make a gene deletion construct, then yeast were transformed so APN1 was replaced by URA3. 2APN1 encodes a major DNA repair enzyme in yeast, and strains …

Epigenetic Mechanisms For Mediating The Transmission Of Prenatal Maternal Stress And Associated Neurodevelopmental Outcomes, Kaylee Vis

Senior Honors Theses

The hypothalamic-pituitary-adrenal (HPA) axis is the primary stress response system responsible for regulating cortisol release. During pregnancy, maternal stress can dysregulate the HPA axis, leading to elevated cortisol and corticosterone levels that impact fetal development. Excessive prenatal exposure to stress has been associated with alterations in fetal brain structure and function, increasing the risk for neurodevelopmental disorders such as autism spectrum disorder, attention-deficit/hyperactivity disorder, and anxiety. Emerging research supports the idea that these neurodevelopmental effects may be transmitted through epigenetic mechanisms. However, a gap remains in the literature regarding the specific mechanism of interaction between environmental stressors, heritable epigenetic information, …

Sox18 Unleashed Exploring The Transcriptomic Landscape - Differential Gene Expression Analysis Via Rna Seq In Overexpressed Sox18, Van Nguyen, Kahlie Hernandez, Monabelle Elbayeh

Posters - 2026

Cancer remains a leading cause of death worldwide, and childhood sarcomas such as Rhabdomyosarcoma (RMS) and Ewing Sarcoma (ES) are particularly aggressive with limited targeted treatment options. Despite advancements in cancer therapies, metastatic sarcomas still have a survival rate below 30%, emphasizing the need for new therapeutic targets. SOX18, a transcription factor has played a role in vascular development and endothelial differentiation, functioning as a key driver of angiogenesis. In cancer, increased SOX18 expression has been linked to dysregulated cell migration, invasion, and therapy resistance mechanisms. However, the extent to which SOX18 influences RMS and ES at the transcriptional level …

Detecting Cancer Genes Using Graph Neural Networks, Marvin Masabo Nkaka

Posters - 2026

• Cancer survival prediction is challenging due to the complexity of genomic data and limited samples especially for rarer cancer types. • To address this challenge, we developed an Artificial Neural Network (ANN) model for survival analysis using RNA-sequencing gene expression data from The Cancer Genome Atlas (TCGA). • Moreover, a key concept we investigate was how transfer learning enhanced our model’s performance especially for rarer cancer types difficult to perform accurate survival analysis due to their limited samples.

Comparing Stress Levels And Experiences Between Mothers And Fathers Of Children With Angelman Syndrome, Katherine Helen Fix

Theses and Dissertations

Angelman syndrome (AS) is a neurogenetic disorder characterized by significant developmental and cognitive impairments, disruptive behaviors, and a hallmark happy demeanor. Past studies have shown that certain features of AS contribute to increased parental stress. Other studies report that in general the stress of parents of children with disabilities is influenced by stereotypical gender roles surrounding factors including daily care taking tasks, financial responsibility, and medical care involvement. This study aimed to compare perspectives among mothers and fathers of individuals with AS to identify discrepancies and themes relating to stress, specific hardships, and caregiving roles. Parents of children with AS …

Student Insights On The Most Valuable Aspects Of Genetic Counseling Programs’ Online Presence During The Application Process, Anna Cathryn Girten

Theses and Dissertations

When applying to genetic counseling graduate programs (GCGPs), past research has demonstrated that students prefer websites that are updated and easy to navigate. Program websites contribute to students’ first impressions of the program and serve as an important source of information, but there is limited research on the role of social media and other online content during the application process. This study aimed to identify the importance of online platforms and helpfulness of specific content for students applying to GCGPs. An electronic survey was distributed to current students and recent graduates of accredited genetic counseling programs, and 148 responses were …

Assessing Hereditary Cancer Risk And Genetic Counseling Knowledge And Interest In Appalachian Kentuckians, Ashton Farmer

Theses and Dissertations

Appalachian Kentucky has the highest cancer incidence in the United States and about 5-10% of all cancer has a hereditary cause. Despite this, there are no board- certified genetic counselors located in the area, and few genomic studies have been done in this population. This study aimed to define Appalachian Kentuckians’ interest in cancer genetic counseling and knowledge of cancer risk factors. An original online survey including multiple choice, Likert scale, and open response items was utilized to assess interest in pursuing cancer genetic counseling and how knowledge of cancer causes impacts interest in cancer genetic counseling. A total of …

Exploring Genetic Causes And Perspectives Of Uninformative Snp- Based Cell-Free Dna Prenatal Screening Results, Teeya Mercer

Theses and Dissertations

Single nucleotide polymorphism (SNP)-based cell-free DNA (cfDNA) prenatal screening can yield uninformative results, including “atypical finding” and low fetal fraction results which can present challenges for clinical management. Limited data exists regarding the underlying causes, pregnancy outcomes, and patient experiences associated with these results. The purpose of this study was to explore the different potential underlying causes of these uninformative results while also exploring the pregnancy outcomes and the perspectives of patients who have received one. A mixed methods study was conducted consisting of a retrospective chart review on patients who had a documented appointment with a genetic counselor for …