Medical Genetics Commons^™

Ongoing Study Of The Association Of Apoe Gene Polymorphisms With Cognitive Impairment In The Rio Grande Valley Hispanic Population, Jaime Miguel L. Saveron, Daniela Gamez, Chun Xu

Research Symposium

Background: Alzheimer's disease (AD), a prevalent neurodegenerative disorder, exhibits a significant genetic component. In addition, mild cognitive impairment (MCI) is a key risk factor for AD. While certain demographic factors and genetic variants associated with AD and cognitive impairment have been identified in non-Hispanic populations, limited research exists on this subject within the Hispanic population, particularly in the Rio Grande Valley. This study aims to investigate the relationship between the APOE gene, specifically its ε4 allele, and cognitive impairment in the Hispanic population of the Rio Grande Valley.

Methods: A total of 269 Hispanic subjects, aged 60 and above, with …

Emerging Unconventional Therapies For Glioblastoma Multiforme, Danielle Morang

Capstone Showcase

Glioblastoma multiforme (GBM) is the most prevalent and aggressive primary malignant brain tumor occurring in adults with a median survival of less than two years. It is a highly invasive tumor characterized by genetic heterogeneity, angiogenesis, and rapid proliferation. Patients undergo a multimodal treatment regimen consisting of surgical resection and chemoradiation therapy, yet GBM tumors almost always recur with a worsening prognosis. The molecular and genetic complexities of GBM pose a significant challenge for developing effective therapeutics. Thus, it is imperative to identify new therapeutic targets and explore novel treatment strategies to improve patients’ overall survival time and quality of …

Functional Characterization Of The Ipsc Generated Hepatocytes Using Genome-Wide Transcriptomic Analysis, Ashley Ikwuezunma, Erica De Leon, Ana C. Leandro, Joanne E. Curran, John Blangero, Satish Kumar

Research Colloquium

Advances in iPSC technologies now allow us to consider non-invasive large-scale in-vitro disease modeling experiments on disease appropriate cell types in human subjects to better understand human disease pathophysiology, disease genetics and to develop better diagnostic and therapeutic technologies. We performed differential gene expression and functional annotation analysis using genome wide mRNA sequencing data to evaluate the functional and disease modeling potential of iPSC generated hepatocytes. Following the criteria moderated t statistics FDR corrected p-value ≤ 0.05 and fold change-absolute ≥ 2.0, 7,246 genes/transcripts were significantly differentially expressed iPSCs and hepatocytes. The 3,791 of these DE genes/transcripts were significantly …

Gene By Environment Interaction And Metabolic-Associated Fatty Liver Disease In Mexican American Patients With Depression, Khalid Sheikh, Vincent P. Diego, Sandra L. Laston, Eron G. Manusov, Sarah Williams-Blangero, John Blangero

Research Colloquium

Knowledge of genetic and environmental (G x E) interaction effects on metabolic-associated fatty liver disease (MAFLD) is limited. The purpose of this study was to examine the impact of G x E interaction effects on MAFLD in Mexican Americans in the Rio Grande Valley (RGV). The environment examined was depression as measured by the Beck Depression Inventory-II (BDI-II). We examined potential G x E interaction in the phenotypic expression of MAFLD, including hepatic steatosis and hepatic fibrosis, using variance component models and likelihood-based statistical inference. Significant G x E interactions were identified for hepatic fibrosis x BDI-II. These findings provide …

Variant Of Fii Gene Plays A Critical Role In Coagulation Potential In Mexican-Americans, Hoang Anh T. Nguyen, Shuchita Vijay Jhaveri, Marcio A. Almeida, Vincent P. Diego, Satish Kumar, Juan M. Peralta, Joanne E. Curran, Bernadette W. Luu, Donna M. Lehman, Ralph A. Defronzo, Laura Almasy, Sarah Williams-Blangero, Ravi Duggirala, John Blangero, Tom Howard

Research Symposium

Background: Disruption in the balance between coagulation and bleeding can result in varying phenotypes such as hypercoagulability and can lead to the development of cardiovascular disease. In our study utilizing extended families of Mexican-Americans from South Texas, we performed a search for protein-altering variants influencing coagulation potential.

Methods: Mexican-Americans in the study were genotyped using Illumina-(human)-exome-24 chip to screen for protein-altering variants. Variants were analyzed for their association with FII activity, aPTT, and PT. Linear-mixed-model analysis was performed to estimate trait heritabilities and to interrogate single nucleotide variations (SNV) for evidence of genetic association. To control for multiple testing, associations …

Dpyd Pathogenic Variants Associated With Fluoropyrimidines Toxicity, Diana Cristina Pérez-Ibave, Noé Israel Oliva-García, Irasema Ramos-Martínez, Francisco Javier Villarreal Alvarado, Valeria Jimena Gómez Ordaz, Jonatán Isaí Cortes Alfaro, Carlos Horacio Burciaga-Flores, Juan Francisco González-Guerrero, Oscar Vidal-Gutiérrez, Maria De Lourdes Garza-Rodriguez

Research Symposium

Background: Genetic variants in dihydropyrimidine dehydrogenase gene (DPYD) coding for the key enzyme (DPD) of fluoropyrimidines (FPs) catabolism. DPYD contributes to the development of severe FPs-related toxicity, and pathogenic DPYD variants detection reduces side effects and complications associated with FP-toxicity. The allelic frequency of these variants in the Mexican population is currently unknown.

Methods: The study was carried out at the Centro Universitario Contra el Cáncer (CUCC) of the Universidad Autónoma de Nuevo León (UANL) in Monterrey México. Genomic DNA was isolated from 154 subjects using the QIAamp DNA Blood Midi kit (QIAGEN) following the manufacturer's recommendations. We …

Antagonistic Pleiotropy In Alzheimer's Disease, Annie Hollis

Undergraduate Research Conference

Apolipoprotein E (APOE) ε4 allele has been linked with Alzheimer’s disease; specifically having two copies of the APOE ε4 allele greatly increases the risk of developing Alzheimer’s disease in older age. Studies have attempted to relate an antagonistic pleiotropy hypothesis to this gene, i.e., the ε4 allele has positive effects on cognition and memory in early life and negative effects later in life. Many of these studies have had several limitations and conflicting results, such as testing adults in upper middle age or comparing the absence of the ε4 allele with the presence of at least one ε4 allele. Studies …

Breast Cancer Subtyping Of The Cancer Genome Atlas (Tcga) Samples, Spencer E. Yu, Alfred B. Amendolara, Steven T. Tung, Alexander P. Sheppert, Nasif Islam, Mindy Cook, Lena Diprizito, Nicole Lashiker, Roshni Jogin, John A. Kriak, Kyle B. Bills, David W. Sant

Annual Research Symposium

No abstract provided.

Mismatch In Mice And Men, Ryan Schroeder, Hayley Ulloa, Alan Williams, Ed Grabczyk

Medical Research Day

Friedreich ataxia is a progressive degenerative neuromuscular disease that is caused by the expansion of a repetitive region of DNA, composed of three nucleotide repeats (GAA•TTC). Expansion of the DNA occurs throughout the lifespan of the patient and has been linked to the activity of specific DNA mismatch repair proteins. Disease onset occurs when the expansion increases in size beyond a certain threshold, silencing the gene and causing progressive ataxia, diabetes mellitus, and cardiomyopathy. These symptoms are linked to an increased repeat number observed within the heart, pancreas, and brain relative to other tissues within an individual. Friedreich ataxia is …

In-Depth Analysis Of Next-Generation Sequencing (Ngs) And Bioinformatics Results In Pediatric Adgrv1 Compound Heterozygotes, Sloane Clay, Adele Evans, Chindo Hicks, David Otohinoyi

Medical Research Day

Genetic diagnosis of sensorineural hearing loss (SNHL) using NGS proves challenging when encountering multigenic, multiallelic variants of uncertain significance (VUS). These VUS make it difficult to provide anticipatory guidance regarding progressive disorders such as Type II Usher syndrome (SNHL at birth and retinitis pigmentosa in the second decade of life). With genetic testing companies are identifying, reporting, and reclassifying VUS at a rapid pace; there is a need for in depth-analysis and interpretation. For example, VUS in ADGRV1, a gene implicated in Type II Usher Syndrome, may be inherited in a compound heterozygous manner and misinterpreted as benign, when in …

The Fecal Position: Tracking Progressive Dna Repeat Expansion Via Stool Dna Extraction, Margaret Conrad, Hayley Ulloa, Ed Grabczyk

Medical Research Day

Friedreich Ataxia is a progressive DNA repeat expansion disease. Examining DNA repeat expansion in mouse models require sacrificing the mouse and taking samples of organs. The obvious non-lethal targets, such as ears, tails, and blood do not have levels of repeat expansion comparable to internal organs. However, recent publications suggest that stool may be a suitable non-lethal candidate for tracking repeat expansion over time. Stool DNA may allow researchers to monitor the effect of interventions aimed at slowing DNA repeat expansion over time without harming the mouse. A commercial kit was first used to extract DNA from feces without success. …

Development Of Genetic Strategies To Treat Vision Loss In Usher Syndrome Type 1c (Ush1c), Dongjoon (Jason) Kim, Inga Kristaponyte, Bhagwat Alapure, Katelyn Robillard, Wadih Zein, Robert Koenekoop, Maria Reinoso, Jennifer J. Lentz

Medical Research Day

Background: Usher Syndrome (Usher) is the most common genetic cause of deaf-blindness, characterized by the loss of hearing, vestibular function, and vision. Three clinical types (USH1- 3) and 10 genes are associated with the disease. USH1 is the most severe with congenital severeprofound sensorineural hearing loss and vestibular areflexia, and childhood onset of retinitis pigmentosa. Mutations in the USH1C gene account for 6-15% USH1, however USH1C c.216G>A (216A) accounts for nearly all USH1 cases in the Acadian populations in U.S. and Canada. The 216A splicing mutation results in a truncated harmonin protein, and photoreceptor and cochlear hair cell dysfunction. …

Mistranslating Trnas Alter The Heat Shock Activation By Hsf1, Rebecca Dib

Undergraduate Student Research Internships Conference

Translation, or the production of protein from an mRNA blueprint, is among the most fundamental processes to life as we know it. tRNAs are essential to accurate translation, as they decode the codons of mRNA and recruit corresponding amino acids. Variant tRNAs with anticodon mutations can decrease translational fidelity by recruiting the incorrect amino acid, an aberrant process known as mistranslation. When proteins are produced with incorrect amino acid sequences, they may misfold. The heat shock response functions to alleviate cellular stress caused by misfolded proteins, either by refolding or targeting misfolded proteins for degradation. Hsf1 acts as a transcriptional …

The Heart Of The Matter: Cardiac Specific Discrepancies Between Human And Mouse Models Of Friedreich Ataxia, Katherine Copenhaver, Ed Grabczyk

Medical Research Day

Friedreich Ataxia (FRDA) is a relentlessly progressive neurodegenerative disease that manifests with multiple symptoms, which may include progressive gait and limb ataxia, loss of vibratory and position sense, progressive motor weakness, diabetes mellitus, and scoliosis. This condition also affects the heart, and hypertrophic cardiomyopathy is the cause of death in approximately 60% of patients. FRDA is a DNA repeat disorder, caused by the somatic expansion of GAA•TTC repeats within the first intron of the frataxin (FXN) gene. This leads to decreased FXN mRNA expression. The length of the repeat tract correlates with the severity of FRDA symptoms and inversely with …

Asymptomatic Covid-19 On Lsuhsc’S Campus: Antibodies, Pcr Tests, And Variants, Mallory K. Varnado, San Chu, Caroline Duncan, Ron Horswell, Lucio Miele, Judy Crabtree

Medical Research Day

Background: Rapid spreading of the highly contagious severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused a pandemic of coronavirus disease 2019 (COVID- 19) which has infected 188,128,952 people and resulted in 4,059,339 deaths worldwide (WHO COVID-19 Dashboard). Despite profound disease prevention measures and recent attempts at widespread vaccination, the virus continues to mutate and infect new people each day. Objective: The goal of this study is to analyze the data collected from the COVID-19 screening and testing program at LSUHSC-New Orleans. This includes antibody testing data, exposure and symptom questionnaires, PCR viral testing, and viral RNA sequencing data from deidentified, …

Understanding The Effect Of Adaptive Mutations On The Three-Dimensional Structure Of Rna, Justin Cook

Undergraduate Research and Scholarship Symposium

Single-nucleotide polymorphisms (SNPs) are variations in the genome where one base pair can differ between individuals.¹ SNPs occur throughout the genome and can correlate to a disease-state if they occur in a functional region of DNA.¹According to the central dogma of molecular biology, any variation in the DNA sequence will have a direct effect on the RNA sequence and will potentially alter the identity or conformation of a protein product. A single RNA molecule, due to intramolecular base pairing, can acquire a plethora of 3-D conformations that are described by its structural ensemble. One SNP, rs12477830, which …

Students As Investigators: Utilizing Active Learning To Engage Genetic Counseling Students, Stacey E. Wahl Ph.D., Dana L. Ladd Ph.D.

Transforming Libraries for Graduate Students

Providing one-shot instruction sessions can be difficult, particularly in the graduate learning environment. As librarians, we want to provide students with the skills to search effectively for health information without overwhelming or confusing them. In health science graduate programs, we are expected to connect literature searching skills with the content of the courses in a manner that is engaging to students. This challenge can be exacerbated when students are new to graduate school and have not yet become familiar with scientific literature searching or the research process. Two medical librarians sought to overcome these challenges by empowering genetic counseling students …

Exploration Of Prostate Cancer Cells: The Significance Of Active Herv, Dakota Shepherd

Student Scholar Showcase

The second most common cancer in men is prostate cancer. Prostate cancer is traditionally diagnosed by a digital rectal exam. Blood tests can also be used to test for PSA (prostate-specific antigen). These two methods can be used together but can sometimes provide both false negative and false positive results. A new method of testing for prostate cancer could prove to be beneficial. Previous studies have shown that active HERV sequences have been identified in some cancers, including prostate cancer. We hypothesize that the presence of active HERV in prostate cancer lines is significant. In this study, rabbit polyclonal antibodies …

Updates On Epigenetic Alterations To Brca1: Chemosensitivities, Haley Blum

UNO Student Research and Creative Activity Fair

Breast cancer 1, early onset (BRCA1) is a human tumor suppressor gene encoding the BRCA1 protein that maintains genomic integrity. Molecular events may contribute to the loss of BRCA1 function, contributing to site specific tumorigenesis. Loss of BRCA1 function may arise from mutation or epigenetic events. Germline mutations of BRCA1 have been thoroughly implicated in heritable breast and ovarian cancers. More recently, sporadic breast cancer has been shown to be driven by epigenetic alterations to the BRCA1 promoter region, specifically methylation. Breast carcinomas that present with BRCA1 promoter methylation have been associated with triple negative breast cancers, as well …

A Humanized Hypertrophic Cardiomyopathy Model To Elucidate Molecular Mechanism In Disease Pathology, Ragavi Vijayakumar, Maxine Hong

The International Student Science Fair 2018

Hypertrophic cardiomyopathy (HCM), that clinically manifests as an enlarged heart is a highly prevalent cardiac disorder with propensity towards arrhythmia-induced sudden cardiac death. The mechanism of HCM remains poorly defined, necessitating further understanding of the disease for improved therapeutic strategies. As it is challenging to obtain cardiac biopsies from human subjects, using induced pluripotent stem cells technology, we generated cardiomyocytes (CMs) in a dish from HCM patients. These HCM-CMs presented the clinical manifestation in that they were significantly larger in size in comparison to control (healthy)-CMs. Furthermore, gene expression profiling of cardiac ion channels revealed increased transcripts encoding for calcium …

Genes Associated With Mandibular Prognathism In The Chinese Population, Jacqueline Payne, Marie Tolarova M.D., Ph.D., D.Sc.

Excellence Day

Mandibular prognathism (MP) is the relationship of the mandible anteriorly positioned in relation to the cranial base. The prevalence of MP in Asians is estimated to be 15%, whereas American and European descent exhibit a 5% prevalence. Orthodontic treatment is lengthy and challenging, and severe cases require surgical intervention. However, when a treatment is planned well, the outcomes are predominantly successful. It has been known that genetics are involved in the etiology of prognathism and that greater genetic contribution corresponds to greater challenges to treatment. Thus, there is a desire to determine genes involved in the etiology of prognathism.

The Emerging Genetics Workforce: A Study Of Physician Geneticists' Professional Lives, Heather Gosnell

Posters-at-the-Capitol

PURPOSE: The purpose of this study is to explore the current practice and geographic location trends of physicians certified in clinical genetics, clinical biochemical genetics, and medical biochemical genetics during the 2011, 2013, and 2015 certification cycles.

METHODS: Physicians’ personal data was collected from public internet domains including the American Board of Medical Genetics and Genomics (ABMGG) provider database, the CMS National Plan and Provider Enumeration System, publically available professional-biographies, and university affiliations. The search results were cross-referenced for the greatest accuracy. Geographic location data was plotted onto maps.

RESULTS: Approximately 27% (n=69) physicians board-certified in genetics are currently practicing …