Genetics and Genomics Commons^™

Assessing Parental Satisfaction Of Current Fragile X Syndrome Resources Provided At Diagnosis, Megan Michalski

Theses and Dissertations

Diagnosis of a child with fragile X syndrome (FXS) is associated with parental anxiety. Existing literature recommends FXS resources, but there has not been a formal assessment of when parents learn about these resources, or their satisfaction with them. Studies have demonstrated negative feelings surrounding the diagnostic experience of FXS. This exploratory analysis assessed the gap in knowledge on parental satisfaction of the recommended resources from healthcare providers during the time of diagnosis. We predicted parents would not be satisfied with the way resources were presented to them. We discussed parental satisfaction or dissatisfaction, utility of the recommended resources, and …

Examining Parental Disclosure To Unaffected Siblings Of Children Diagnosed With Rett Syndrome, Rachel Nicely

Theses and Dissertations

Rett syndrome is a neurodevelopmental disorder that is inherited in an X-linked dominant manner due to pathogenic variants in the MECP2 gene that are almost always de novo. It is one of the most common causes of developmental delay and intellectual disability in females and occurs in about 1 in 10,000 females. While there is valuable literature surrounding the impact of a neurodevelopmental diagnosis on unaffected siblings, there are no articles about the impact of a disclosure of Rett syndrome to unaffected siblings and the needs of parents during this disclosure. This study aimed to examine the disclosure process …

Sexual Health Education For Children With Neurodevelopmental Disorders: Genetic Counselor And Pediatrician Perspectives, Mary Catherine Smith

Theses and Dissertations

Many barriers prevent individuals with disabilities from receiving appropriate sexual health education (SHE), including deficits in socialcommunication skills and lack of resources and trained educators. There are few guidelines specifically addressing how to accommodate for providing SHE to individuals with disabilities. Healthcare professionals who are trained in working with adolescents with disabilities, such as pediatric genetic counselors, developmental-behavioral pediatricians (DBP), and neurodevelopmental disabilities (NDD) subspecialty pediatricians, could fill this gap. The purpose of the current study was to assess what informational items pediatric genetic counselors, DBP, and NDD subspecialty pediatricians felt were most essential to include in SHE for children …

Infertility Education For Men With Cystic Fibrosis And Its Effects: Outlooks On Fertility And Birth Control, Allison Elizabeth Perez Szczepanski

Theses and Dissertations

Many men with Cystic Fibrosis (CF) are infertile; however, few studies have evaluated fertility outlook of men with CF since the advent of modulator therapy. As predicted survival and quality of life improve, family planning is an area of increased interest for the CF community. The current study surveyed men with CF to explore their outlook on fertility, family planning, and birth control use with the option to receive a home fertility test and follow-up interview with study staff.

Seventy-five men with CF completed the survey and 53 (71%) believed they were likely infertile. Most recalled learning about infertility between …

The Utilization Of Healthcare Chaplains By Genetic Counselors, Elizabeth G. Hollingsworth

Theses and Dissertations

Healthcare chaplains prioritize the spiritual and religious care a patient and their family may need during their healthcare experience. This study investigated the current utilization of healthcare chaplains by genetic counselors, as well as the ability, in time and skill, of the healthcare chaplains to see genetic counseling patients. Lastly, the study investigated if genetic counseling patients would accept a referral to meet with a healthcare chaplain. We hypothesized that genetic counselors are not utilizing healthcare chaplains, healthcare chaplains have the ability to see genetic counseling patients, and genetic counseling patients would consider meeting with a healthcare chaplain.

This study …

Describing The Experiences Of Canadian Genetic Counseling Students Studying In The United States, Madeline Emma Ladouceur

Theses and Dissertations

There are fewer and smaller genetic counseling master’s programs in Canada compared to the United States, which makes it challenging for prospective Canadian students to train in their home country. We investigated which factors influenced Canadian students to apply or not to apply to American genetic counseling training programs, as well as the experiences of those Canadians who attended a program in the United States. We predicted that Canadian students applied to American genetic counseling training programs primarily because of limited training opportunities in Canada and a competitive application process across North America. We used a mixed method, online survey …

Knockdown Of Mdm2 In Hepg2 Cell Line: A Step Towards Understanding The Relation Between Mirna590-3p And Its Downstream Target Gene, Mdm2, In Hepatocellular Carcinoma, Jihad Mahmoud

Theses and Dissertations

Background: miRNA 590-3p is a small non-coding RNA that has previously been associated with the occurrence and progression of several cancer types. Its expression pattern and biological role in Hepatocellular carcinoma (HCC), however, remain controversial. Interestingly, a previous study in our lab revealed a tumor suppressing activity of miR-590-3p in HCC and identified the MDM2 gene as the miR-590-3p target gene.

Aim: The current study aimed to knock down the expression of MDM2 in HepG2 cells to understand how the inhibition of MDM2, as a validated downstream target of miR-590-3p, would affect different functional pathways in HCC. In …

Design Of A Synthetic Temperature-Activated Epigenetic Biocontainment System, Owen Rivers Page

Theses and Dissertations

The need for an internal control to govern engineered strain survival is becoming apparent when considering the biosafety and ethics within biotechnological research. Using understudied regulatory elements known as RNA thermometers (RNATs) that can modulate protein translation based on temperature changes and a Type II restriction modification system, we posit the creation of a synthetic temperature-activated epigenetic biocontainment system, termed the ‘sentinel switch’. We have mined a wide variety of bacteria from Yersinia pestis to Synechocystis sp. looking for novel RNATs. A complementary synthetic biology approach based on library generation and screening of chimeric RNATs (ChRNATs) was also conducted. RNATs …

Alternatively Spliced Csf3r In Human Health And Disease, Borwyn A. Wang

Theses and Dissertations

Elevated alternative colony stimulating factor 3 receptor (CSF3R) isoforms are observed in myelodysplastic syndromes (MDS) and other myeloid neoplasms, but their role in driving disease progression has not been fully explained. In this study we report on the role of an MDS-associated splicing factor SRSF2 and its effects on the production of Class III and Class IV CSF3R isoforms and granulopoiesis. Class IV add-back in Csf3r-null mice showed impaired neutrophil differentiation with increased number of CFU-G, which largely consisted of metamyelocytes, while Class III showed greater dysgranulopoiesis accompanied by dysmorphic neutrophils. Alternative CSF3R isoforms were elevated in …

Evaluating Population Genetic Structure And Potential Genomic Signals Of Natural Selection In A Migratory Songbird (Protonotaria Citrea), Tyler A. Hohenstein

Theses and Dissertations

In this study I attempted to further resolve the population genetic structure in the Prothonotary Warbler (Protonotaria citrea), and conducted an outlier SNP analysis and exploratory gene ontology analysis to investigate potential ongoing natural selection in the species. This analysis of population structure confirms previous work by DeSaix et al. (2019), where weak population structure was observed between eastern sites along the Atlantic Coastal Plain, and western sites in the Mississippi Alluvial Valley, possibly due to a genetic discontinuity across the Appalachian Mountains. I conducted two forms of outlier SNP analyses, a principal component analysis (PCA)-based approach to identify SNPs …

Development Of Novel, Miniaturized Sperm Cell Isolation Techniques For Sexual Assault Samples, Brittany Celeste Hudson

Theses and Dissertations

The ever-increasing sexual assault evidence collection kit backlog within the United States has prompted the search (and desperate need) for a more efficient, cost-effective, and rapid processing technique that can separate male and female contributions from evidentiary samples. Although backlogs have largely been tackled across the United States and many technological advancements have made the forensic DNA analysis workflow quicker, techniques for handling sexual assault samples remain time-consuming, tedious, and inefficient at separating cellular fractions from the victim and perpetrator. Thus, this research sought to identify a reproducible sperm isolation method using antibodies and/or alternative differential cell lysis techniques as …

Quantifying Contributions Of Climate, Geography, And Gene Flow To Divergence: A Case Study For Three North American Pines, Constance E. Bolte

Theses and Dissertations

Long-lived species of trees, especially conifers, often display weak patterns of reproductive isolation, but clear patterns of local adaptation and phenotypic divergence. Discovering the evolutionary history of these patterns is paramount to a generalized understanding of speciation and the processes that confer population persistence versus those that compromise adaptive potential under rapidly changing environments. Forest trees have long generation times and low migratory potential making them especially vulnerable to population fragmentation and reductions of genetic diversity due to insufficient tracking of niche optima and adaptational lags. Within clades of the genus Pinus, evolutionary histories appear to be riddled with hybridization …

Identifying The Human Homologs Of Yeast Rab Proteins Ypt10 & Ypt11 And A Global-Scale Louse Endosymbiont Genome Variation, Nathaniel P. Smith

Theses and Dissertations

Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease that causes loss of upper and/or lower motor neurons, and currently has no treatment or cure available. Over 90% of cases occur spontaneously with unknown causes, highlighting the complexity of the disease, and only 10% of cases are linked to heritable genetic mutations. Numerous ALS-linked genes are conserved through evolution, and model organisms may therefore provide opportunities to understand disease pathology at a molecular or cellular level, proving instrumental in identifying therapeutic targets. ALS subtype 8 (ALS8) is caused by an autosomal dominant P56S mutation in the VAPB gene that …

Examination Of Common And Rare Variant Genetic Architecture Of Psychiatric Disorders, Mohammad Ahangari

Theses and Dissertations

Psychiatric disorders are often heterogenous in their manifestation and genome-wide association studies have identified many common risk variants involved in their polygenic architectures with varying degrees of pleiotropy. In recent years, large-scale biobanks have also begun sequencing the genome of their participants to elucidate the role of rare risk variation in the genetic architecture of complex phenotypes, including psychiatric traits. This dissertation sought to better understand the role of both common and rare risk variation in the genetic architecture of psychiatric disorders with a particular focus on schizophrenia and alcohol problems. In the first three analyses, we focused on characterizing …

Relationship Of Winter Hair Coat Shedding Ability Of Purebred Angus Dams With Mineral Status, Apparent Forage Digestibility, Uterine Artery Hemodynamics, And Calf Growth And Development, Randy Hunter Burnett

Theses and Dissertations

Winter hair coat shedding ability in southern U.S. cattle production has previously been associated with differences in adjusted birth and weaning weights of calves from dams that shed by June or later (Gray et al., 2011; Cauble et al., 2019). This study was developed to research possible avenues of why these relationships exist with winter hair coat shedding ability. The primary objectives of the following experiments were to: 1) evaluate how mineral status relates to winter hair coat shedding ability, 2) evaluate how winter hair coat shedding ability relates to apparent digestibility of forage, 3) evaluate winter hair coat shedding …

Insights Into Halophilic Microbial Adaptation: Analysis Of Integrons And Associated Genomic Structures And Characterization Of A Nitrilase In Hypersaline Environments, Sarah Sonbol

Theses and Dissertations

Hypersaline environments are extreme habitats that can be exploited as biotechnological resources. Here, we characterized a nitrilase (NitraS-ATII) isolated from Atlantis II Deep brine pool. It showed higher thermal stability and heavy metal tolerance compared to a closely related nitrilase.

We also studied integrons in halophiles and hypersaline environments. Integrons are genetic platforms in which an integron integrase (IntI) mediates the excision and integration of gene cassettes at specific recombination sites. In order to search for integrons in halophiles and hypersaline metagenomes, we used a PCR-based approach, in addition to different bioinformatics tools, mainly IntegronFinder.

We found that integrons and …

Efficacy Of Telegenetics: A Diagnostic Yield Comparison Between In-Person And Telemedicine Pediatric Genetic Evaluations, Allie Merrihew

Theses and Dissertations

The purpose of this study was to investigate the efficacy of telegenetic services for pediatric genetic evaluations conducted by telemedicine by comparing it to in-person pediatric genetic evaluations. Research into the utility of telegenetics would greatly serve to identify if this is a preferred alternative service delivery model to bridge the gap in accessibility and reach a greater catchment area of the population, especially to those living in underserved and rural locations. This study was a retrospective review of electronic medical records of pediatric patients seen at Greenwood Genetic Center (GGC) for initial in-person genetic visits prior to the COVID-19 …

Developmental Regression Analysis And Investigation Of Genotype Correlations In Individuals With Classic Rett Syndrome, Aubrey Lynn Rose

Theses and Dissertations

Rett syndrome (RTT) is a neurodevelopmental disorder impacting 1 in 10,000 females worldwide, making it one of the most common causes of complex disability in girls. RTT is caused by pathogenic variants in the MECP2 gene and is characterized by developmental regression, stereotypical hand movements, and an abnormal gait. Despite consistency in the presence of these core features, a wide range of features and varying severity can be observed in girls with RTT. Similarly, the particular type of MECP2 variant present also differs between patients. Previous studies have assessed correlations between genotype and phenotype in patients with RTT. While past …

Assessing The Anticipated Needs Of Transgender Patients In Cancer Genetic Counseling, Jacqueline Baquet

Theses and Dissertations

Most cancers are sporadic, but 5-10% of all cancer is hereditary, or caused by a heritable genetic mutation. A patient’s medical history, family history, genetic test results, intact organs (e.g., ovaries) at an increased risk for developing cancer, and the availability and accessibility of interventions are used to make recommendations for cancer-risk management. In addition to basic medical care, transgender patients have healthcare needs that differ from those of cisgender patients such as expert care related to using hormones or having gender-affirming surgery, as well as unique mental health concerns. Transgender individuals may also experience a greater number of barriers …

An Exploration Of The Genetic Counselor’S Role In The Individualized Education Program, Naomi Jean Barker

Theses and Dissertations

Purpose: This exploratory study aimed to assess the knowledge of school psychologists and special education teachers regarding genetic conditions and the resources used in the development of individualized education programs (IEP) for students with genetic disorders. While the IEP process has been described for children with disabilities, literature explicitly focusing on children with genetic conditions is lacking. The rarity of genetic conditions often leaves school personnel with limited information. Methods: School psychologists (N=29) and special education teachers (N =14) throughout the United States participated in an online questionnaire. School psychologists were recruited from research committee listservs of state associations, and …

Previvor And High-Risk Breast Cancer Patients’ Opinions On A Specialized Management Clinic, Madeleine Nicole Tjoelker

Theses and Dissertations

Approximately 5-10% of cancers are thought to be hereditary, caused by pathogenic variants in genes associated with inherited cancer syndromes. Previvors, individuals who have a higher predisposition to cancer due to genetic or other risk factors, have specific healthcare and psychological needs that may be better served by a specialized management clinic. This study compared the experiences of previvors who had access to a specialized management clinic with those who did not, in order to better understand the unique needs of previvors. This study utilized a mixed methods design including an online survey (N=26) and semi-structured phone interview …

Exploration Of Patient Communication Preference Regarding Reclassified Genetic Test Results, Cooper Nicole Hall

Theses and Dissertations

Genetic testing is becoming increasingly used to detect individuals who are predisposed to developing cancer. If genetic testing identifies a variant in an individual’s DNA, the testing laboratory uses available data to classify the variant as either disease-causing or benign. When limited data is available regarding a variant’s pathogenicity and the risk of cancer for an individual is not clear, the variant is classified as a “variant of uncertain significance” (VUS). If new data is discovered, the VUS may be reclassified. There is a gap in current literature regarding desired communication for a reclassified genetic test result. There are no …

Reducing Seed Coat Fiber Content And Pod Shatter, And Engineering Medium Chain Fatty Acids-Containing Oil, In The Oilseed Crop Pennycress ( Thlaspi Arvense L. ), Maliheh Esfahanian

Theses and Dissertations

The overall goal of this thesis was to genetically improve agronomic traits of pennycress (Thlaspi arvense L.; Field Pennycress) and demonstrate the production of value-added designer seed oils to domesticate pennycress and enable its establishment as a new winter annual oilseed/meal/cover crop to be grown in temperate regions of the world. In the U.S. Midwest, pennycress can be double cropped on existing farmland during the time between corn harvest and subsequent planting of soybeans the following spring. Pennycress has the potential to produce 2,000 lbs/acre seeds, which at 33% by weight oil content and 20% protein, would yield 85 gallons/acre …

Deep Learning For Multi-Tissue Cancer Classification Of Gene Expressions, Tarek Khorshed

Theses and Dissertations

We contribute in saving the lives of cancer patients through early detection and diagnosis, since one of the major challenges in cancer treatment is that patients are diagnosed at very late stages when appropriate medical interventions become less effective and full curative treatment is no longer achievable. Cancer classification using gene expressions is extremely challenging given the complexity and high dimensionality of the data. Current classification methods typically rely on samples collected from a single tissue type and perform a prerequisite of gene feature selection to avoid processing the full set of genes. These methods fall short in taking advantage …

Evolution And Clinical Relevance Of Vaginal Bifidobacterium Breve In The Vaginal Environment, Nicole R. Jimenez

Theses and Dissertations

The vaginal microbiome is important in reproductive health and disease and is often dominated by lactobacilli. However, there are many other community state types dominated by single species that are still not well characterized. Bifidobacterium species such as Bifidobacterium breve and Bifidobacterium longum have been observed to dominate vaginal profiles. Bifidobacteria are important in infant gut development, but little is known about their role in vaginal health. Thus, we sought to use a multisystem approach to better characterize Bifidobacterium species present in the vaginal microbiome with an emphasis on B. breve. Eight strains of B. breve were isolated from vaginal …

Identifying Genes Downstream Of Mef2 That Influence Ethanol Sedation In Drosophila Melanogaster, Ananya Talikoti

Theses and Dissertations

Alcohol use disorder is a global public health issue that affects millions across the world. It can result in negative physical and mental health outcomes, and currently treatment options are limited and rates of relapse are high. Identifying genes that affect aspects of ethanol behaviors in model organisms, such as Drosophila melanogaster, can serve to eventually develop more robust therapeutic interventions for those experiencing alcohol dependence. Previous studies have identified a relationship between a person's initial sensitivity to alcohol and their abuse potential for the drug in later life. Therefore, we can study sedation behaviors in Drosophila melanogaster to …

A Spatiotemporal Assessment Of Fish Assemblage Response To Land-Use Change And The Evaluation Of Edna Metabarcoding For Describing Diverse Fish Communities, Timothy M. Owen

Theses and Dissertations

Fish assemblages are often assessed as a biological proxy for environmental health. While humans value healthy environments for the ecosystem services and recreational opportunities they provide, it is increasingly evident that such resources can be paradoxically degraded by anthropogenic activities. In this investigation, we studied the relationship between different intensities of anthropogenic land-use change and habitat-driven fish assemblage response across multiple spatiotemporal scales. Secondarily, we explored the efficacy of eDNA metabarcoding against conventional electrofishing techniques for the purpose of describing complete fish communities. This study was conducted in the Tuckahoe Creek basin near Richmond, Virginia. This James River tributary serves …

Development And Evaluation Of A Combinatorial Rt-Qpcr Multiplex For Forensic Body Fluid Identification, Carolyn A. Lewis

Theses and Dissertations

Body fluid identification is essential in the forensic biology workflow that assists DNA analysts in determining where to collect DNA evidence. Current presumptive tests lack the sensitivity and specificity molecular techniques can achieve; therefore, molecular methods, such as microRNA and microbial signatures, have been extensively researched in the forensic community. Limitations of each method suggest combining molecular markers to increase discrimination efficiency of multiple body fluids from a single assay. While microbial signatures have been successful in identifying fluids with high bacterial abundances, microRNAs have shown promise in fluids with low microbial abundance. A disadvantage of RNA analysis in forensic …

A Molecular Toolset For The In Vivo Detection Of A Sulfolobus Islandicus Leucyl Trna Synthetase Paralog, Nicholas Michael Bretz

Theses and Dissertations

An ancient and ubiquitous set of enzymes known as the aminoacyl-tRNA synthetases are required for the viability of all organisms. The aminoacyl-tRNA synthetases catalyze the attachment of amino acids onto tRNA molecules. The aminoacylated, or charged, tRNA is then transported and utilized at the ribosome for the synthesis of proteins. The genome of the hyperthermophilic microorganism Sulfolobus islandicus (S. islandicus) harbors a unique leucyl-tRNA synthetase paralog, LeuRS-I, of unknown function. While its duplicate, LeuRS-F, carries out all the classical functions of LeuRS-family enzymes, LeuRS-I fails to charge leucine onto tRNALeu, despite its ability to activate this amino acid and bind …

Identifying Positive Selection In Multiple Subspecies Of Xylella Fastidiosa, Daniel Doroteo Flores

Theses and Dissertations

For this study, we will be looking to identify positive selection in eight genomes of the bacterial plant pathogen Xylella fastidiosa. A previous study used a branching method that identified 2 genes with positive selection along with a site-specific method identifying 34 genes showing positive selection. This current study focused specifically on the site-specific method, resulting in 28 genes (of 1,039 tested) showing positive selection. Of the 28 genes showing positive selection, 12 of them come from the pathogenicity, virulence and cellular structural categories. The remaining genes are found in the biosynthesis, metabolism, macro metabolism, and cellular process categories. …