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 …

Centers For Mendelian Genomics: A Decade Of Facilitating Gene Discovery, Samantha M Baxter, Jennifer E Posey, Nicole J Lake, Nara Sobreira, Jessica X Chong, Steven Buyske, Elizabeth E Blue, Lisa H Chadwick, Zeynep H Coban-Akdemir, Kimberly F Doheny, Colleen P Davis, Monkol Lek, Christopher Wellington, Shalini N Jhangiani, Mark Gerstein, Richard A Gibbs, Richard P Lifton, Daniel G Macarthur, Tara C Matise, James R Lupski, David Valle, Michael J Bamshad, Ada Hamosh, Shrikant Mane, Deborah A Nickerson, Heidi L Rehm, Anne O'Donnell-Luria

Faculty, Staff and Student Publications

PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration.

METHODS: Over the past 10 years, the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution.

RESULTS: We highlight the cumulative gene discoveries facilitated by the program, biomedical research leveraged by the approach, and the larger impact on the research community. Beyond generating a list of gene-phenotype relationships …

Origin And Epigenetic Regulation Of Cutaneous T Cell Lymphoma, Carly M. Harro

USF Tampa Graduate Theses and Dissertations

The pathogenesis of Cutaneous T cell lymphoma (CTCL) remains unclear. Using conditional knockout mice, we found that ablation of the genomic organizer Special AT-rich sequence-binding protein-1 (Satb1) caused malignant transformation of mature, skin-homing, Notch-activated CD4+ and CD8+ T cells into progressively fatal lymphoma. Mechanistically, Satb1 restrained Stat5 phosphorylation and the expression of skin-homing chemokine receptors in mature T cells. H3K27 and H3K9 trimethylation occluded the SATB1 promoter in Sézary cells, while inhibition of SUV39H1/2 methyltransferases (unlike EZH2 inhibition), restored protective SATB1 expression and selectively abrogated the growth of primary Sézary cells more effectively than romidepsin. Additionally, using single-cell RNA/TCR sequencing …

Emulating Succession Of Boreal Mixedwood Forests In Alberta Using Understory Protection Harvesting, Ivan Bjelnanovic, Philip G. Comeau, Sharon Meredith, Brian Roth

Aspen Bibliography

Understory protection harvesting is a form of partial cutting that can be used in aspen (Populus tremuloides Michx.)-dominated stands that have understories of white spruce (Picea glauca (Moench) Voss). This practice involves removing 75% to 85% of the merchantable aspen while minimizing damage to the advance spruce regeneration, in addition to leaving 15% to 25% of the aspen standing to reduce potential windthrow of the spruce understory. In this paper, we summarize results from 18 stands measured 10 to 12 years after understory protection harvest. Diameter growth of spruce increased during the first five years after harvest while …

Alzheimer's And Patient Caregiver Burnout: A Review Of The Literature, Madeline Hekeler

James Madison Undergraduate Research Journal (JMURJ)

The term “silent epidemic” is fitting for Alzheimer’s disease (AD), as its negative impact is widely felt but rarely discussed. Burnout among AD caregivers has become an epidemic of its own as caregivers experience an increase in health risks, stress, and financial burden. This literature review focuses on caregiver burnout and how imperative it is that caregivers are better supported in their role. Researchers have developed instruments to assess and intervene in caregiver burnout that have shown effectiveness among caregivers and their families.Nevertheless, further longitudinal research is warranted regarding more effective interventions, including stress management and social support mechanisms.

Meta-Analysis Of Two Rnaseq Datasets To Determine Diagnostic Biomarkers And Drug Target Candidates For Periodontitis, Carlos Moreno

Annual Research Symposium

No abstract provided.

Rna Broccoli Aptamer To Track Transcription Rates In Vitro, Sarah Hodson

Annual Research Symposium

No abstract provided.

Response To A Water Bolus In Long Term Oral Contraceptive Users, Whitley C. Atkins, Brendon P. Mcdermott, Abigail T. Colburn, Stavros A. Kavouras

Health, Human Performance and Recreation Faculty Publications and Presentations

The purpose of our study was to determine the responses to an acute water bolus in long-term oral contraception (OCP) users. Seventeen female volunteers (27 ± 5 y, 64.1 ± 13.7 kg, 39.6 ± 5.9 kg/LBM) provided consent and enrolled in our study. All were long-term OCP users and participated in two trials, one during the active pill (High Hormone, HH) dose of their prescribed OCP and one during the sham pill (Low Hormone, LH) dose. Participants reported to the laboratory euhydrated, were fed breakfast, remained seated for 60 min and were provided a bolus of room temperature water in …

Evaluating And Improving A Novel Toolkit For Implementation And Optimization Of Lynch Syndrome Universal Tumor Screening, Tara M. Wolfinger

USF Tampa Graduate Theses and Dissertations

Individuals with Lynch syndrome (LS) have a hereditary predisposition to colorectal cancer (CRC), endometrial cancer (EC), and several additional cancer types. Universal tumor screening (UTS) is a systematic approach that increases identification of LS so affected individuals can benefit from targeted therapies and risk-reduction strategies to decrease cancer- related morbidity and mortality. Despite the known benefits of UTS, the practice is widely underutilized, likely due to the complexity of implementation and optimization. We developed a novel evidence-based toolkit to help institutions implement and optimize UTS programs. As part of an iterative evaluation process, we obtained feedback on the toolkit through …

The Large And Small Of It: The Microbiome And Metagenomics, Austin Hopkins, Elaina Gollmar, Jessica Fernandez, Shawn Wolf, Austin Hilverding, Andrew M. Roecker

Pharmacy and Wellness Review

Metagenomics, the analysis of the microbial genome, permits scientists to understand the influences of external sources including diet, metabolism and antibiotics on the human microbiome. Research has revealed the possibility of a core symbiosis between humans and bacteria. The main role of the human microbiome is to aid in digestion, but identified ancillary roles include immunologic homeostasis and infection prevention. Quantifying the composition and variability of the microbiome will help lead to future treatments or preventive strategies against unhealthy change. A variety of methods may be used to define the microbiome, and 16S amplicon sequencing is primarily utilized today. Probiotics …

Assessing Reported Use Of Clinical Genetic Counseling Skills, Nicole M. Wright

USF Tampa Graduate Theses and Dissertations

Genetic Counseling (GC) is striving to become a more evidence-based field, but the absence of a clearly defined taxonomy of clinical skills is impeding efforts to systematically study and compare GC processes. Several frameworks such as the Reciprocal Engagement Model (REM) and FOCUS-GC have outlined strategies and behaviors used to meet patient needs, but neither include comprehensive descriptions of existing skills or delineate which are actually being used most commonly in clinical practice. The purpose of this study was to compile a large list of demonstrable genetic counseling skills and determine how often clinical genetic counselors (GCs) report using them …

Inaccuracies In Patient Self-Report Of Genetic Testing Results For Hereditary Cancer Risks Could Impact Risk-Management Practices, Brittany Faye Sears

USF Tampa Graduate Theses and Dissertations

Pathogenic variants (PV) or likely pathogenic variants (LPV) in a cancer risk gene increase lifetime risks of developing cancer. National guidelines provide evidence-based recommendations on cancer risk management (CRM) strategies tailored to the cancer risks associated with PV/LPV in different genes. Emotional responses after learning of a PV/LPV have been studied as predictors of patient adherence to CRM, but less attention has been given to whether patients remember their actual genetic test results and the impact this may have on subsequent adherence to CRM. We surveyed a group of 114 participants registered with the Inherited Cancer Registry (ICARE), all of …

Genetic Variation Of The Mitochondrial Dna Control Region Across Plains Bison Herds In Usa And Canada, Gaimi Davies, Blake Mccann, Lee Jones, Stefano Liccioli, Maria Cecilia Penedo, Igor V. Ovtchinnikov

Biology Faculty Publications

Once numbering in the tens of millions, bison (Bison bison) have faced a broad range of challenges over the past century, including genetic impacts from the population bottleneck in the 1800s, and significant loss and fragmentation of habitat resulting in little opportunity for population growth on remaining small, geographically isolated reserves. To identify best practices for bison stewardship against this backdrop, managers must understand the genetic composition of existing conservation herds. This study characterized 14 plains bison (Bison bison bison) herds managed by the U.S. Department of Interior and Parks Canada Agency based on complete mtDNA …

Variants Within Genes Edil3 And Adgrb3 Are Associated With Divergent Fecal Egg Counts In Katahdin Sheep At Weaning, Gabrielle M. Becker, Joan M. Burke, Ronald M. Lewis, James E. Miller, James L.M. Morgan, Benjamin D. Rosen, Curtis P. Van Tassell, David R. Notter, Brenda M. Murdoch

Department of Animal Science: Faculty Publications

Gastrointestinal nematodes (GIN) pose a severe threat to sheep production worldwide. Anthelmintic drug resistance coupled with growing concern regarding potential environmental effects of drug use have demonstrated the necessity of implementing other methods of GIN control. The aim of this study was to test for genetic variants associated with resistance or susceptibility to GIN in Katahdin sheep to improve the current understanding of the genetic mechanisms responsible for host response to GIN. Linear regression and casecontrol genome-wide association studies were conducted with high-density genotype data and cube-root transformed weaning fecal egg counts (tFEC) of 583 Katahdin sheep. The casecontrol GWAS …

Cell-Free Dna Methylation Signatures In Cancer Detection And Classification, Jinyong Huang

USF Tampa Graduate Theses and Dissertations

Early detection of cancer is believed as one of the best solutions to improve the therapeutic outcomes and overall survival of cancer patients. Analysis of circulating nucleic acids in bodily fluids, referred to as “liquid biopsies”, is rapidly gaining prominence for this purpose. Cell-free DNA (cfDNA) methylation has emerged as a promising biomarker for early cancer detection, tumor type classification, and treatment response monitoring. Currently, most cfDNA methylation profiling technologies are based on bisulfite conversion, while enrichment-based methods such as cfMeDIP-seq are beginning to show potential. To expand the use of enrichment-based methods in cfDNA methylation profiling, here, we report …