Genetics and Genomics Commons^™

Deciphering The Functional Connections Between The Nuclear Paraspeckle And Rad51 Homologous Recombination Proteins Using A Yeast Protein Interaction System, Eric J. Nutz

Senior Theses

Homologous recombination (HR) is a repair pathway for DNA double-stranded breaks. Mutations in HR genes contribute to genomic instability and increase the prevalence of cancer. Exploiting HR deficiency in tumor cells has led to improved synthetic lethality outcomes. RAD51 paralogue protein complexes are known to be involved with HR. Proteomic analysis of RAD51 paralogues reveals a connection to the nuclear paraspeckle. A paraspeckle is a little-known, specialized organelle found in the interchromatin space of the nucleus in mammalian cells. Its three central protein components include SFPQ, NONO, and PSPC1. RAD51D is an HR protein shown previously to interact with SFPQ …

Jewish Genetic Diseases: Knowledge Of Reproductive Risk And Cancer Predisposition Among Young Adults Of Ashkenazi Descent, Hayley Kathleen Granger

Theses and Dissertations

Founder mutations within the Ashkenazi Jewish (AJ) population are associated with significantly higher carrier rates for certain severe, life-limiting conditions collectively called Jewish Genetic Diseases (JGDs), and for pathogenic variants in the BRCA1 and BRCA2 (BRCA1/2) cancer susceptibility genes. Efforts to educate AJ individuals about the implications of these founder mutations and available testing have increased the past forty years; however, studies suggest AJ individuals are not well educated on the topic (Hardy et al., 2022; Kaback, 2001; Warsch et al., 2014). Studies evaluating the reason for this gap in knowledge of young AJ adults are lacking. This study aimed …

Genetic Testing For Autism: The Autistic Adult Perspective, Thomas Scott Dent

Theses and Dissertations

Many professional medical organizations recommend some level of genetic testing as standard of care for those diagnosed with autism spectrum disorder. However, genetic testing related to the diagnosis of autism is seen as controversial by many in the autistic community. While opinions about genetic testing have been well-documented from the perspective of the parents of autistic children, our understanding of the autistic adult perspective remains limited. We implemented a descriptive, web-based survey of autistic adults to assess their awareness of, attitudes towards, and interests in genetic testing for autism (n = 145). Our data demonstrated that half of our participants …

Comparing Efficiency, Empowerment, And Satisfaction Between Individual And Group Genetic Counseling For Prostate Cancer, Sarah Marie Dickman

Theses and Dissertations

A hereditary cause for prostate cancer can be identified in 5-17% of cases, which can impact treatment and cancer screening recommendations for patients and their families. Increased demand for genetic testing has necessitated consideration of alternative genetic counseling service delivery models to meet needs. Studies have shown that group genetic counseling increases efficiency while maintaining the same patient benefits as individual genetic counseling, but research has mainly focused on patients who were assigned female at birth (AFAB). The purpose of this study was to evaluate the utility of group genetic counseling for prostate cancer by assessing participants’ satisfaction and feelings …

Face Validation Of A Spanish Non-Invasive Prenatal Screening Knowledge Scale, Kenya Michelle De Leon

Theses and Dissertations

Non-invasive prenatal screening (NIPS) provides risk assessment for chromosome aneuploidy in pregnancy. Previous studies in the United Kingdom and United States have attempted to measure patient knowledge, decisional conflict, and informed choice in cohorts of English-speaking pregnant patients who elected NIPS (Griffin et al., 2023; Lewis et al., 2016). However, knowledge scales utilized in these studies have not been validated. The current study was conducted in order to assess face validity of a Spanish NIPS knowledge scale that was originally written in English. This scale was developed as part of a larger project to ultimately provide more validated research measures …

Assessing The Gaps And Potential Solutions To Improve Access To Genetic Testing For Autistic Individuals, Nisha Dhiren Pandya

Theses and Dissertations

The prevalence of Autism Spectrum Disorder (ASD) continues to increase. Numerous genetic syndromes increase the risk of ASD. Professional organizations have published guidelines on the genetic testing recommended for Autistic individuals. However, healthcare providers do not unanimously offer genetic testing or refer for a genetics evaluation. Notably, parents of Autistic individuals express interest in learning about genetic testing as an option for their children.

This study aimed to identify gaps to improve access to genetic evaluations for Autistic individuals and their families. A survey was sent to healthcare providers across the United States that currently see Autistic individuals. We expected …

Evaluating Health Awareness In Cancer Genetics Amongst The Black And African American Community In South Carolina, Annika Jaliya Gadson

Theses and Dissertations

Historically minoritized individuals are underrepresented in genomic research which limits the ability to fully understand genetic variation within the population (Sirugo et al., 2019). This creates bias that questions the effectiveness of guidelines for genetic testing, predictive risk values, and medical management. Disparities in cancer genetics may be attributed to historical events that have cultivated mistrust in research and medicine, institutional bias, provider skepticism in patient reporting of medical symptoms, and limited access to genetic testing (Saulsberry et al., 2013). More exploration is needed to better understand how to increase access and awareness of cancer genetic services to Black and …

Be-03 Effects Of Dietary Iron On Taxonomic Composition And Function Of The Zebrafish Gut Microbiome, Megan D. Whisonant, Jeremiah L. Jackson, Sam L. Evans, Stuart Gordon Ph.D.

SC Upstate Research Symposium

A healthy gut microbiota is essential to promote host health and well-being, therefore, effects of dietary components on the gut microbiome are important to investigate as the gastrointestinal tract can be a major route of infection. Iron—an essential component of heme and iron-sulfur proteins—plays a central role in many biological activities, including oxygen transport and cellular respiration.

In particular, the iron homeostasis system is one of the best characterized due to iron's causative relationship with iron-deficiency anemia. Dietary iron supplementation is a commonly used treatment for iron deficiency anemia; however, the known direct impacts of iron on the gut microbiome …

Alu Dimorphism At The Pv92 Locus Of Chromosome 16 Is In Equilibrium For University Student Population, James M. Brooks, Mackenzie L. Thackston

Journal of the South Carolina Academy of Science

Alu is a retrotransposable element, which refers to its ability to be copied and move from one region of DNA to another DNA region. At the PV92 locus of chromosome 16, Alu is a 300 bp dimorphic insert that can either be present or absent. It does not encode a protein product and has lost the ability to transpose. It is specific to humans, and differences in genotype and allele frequencies between human populations are important tools in understanding evolution. In this research, data was obtained and analyzed from 269 students at Charleston Southern University (CSU) belonging to four different …

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 …

Exploring Genetic Counselors’ Experiences, Language, And Discussion Of Consanguinity In Clinical Practice: A Multinational Perspective, Romy Isabel Fawaz

Theses and Dissertations

Consanguinity, defined as the degree of relationship between closely related individuals, is a widespread historical practice that is not specific to any one religion, population, or region of the world. Genetic counselors regularly ask whether a reproductive couple is consanguineous as part of the review of family history and risk assessment. Couples who are in consanguineous relationship may be subject to negative attitudes and stigma, potentially due to cultural differences and norms at a population level and these attitudes may interplay with questions, answers, and discussions around consanguinity. We hypothesized that genetic counselors may experience some level of discomfort discussing …

Evaluation Of The Perceived Benefit Of A Psychiatric Resource For Parents Of Children With 22q11.2 Deletion Syndrome, Kayla Blankenship

Theses and Dissertations

The objective of this study was to assess the perceived utility of an educational resource booklet addressing the psychiatric manifestations and mental health considerations within 22q11.2 deletion syndrome (22q11.2DS).

Seventy-three parents of children with 22q11.2DS completed online surveys before and after reading the booklet. The surveys assessed personality factors and feelings of empowerment, worry, self-stigma, and ability to tolerate uncertainty.

Participants reported that the booklet was easy to understand, provided better understanding of 22q11.2DS and mental illness, answered questions about mental illness associated with the condition, improved knowledge of strategies for protecting the mental health of children with the condition, …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

Experiences With And Knowledge Of Genetics In Families Affected By Congenital Adrenal Hyperplasia: The Parent Perspective, Christine Maccia

Theses and Dissertations

Purpose: This project was conducted in order to assess how parents of a child affected by CYP21A2-related classic CAH experienced receiving genetic information, The goal was to determine their knowledge of the genetics of the condition and how that knowledge has affected different aspects of their lives such as emotional well-being. Methods: Parents of a child with classic CAH diagnosed in the past 10 years were invited to participate in an online survey via an advertisement posted in the support group, Major Aspects of Growth in Children. Survey questions consisted of demographic information, experience with the diagnostic process, knowledge of …

Assessing Social Media For Themes Of Trisomy 18 And 13, Falecia Metcalf

Theses and Dissertations

Themes within virtual communities have been explored examining topics such as prenatal diagnosis and termination for fetal anomalies, and it is known that when receiving a diagnosis of trisomy 18 or 13 parents may turn to online resources for information and emotional support. Knowledge of what content patients may encounter on various social media platforms about prenatal testing for trisomy 18 and 13 at large has not yet been established. However, this information would aid healthcare professionals in providing anticipatory guidance for patients using social media.

This study is a preliminary scan of social media to identify content areas and …

The Utility Of Whole Exome Sequencing In Patients With Intellectual Disability And Developmental Delay As A First-Tier Diagnostic Testing Strategy, Ellen Richardson

Theses and Dissertations

The purpose of this study is to evaluate the diagnostic utility of whole exome sequencing (WES) in patients with intellectual disability (ID) or developmental delay (DD), and to determine which patients may be the best candidates for WES as a first-tier diagnostic test. The diagnostic and clinical utility of WES has emerged to be greater than that of karyotype and chromosomal microarray for patients with ID or DD of unknown etiology, which are currently recommended as first-tier diagnostic tests for these patients. The emergence of next generation sequencing has led to more rapid identification of rare and novel genetic disorders. …

Evaluating Pregnancy Outcomes Of Abnormal Non-Invasive Prenatal Screening Results In A High Risk Obstetrics Practice, Olivia Kesler

Theses and Dissertations

Non-invasive prenatal screening (NIPS) has rapidly grown in uptake since its introduction to clinical practice in 2011. In contrast to more traditional methods of screening, NIPS is the first to utilize cell-free fetal DNA for risk assessment of chromosomal aneuploidy and other conditions. Clinical validity has been established for the most common autosomal aneuploidies (Trisomy 21, Trisomy 18, and Trisomy 13) and sex chromosome aneuploidies, though some laboratories screen for conditions beyond these. A screen positive does not always indicate a true positive, therefore professional guidelines recommend diagnostic testing for confirmation and informed decision making on pregnancy management. Furthermore, the …

Checkmate: Exploring Father-Son Communication Regarding Reproduction And Sexual Health In Males With Cystic Fibrosis, Dianna C. Sanderson

Theses and Dissertations

Cystic fibrosis (CF) is a heritable monogenic condition with allelic heterogeneity. A variety of sequence alterations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene results clinically in multisystem disease including a reduced reproductive capacity in affected males. Knowledge of reproductive capacity is often disclosed to parents by medical providers and to affected male children by medical providers and their parents. Despite advanced technology and therapeutics yielding the benefits of increased life expectancy and quality of life, males affected with CF largely remain uninformed in broader areas of sexual health and particularly in how their concept of masculine …

Revisiting The Essential Informational Needs Of Parents Receiving A Diagnosis Of Down Syndrome, Margaret Jean Wilkes

Theses and Dissertations

Down syndrome is a condition characterized by varying degrees of intellectual disability (ID), distinctive facial appearance, and congenital anomalies that results from the presence of a third 21st chromosome. Down syndrome is the most common chromosomal condition, affecting approximately 12.6 per 10,000 live births in the United States, making it imperative that we determine which information is most essential to impart to parents when first presenting the diagnosis. The aim of the present study is to reassess the informational needs of parents during the presentation of a Down syndrome diagnosis. In 2009, data were collected to define the essential information …

Cellular Localization Of Rad51d Mutant Proteins And The Application Of Art To Increase Scientific Literacy In America, Claire L. Chabot

Senior Theses

Ovarian cancers are the leading cause of death from cancer of the female reproductive system. Approximately 50% of ovarian cancers have defects in the homologous recombination (HR) DNA repair pathway that is required for the repair of DNA double-stranded breaks. The status of HR genes, such as BRCA1, BRCA2, and the RAD51 family, contributes to ovarian cancer development as well as treatment decisions regarding chemotherapy, radiation, and immunotherapy. The overarching goal of this project is to identify new insights into HR that can integrate with Precision Medicine Initiatives and align with the goals of the Cancer Moonshot 2020 Program. I …