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Full-Text Articles in Life Sciences

Exploring Synthesized Cbd Derivatives: Implications Of Therapeutic Strategies For Neuroinflammation, Josephine Mosser Apr 2026

Exploring Synthesized Cbd Derivatives: Implications Of Therapeutic Strategies For Neuroinflammation, Josephine Mosser

Senior Theses

Cannabidiol (CBD) is a non-psychoactive phytocannabinoid derived from Cannabis Sativa with well-documented antioxidant and anti-inflammatory properties, yet its clinical utility is limited by moderate receptor selectivity, rapid hepatic metabolism, and broad pharmacological activity on the central nervous system (CNS). This thesis describes the design and partial execution of a multi-step synthetic route aimed at generating CBD/CBD-derived chalcone intermediates for potential therapeutic applications for neuroinflammation. The steps encompass an O-methylation, O-acetylation, and a Fries rearrangement. The first three steps were completed successfully and reproducibly shown through 1H-NMR and 12C-NMR; however, purification of the fourth step was not successful within the available …


Antibiotics And You: A Comprehensive Guide, Brady Haas Apr 2026

Antibiotics And You: A Comprehensive Guide, Brady Haas

Senior Theses

Antibiotic resistance is a rapidly emerging issue within public health. As resistance grows, the effectiveness of traditional antibiotic therapies diminishes while risk of treatment grows. Alongside novel therapies, public knowledge is a strong combatant of the resistance-related risks of antibiotic usage. Through a comprehensive review of current literature, this work serves as an accessible guide to the mechanisms of antibiotics, bacterial resistance, and the challenges related to current antibiotic usage. Additionally, the ability of current policy and emerging novel treatments, such as nanoparticles and bacteriophage therapy, to fight antibiotic resistance is evaluated. This analysis highlights the importance of improving public …


Cell-Free Mitochondrial Dna (Mtdna) Triggers Vascular Dysfunction Via Toll-Like Receptor 9 (Tlr9)-Dependent Activation Of Inflammasomes, Mohin Amin Apr 2026

Cell-Free Mitochondrial Dna (Mtdna) Triggers Vascular Dysfunction Via Toll-Like Receptor 9 (Tlr9)-Dependent Activation Of Inflammasomes, Mohin Amin

Senior Theses

Hypertension is the leading global risk factor for mortality and is closely associated with vascular inflammation and dysfunction. Damaged mitochondria release cell-free mitochondrial DNA (cf-mtDNA), which activates toll-like receptor 9 (TLR9). The binding of TLR9 to mtDNA activates the NLRP3 inflammasome pathway, promoting the release of pro-inflammatory cytokines via gasdermin D (GSDMD), therefore worsening inflammation. However, the mechanisms linking mitochondrial injury to inflammation-induced vascular dysfunction remain unclear. We hypothesize that cf-mtDNA triggers TLR9-dependent NLRP3 inflammasome activation contributing to vascular and endothelial dysfunction. To assess that, adult male C57BL/6 were exposed to 28 consecutive days of chronic unpredictable stress (CUS) or …


Heterogeneity Of Treatment Effects In Transcranial Direct Current Stimulation For Knee Osteoarthritis Pain And Symptoms, Chiyoung Lee, Xiaoxiao Sun, Juyoung Park, Chen X. Chen, Christine Pellegrini Ph.D., Nan-Kuei Chen, David O. Garcia, Heewon Kim, C. Kent Kwoh, Hyochol Ahn Apr 2026

Heterogeneity Of Treatment Effects In Transcranial Direct Current Stimulation For Knee Osteoarthritis Pain And Symptoms, Chiyoung Lee, Xiaoxiao Sun, Juyoung Park, Chen X. Chen, Christine Pellegrini Ph.D., Nan-Kuei Chen, David O. Garcia, Heewon Kim, C. Kent Kwoh, Hyochol Ahn

Faculty Publications

Introduction: Although heterogeneity of treatment effects (HTEs) is commonly observed in clinical trials, it has received little attention in studies on transcranial direct current stimulation (tDCS).

Objectives: This study identified the presence of HTE in tDCS treatment among participants with symptomatic knee osteoarthritis (KOA) and explored participant characteristics associated with this heterogeneity.

Methods: This secondary analysis of a randomized clinical trial included 120 participants with symptomatic KOA who received 15 daily sessions of home-based 2-mA active or sham tDCS over 3 weeks. We used a multitrajectory analysis to identify distinct subgroups based on the longitudinal trajectories of KOA pain and …


Heterogeneity Of Treatment Effects In Transcranial Direct Current Stimulation For Knee Osteoarthritis Pain And Symptoms, Chiyoung Lee, Xiaoxiao Sun, Juyoung Park, Chen X. Chen, Christine Pellegrini, Nan-Kuei Chen, David O. Garcia, Haewon Kim, C. Kent Kwoh, Hyochoi Ahn Apr 2026

Heterogeneity Of Treatment Effects In Transcranial Direct Current Stimulation For Knee Osteoarthritis Pain And Symptoms, Chiyoung Lee, Xiaoxiao Sun, Juyoung Park, Chen X. Chen, Christine Pellegrini, Nan-Kuei Chen, David O. Garcia, Haewon Kim, C. Kent Kwoh, Hyochoi Ahn

Faculty Publications

Introduction: Although heterogeneity of treatment effects (HTEs) is commonly observed in clinical trials, it has received little attention in studies on transcranial direct current stimulation (tDCS).

Objectives: This study identified the presence of HTE in tDCS treatment among participants with symptomatic knee osteoarthritis (KOA) and explored participant characteristics associated with this heterogeneity.

Methods: This secondary analysis of a randomized clinical trial included 120 participants with symptomatic KOA who received 15 daily sessions of home-based 2-mA active or sham tDCS over 3 weeks. We used a multitrajectory analysis to identify distinct subgroups based on the longitudinal trajectories of KOA pain and …


Synthesis Of Copper-Phenanthroline Complexes: A Solvothermal-Compatible Approach For The Exploration Of Metal Complexes, Yunping Zhoujin, Michael Anim Safo, Navindra Keerthisinghe, Mark D. Smith, Sophya Garashchuk, Hans Conrad Zur Loye Apr 2026

Synthesis Of Copper-Phenanthroline Complexes: A Solvothermal-Compatible Approach For The Exploration Of Metal Complexes, Yunping Zhoujin, Michael Anim Safo, Navindra Keerthisinghe, Mark D. Smith, Sophya Garashchuk, Hans Conrad Zur Loye

Faculty Publications

Inorganic–organic hybrid materials have been widely investigated for their applications in catalysis, optics, magnetism, and biomedicine. Copper halide complexes are of particular interest due to their structural diversity and physicochemical properties. Conventional crystal growth approaches, such as slow evaporation and hydro(solvo)thermal synthesis, typically require extended reaction times and often favor thermodynamically stable phases. In this study, we prepared ten copper-phenanthroline halide (X = Cl, Br, and I) complexes using both traditional hydrothermal reactions and microwave-assisted hydrothermal methods and obtained [CuI(C12H8N2)2][I3], [C12H9N2][CuI2]·(H2 …


Increased Backbone Rigidity Of Artificial Transcription Factors, Jasmine Glover, Emma Otey, Joanna K. Kwao, Nicholas Truex Apr 2026

Increased Backbone Rigidity Of Artificial Transcription Factors, Jasmine Glover, Emma Otey, Joanna K. Kwao, Nicholas Truex

Senior Theses

Programming DNA-binding proteins is an effective strategy for developing therapeutics that regulate gene expression. These proteins can directly bind to DNA to activate or repress transcription of specific genes. Zinc finger proteins are a class of DNA-binding proteins commonly found in eukaryotic organisms. Their DNA-binding function is derived from unique amino acid sequences within each domain that recognizes specific nucleotides, allowing each finger to selectively recognize three DNA base pairs. Adjoining of multiple domains in tandem allows recognition of a specific DNA sequence. Artificial transcription factors can be made of multiple zinc finger domains arranged in tandem and engineered to …


What Happens After The Program Ends? Maintenance Of Physical Performance And Resistance Exercise Participation Following Exercise Oncology Interventions, Alexander Matthew Brooks Apr 2026

What Happens After The Program Ends? Maintenance Of Physical Performance And Resistance Exercise Participation Following Exercise Oncology Interventions, Alexander Matthew Brooks

Theses and Dissertations

BACKGROUND: Cancer survivors frequently experience persistent impairments in physical performance that compromise functional independence, quality of life, and long-term health. While supervised exercise programs meaningfully improve physical performance, there is uncertainty regarding the durability of these benefits and the factors that influence long-term participation after programs end. Although exercise oncology programs typically include both aerobic and resistance exercise (RE), participation in RE tends to decline once supervision ends and remains lower than aerobic exercise over time. Therefore, the overarching aims of this dissertation were to: 1) evaluate the sustainability of physical performance improvements following exercise interventions in cancer survivors; 2) …


Assessing The Variabilities In Environmental Pollution, Health, And Socio-Economic Characteristics Of Communities In South Carolina, Subrena Alam Apr 2026

Assessing The Variabilities In Environmental Pollution, Health, And Socio-Economic Characteristics Of Communities In South Carolina, Subrena Alam

Theses and Dissertations

This study examined how environmental pollution, health conditions, and socio-economic characteristics vary across South Carolina (SC), and attempted to identify communities that face the increased environmental and public health risks. A geospatial dataset of environmental (air and water quality-related) as well as socio-economic indicators obtained from the U.S. Environmental Protection Agency (EPA)'s EJScreen platform (currently defunct) were used to assess spatial variability across the state. Results of our analysis indicated that communities in the Upstate region of SC appeared to be under the greatest environmental pollution risks. The Pee Dee region had the highest proportion of people of color and …


The Relationship Between Stress And Postpartum Depression-Related Behavior In Females And Its Potential Contribution To The Maternal Mortality Rate In The U.S., Sarah Chugh Apr 2026

The Relationship Between Stress And Postpartum Depression-Related Behavior In Females And Its Potential Contribution To The Maternal Mortality Rate In The U.S., Sarah Chugh

Senior Theses

Stress, especially social stress, has been a leading cause of disruptive emotional behavior in humans, with pregnant and postpartum women being the most vulnerable to these effects. Our study aimed to investigate the effects of gestational social stress on postpartum behavioral outcomes. To accomplish this, we examined the following four key behaviors in female rats after being exposed to chronic witness stress (WS) during pregnancy: burying, freezing, rearing, and grooming. Burying behavior is used to assess a defensive response to threatening situations. Freezing responses are evaluated to show heightened fear or hypervigilance that follows stress. Rearing is measured as an …


The Effects Of Climate Change On Competition And Recovery From Disturbance In An Iconic Marine Community, Lauren Tibbits Apr 2026

The Effects Of Climate Change On Competition And Recovery From Disturbance In An Iconic Marine Community, Lauren Tibbits

Senior Theses

This paper explores how the recovery of populations of Semibalanus balanoides is affected by climate variation. In intertidal marine ecosystems, larval recruitment is important in shaping all ecological processes. S. balanoides is a cold-water barnacle species that is competitively dominant over Chthamalus montagui and C. stellatus, two warm-water species. This competitive interaction is well studied, though it is not understood how that competition influences the recovery of S. balanoides after a disturbance nor how this process varies over a temperature gradient. 19 sites were studied across the United Kingdom, spanning from northern Scotland to southwestern England. At each site, a …


Discovering Drug-Like Compounds By Targeting Protein-Protein Interactions Using A Yeast-3-Hybrid System, Chesley C. Blake Apr 2026

Discovering Drug-Like Compounds By Targeting Protein-Protein Interactions Using A Yeast-3-Hybrid System, Chesley C. Blake

Senior Theses

Protein-protein interactions are important targets in cancer biology as they can make historically “undruggable” proteins viable drug targets. However, the current approach to targeting protein-protein interactions relies on the use of small molecule drugs, which have low efficiencies as they must cover a large surface area of the interaction. Further, traditional drug therapies often lead to off-target toxicity, limiting therapeutic specificity. The objective of this project is to develop a selection system in yeast to identify short peptide sequences that can disrupt protein-protein interactions specific to cancer cells. Following proof of principle and development of the AH109 yeast strain having …


Comparing Stress Levels And Experiences Between Mothers And Fathers Of Children With Angelman Syndrome, Katherine Helen Fix Apr 2026

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 Apr 2026

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 Apr 2026

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 …


Resting-State Functional Connectivity Of Dopaminergic Reward Pathways Across The Adult Lifespan, Julia Cardarelli Apr 2026

Resting-State Functional Connectivity Of Dopaminergic Reward Pathways Across The Adult Lifespan, Julia Cardarelli

Theses and Dissertations

This study investigates the effect of age on three major dopaminergic reward pathways using resting state functional magnetic resonance imaging. Resting state imaging refers to low-frequency brain connectivity in the absence of task demands or directed thought patterns. The pathways included in this thesis are as follows: the nigrostriatal, mesolimbic, and mesocortical pathways. These pathways rely on dopamine and are known for a variety of functions, most notably regulating responses to rewarding and aversive stimuli. This analysis compared the connectivity between key regions of interest, where transmission originates in the midbrain and substantia nigra, and terminates in the orbitofrontal cortex, …


Soil Macroinvertebrate Biodiversity Patterns In Congaree National Park And The Role Of Dna Barcoding, Sharon Ann Kendrick Apr 2026

Soil Macroinvertebrate Biodiversity Patterns In Congaree National Park And The Role Of Dna Barcoding, Sharon Ann Kendrick

Theses and Dissertations

Soil and leaf-litter invertebrates are important components of terrestrial biodiversity and contribute to key ecosystem processes such as decomposition, nutrient cycling, and soil formation. Despite their ecological importance, these communities remain difficult to document because many taxa are small, cryptic, or challenging to identify using morphology alone. This study examined patterns of soil macroinvertebrate biodiversity across habitats within Congaree National Park while also evaluating the usefulness of DNA barcoding for documenting taxonomic diversity. Sampling was conducted at 39 sites between September 2022 and October 2024 across upland, bottomland, and bluff habitats. Macroinvertebrates were collected separately from leaf litter and soil …


Developing Drosophila Melanogaster As An In Vivo Model Of Diet- Induced Chronic Inflammation, David Jonith Duncan Apr 2026

Developing Drosophila Melanogaster As An In Vivo Model Of Diet- Induced Chronic Inflammation, David Jonith Duncan

Theses and Dissertations

Diet impacts organismal health. Sub-optimal diets, such as obesogenic diets, can lead to long-term detrimental health effects. Over 60% of adults in the United States are overweight or obese, however the link between obesity and associated disease, such as chronic inflammation, remains unclear. Drosophila melanogaster is a useful in vivo model to better understand the effects of obesogenic diets on the immune response and begin examining the potential therapeutics of dietary plant compounds. Thus far, we find there is a difference in lifespan and reproduction patterns across the different control lines fed different standard diets. Oregon-R and yw control lines …


How And Why The Novel Personate Morphology Evolved In Penstemon Wildflowers, Trinity Hope Depatie Apr 2026

How And Why The Novel Personate Morphology Evolved In Penstemon Wildflowers, Trinity Hope Depatie

Theses and Dissertations

Adaptive radiations are characterized by the rapid evolution of novel traits making them excellent study systems to identify the genetic basis of adaptation. Floral adaptations often evolve rapidly as they are shaped by the strong selective pressures imposed by pollinators. The wildflower genus Penstemon is a recent radiation displaying a large amount of floral diversity including the repeated evolution of several floral traits. One novel floral trait displayed in Penstemon flowers is the personate morphology. Personate flowers are characterized by an upward bulge in the lower lobe of the corolla tube which seals off the floral passageway. This peculiar floral …


Dynamics Of Estuarine Optical Properties And Phytoplankton Communities In Winyah Bay, Sc, Camille Jolicoeur Michaud Apr 2026

Dynamics Of Estuarine Optical Properties And Phytoplankton Communities In Winyah Bay, Sc, Camille Jolicoeur Michaud

Theses and Dissertations

Estuarine systems present complex light environments due to large amounts of colored dissolved organic matter (CDOM) and turbidity that absorb and scatter light, respectively. Optical properties influence phytoplankton communities because their photosynthetic efficiency depends greatly on light availability. This study examined the optical properties of the Winyah Bay estuary in South Carolina using mixing diagrams and related these factors to phytoplankton biomass and community composition across the salinity gradient. Results showed that the behavior of optical properties and their relationship to chlorophyll-a (chl-a) changed under various environmental conditions, particularly river discharge and flushing time. While chl-a was correlated with salinity …


Microbial Ecology Of Fungi And Prokaryotes In Marine Environments, Madeleine Ann Thompson Apr 2026

Microbial Ecology Of Fungi And Prokaryotes In Marine Environments, Madeleine Ann Thompson

Theses and Dissertations

Microorganisms are the primary drivers of carbon and nitrogen cycling in marine ecosystems, yet the ecological roles of marine fungi and their interactions with prokaryotes remain poorly understood. This dissertation investigates the diversity, interactions, and functional contributions of fungal and prokaryotic communities across coastal and open ocean environments, with a focus on estuaries and oxygen minimum zones (OMZs). By integrating community-level, interaction-based, and functional analyses, this work addresses key gaps in understanding how fungi contribute to organic matter degradation and nutrient transformations in marine systems. Size-fractionated metabarcoding in the eastern tropical North Pacific OMZ reveals distinct free-living and particle-associated microbial …


Assessing The Impacts Of Wastewater In Occupational Health Risks And Monitoring Infectious Diseases Within Communities, Sarah Catherine Sellers Apr 2026

Assessing The Impacts Of Wastewater In Occupational Health Risks And Monitoring Infectious Diseases Within Communities, Sarah Catherine Sellers

Theses and Dissertations

Wastewater and wastewater treatment plants can both positively and negatively influence public health, due to their central role in socio-ecological systems in many communities. This dissertation aimed to fill key gaps in understanding their roles: as possible sources of occupational exposure and as tools for community disease monitoring and control. The three projects in this work examined these roles, focusing on how WWTPs can impact and inform public health at both occupational and community levels. Specifically, the study investigated the effects of chronic low-dose exposure to ARGs on WWTP workers' resistomes, evaluated the potential of WBE for building-level surveillance as …


Exploring Genetic Causes And Perspectives Of Uninformative Snp- Based Cell-Free Dna Prenatal Screening Results, Teeya Mercer Apr 2026

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 …


The Effects Of Whole-Body Vibration On Countermovement Jump Kinetics And Performance, Garrett Reese Evans Apr 2026

The Effects Of Whole-Body Vibration On Countermovement Jump Kinetics And Performance, Garrett Reese Evans

Theses and Dissertations

PURPOSE: Whole-body vibration (WBV) is reported to be an effective training modality for increasing vertical jump height. However, the underlying mechanisms are unclear because limited studies have examined the effects of WBV on kinetic variables underling jump height. The purpose of this study is to examine the effects of WBV on jump height (JH), modified reactive strength index (RSImod), and eccentric rate of force development (eRFD) during the countermovement jumps (CMJ) in recreationally-active young adults.

METHODS: Fifteen participants (13 male, 2 female, 21.5±1.89yr, 1.78±0.10m, 80.2±15.0kg) completed three randomly-ordered WBV exposures (0s, 30s, or 60s: 35Hz, 2mm amplitude). Three CMJ were …


Sex Differences In Cardiac Autonomic Response To Physical Exertion Following Concussion In Adolescents, Kiersten Isabella Mangold Apr 2026

Sex Differences In Cardiac Autonomic Response To Physical Exertion Following Concussion In Adolescents, Kiersten Isabella Mangold

Theses and Dissertations

Concussions, or mild traumatic brain injuries, are common amongst adolescent populations. Despite the qualifier of “mild”, these injuries can have a lasting impact on quality of life and school function. It has long been suggested that females experience poorer outcomes following concussion compared to their male counterparts, yet much research focuses primarily on male populations. Various theories have been proposed to explain these reported sex differences in concussion outcomes, ranging from socio-cultural differences in symptom reporting to neuroanatomical differences and the influence of sex hormones. Cardiac autonomic function (C-ANS) has emerged as a potential contributing mechanism to post-concussive symptoms. Although …


Evaluating The Effectiveness Of The Genetic Cancer Prevention Clinic As A Tool For Managing Patients At Elevated Risk For Cancer, Sydney Marlene Price Apr 2026

Evaluating The Effectiveness Of The Genetic Cancer Prevention Clinic As A Tool For Managing Patients At Elevated Risk For Cancer, Sydney Marlene Price

Theses and Dissertations

People with an inherited cancer predisposition but have not been affected with cancer or tumors themselves are known as previvors. A previous study suggested the need for the establishment of a specialized management clinic for previvors in the Midlands of South Carolina. In 2022, the Genetic Cancer Prevention Clinic (GCPC) was established to serve this patient population. This study examined effectiveness of the GCPC in helping previvors manage their psychological and medical needs. A mixed methods design consisting of a chart review of patients enrolled in the GCPC (N=34) and a semi-structured phone interview (n=3) was …


Bias Effects Of Priming Towards Huntington’S Disease Among Second- Year Medical, Physician Assistant, And Genetic Counseling Students, Cameron Lynn Galley Apr 2026

Bias Effects Of Priming Towards Huntington’S Disease Among Second- Year Medical, Physician Assistant, And Genetic Counseling Students, Cameron Lynn Galley

Theses and Dissertations

Individuals with Huntington’s Disease (HD) have experienced bias in their interactions with the public and with health professionals. This study explored perceptions of HD and potential bias among students in interdisciplinary health professions. We hypothesized that the presence of symptoms in vignettes would reflect increased implicit bias, participants with exposure to HD would show less bias than those without, and genetic counseling students would exhibit lower bias towards HD than medical and physician assistant students.

Attitudes towards those with HD were assessed through one of four vignettes about a fictional character in which a presymptomatic diagnosis was present or absent, …


Parent & Provider Perspectives On Rehabilitative Therapies For Children With Mucopolysaccharidosis Type Iii, Laura Denise Ciccarelli Apr 2026

Parent & Provider Perspectives On Rehabilitative Therapies For Children With Mucopolysaccharidosis Type Iii, Laura Denise Ciccarelli

Theses and Dissertations

Mucopolysaccharidosis type III (MPS III) is a neurodegenerative lysosomal storage disorder characterized by autistic behaviors and skill regression. Although there is currently no cure for MPS III, various therapeutic approaches are recommended to manage the associated clinical manifestations. The aim of this exploratory study was to assess the perspectives of parents and providers on rehabilitative therapy for their children or patients with MPS III. Furthermore, it evaluated the potential benefit of an MPS III therapy resource developed by genetic counselors. Interview and survey responses were collected between September 2025 and January 2026. Eligible providers included certified speech, physical, occupational, and …


Evaluating Genetic Counseling Perspectives Around The Use Of Chat-Ai As A Standardized Patient, Mary Claire Sherman Apr 2026

Evaluating Genetic Counseling Perspectives Around The Use Of Chat-Ai As A Standardized Patient, Mary Claire Sherman

Theses and Dissertations

Roleplays and standardized patients (SPs) are widely utilized and valued training tools in medical education. Artificial intelligence (AI) has emerged as a novel component of medical education, though its applications in genetic counseling remain underexplored. This study examined perceptions of genetic counseling students, recent graduates, and educators on chatbot artificial intelligence (chat-AI) as a SP in roleplay exercises. Eligible participants completed a survey requiring a roleplay interaction with ChatGPT. Standardized prompts included roleplay instructions and a framework based on the American Board of Genetic Counseling Practice-Based Competencies (PBCs) and the Reciprocal Engagement Model (REM) for chat-AI to provide feedback on …


Patient-Centered Insights Into The Triage And Diagnostic Experience Of Hypermobile Ehlers-Danlos Syndrome In Clinical Genetics Services., Rylan Makenzie Sweitzer Apr 2026

Patient-Centered Insights Into The Triage And Diagnostic Experience Of Hypermobile Ehlers-Danlos Syndrome In Clinical Genetics Services., Rylan Makenzie Sweitzer

Theses and Dissertations

Hypermobile Ehlers-Danlos syndrome (hEDS) is the only form of Ehlers-Danlos syndrome (EDS) without a known genetic etiology. One of the criteria for diagnosing hEDS is the exclusion of other possible causes. This often leads to referrals for a clinical diagnosis with a medical geneticist or genetic testing for other forms of EDS. This study aimed to investigate the education that individuals diagnosed with or suspected to have hEDS are receiving and what genetic providers include in their appointments with these patients. This study included two original online surveys. The first was sent to patients through providers at Indiana University and …