Genetics and Genomics Commons^™

Barriers In Receiving A Diagnosis Of Sanfilippo Syndrome: Perceptions From Healthcare Providers And Caregivers, Cassidy Lena

Theses and Dissertations

Sanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting neurological functioning, behavior, and quality of life. Diagnosis is often not made until three to six years of age, but comprehensive and effective symptom management have been reported to optimize patient longevity. The aim of this study was to identify barriers to diagnosis and the corresponding impact on patients. This study surveyed healthcare providers and caregivers of individuals with Sanfilippo syndrome. Both quantitative and qualitative methods were employed to assess provider knowledge and comfortability in managing Sanfilippo syndrome. Additionally, it explored caregiver perspectives on healthcare system navigation, …

Differential Impacts On Proteoglycan Expression In The Response To Lens Wounding In Reparative And Pro-Fibrotic Microenvironments, Janice L Walker, A. Sue Menko

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Ex vivo lens epithelial explant cultures created through a technique that mimics cataract surgery provided an ideal model with which to compare the impacts on proteoglycan expression in the response to wounding in both reparative promoting and pro-fibrotic microenvironments. On their native basement membrane capsule the injured lens epithelium undergoes regenerative repair, with the wound closing within a few days. Their migration across the wound area is led by a population of activated lens resident immune cells. The same leader cell population also directs the wounded epithelium to migrate off the outside edges of the lens explant across the surrounding …

The Cellular Trafficking And Targeting Of Angiotensin-Converting-Enzyme-2 (Ace2) And Neutral-Amino-Acid-Transporter (B0at1) Variants: Implications For The Pathogenesis Of Associated Diseases And Therapy, Nesreen Fayyad Alkhofash

Dissertations

Angiotensin-converting enzyme 2 (ACE2) and the neutral amino acid transporter B0AT1, encoded by SLC6A19, are membrane proteins with pivotal roles in human physiology. ACE2 is involved in regulating blood pressure and serves as the cellular entry receptor for SARS-CoV-2, while B0AT1 facilitates amino acid absorption in the intestine. The interplay between ACE2 and B0AT1, particularly their physical interaction and co-expression in the intestine, underscores their relevance in both normal physiology and disease. Dysregulation of these proteins has been implicated in conditions such as hypertension, and Hartnup disease and they have been usurped by SARS-CoV-2 to cause COVID-19. Despite their …

Genetics Education Booklets Designed For Individuals With Intellectual Disability: Perspectives From Adults With Intellectual Disability And Genetic Counselors, Audrey Hyun Sook Parrott

Theses and Dissertations

Visual aid tools have been consistently suggested across literature aimed at identifying methods of improving health and genetics services for individuals with intellectual disability (ID). Aids written in plain language are suggested most often. The study intends to gain perspectives from adults with ID (AWID) and genetic counselors (GCs) on Easy Read genetics educational booklets designed for individuals with mild ID. We anticipate that GCs will find the booklets to be useful and accurate, and that AWID will find the booklets to be helpful to their understanding and comprehensible. The AWID were assessed via a self-reported survey, cognitively adapted for …

An Exploratory Study Of Disclosure Of X-Linked Conditions Between Mothers And Daughters, Madge Isabella Stuhlreyer

Theses and Dissertations

Carriers of X-linked conditions, both asymptomatic and symptomatic, face unique challenges regarding their experiences navigating the healthcare system and understanding implications of their carrier status. Studies show that mothers are known to be the main communicators of genetic information within their families, but in families affected with X-linked conditions, communication between mothers and daughters are hindered by factors such as lack of knowledge about the condition and reproductive implications, lack of emotional support, anxiety, and uncertainty about how to initiate these conversations. The purpose of this study was to explore the motivations behind mothers' decisions to initiate conversations with their …

Increasing Diversity In The Genetic Counseling Profession: Determining Effective Career Education Strategies For Underrepresented Youth, Bryel Marie Frasch

Theses and Dissertations

Genetic counseling is a professional career path that is lacking in diversity, and diversity in healthcare has been shown to improve health outcomes. Studies suggest student engagement as a way to increase diversity, as early knowledge of genetic counseling increases the likelihood of considering it as a career and is especially true for racial or ethnic minoritized students. This study focused on educating high school students underrepresented in genetic counseling about the career and exploring the effectiveness of two different types of education methods (video vs in-person) to give valuable information for future outreach efforts. Upward Bound and Federal TRIO …

Newborn Screening For X-Linked Adrenoleukodystrophy: Experiences, Perspectives, And Future Directions For Genetic Counseling, Sophia Salvatore

Theses and Dissertations

There is a notable lack of research regarding genetic counseling practices for infants with screen-positive results for X-linked adrenoleukodystrophy (X-ALD) via newborn screening (NBS). The exploratory study aimed to understand the experiences of genetic counselors providing follow-up care for these infants, assess the complexities associated with NBS for X-ALD, identify potential gaps in genetic counseling practices, and describe the subsequent impact on patient care. A mixed-methods approach was utilized, incorporating an initial survey and optional semi-structured interviews with practicing genetic counselors who had seen a minimum of five cases of infants with screen-positive results for X-ALD in the last two …

Differential Gene Coexpression In 16p11.2 Autism Spectrum Disorder, Joseph Patacsil

Senior Theses

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that has been associated with several genetic factors. One of these factors is a mutation of the 16p11.2 region on chromosome 16, in which both deletions and duplications have been strongly associated with ASD. KCTD13 is a gene in the 16p11.2 gene locus that has recently been shown to influence brain development and is also associated with ASD. This study analyzes the differential gene expression and gene pathways of these different phenotypes. KCTD13 deletion had a significant up-regulation effect on genes and shares similar pathways to the 16p11.2 duplication mutation. Mutations in …

Crispr-Induced Mutagenesis Of Arabidopsis Thaliana Gene Apetala3, Hazel Frans, Tara Phelps-Durr

SACAD: Scholarly Activities

This project aims to create CRISPR-CAS9 mutations in the APETELA3 (AP3) gene of the model plant Arabidopsis thaliana. AP3 is a class B gene critical to the petal and stamen development of Arabidopsis flowers. AP3 is defined in a MADS domain, which binds directly to DNA and may be responsible for the expression of the CaRG-box genes. AP3 works in conjunction with PISTILLATA (PI), AGAMOUS (AG), APETALA1 (AP1), and SEPALLATA (SEP) genes to specify the development in the second and third whorls of the flower. While several alleles of AP3 already exist, these alleles are strong alleles that knockout gene …

Aspen Health On National Forests In The Northern Rocky Mountain Region (2008/2009 To 2024), James T. Blodgett, Kurt K. Allen, Megan Wilson, Bradley Lalande

Aspen Bibliography

Quaking aspen (Populus tremuloides) is a widely distributed species in the western United States, but in the northern Rocky Mountain Region it is a rare forest component. In national forests (NF) of the northern Rocky Mountain Region this species comprises only 1% of the Bighorn, 3% of the Black Hills, and 1% of the Shoshone cover types (DeBlander 2002, Menlove 2008, Witt 2008). Since aspen forests provide increased species richness, support wildlife, are an important component of watersheds, and have aesthetic value, there are concerns regarding the health of this relatively rare forest cover type.

Studies On Cell Cycle Regulation And Ecm Modification During Tubular Organ Formation In Drosophila Embryos, Jeffrey Matthew

LSU Doctoral Dissertations

The formation of tubular organs—such as the heart and kidneys—is a complex developmental process that requires the precise coordination of tissue remodeling with dynamic changes in cellular behavior. Key processes including cell proliferation, apoptosis, and extracellular matrix (ECM) formation must be tightly synchronized with mechanisms that generate and transmit physical forces, transforming a flat epithelial sheet into a three-dimensional organ. Disruptions in the homeostasis of these processes during organogenesis can lead to congenital defects, such as pulmonary atresia and renal hypoplasia.

To investigate the mechanisms underlying epithelial morphogenesis, the Chung laboratory employs the Drosophila embryonic salivary gland (SG) as a …

A Study To Identify The Causal Rare Genetic Variants In Primary Open And Closed Angle Glaucoma, Pseudoexfoliation Syndrome, And Associated Glaucoma, Suganya K

Theses and Dissertations

BACKGROUND: Glaucoma is the second most common cause of blindness globally typically diagnosed with a triad of clinical symptoms of increased intraocular pressure (IOP) with associated optic disc, optic nerve head (ONH) changes, and visual field defects. Genetic and environmental factors are some of the strong aetiology factors for glaucoma and identification of these factors has a potential implication in the management of the disease and its outcome. There is a paradigm shift towards understanding the genetics of glaucoma, wherein the variants in the nuclear, mitochondrial genome and other regulatory regions are being identified as contributing risk factors.

METHODOLOGY AND …

Genomics Yields Biological And Phenotypic Insights Into Bipolar Disorder, Kevin S. O’Connell, Maria Koromina, Tracey Van Der Veen, Toni Boltz, Ney Alliey Rodriguez

School of Medicine Publications

Bipolar disorder is a leading contributor to the global burden of disease¹. Despite high heritability (60–80%), the majority of the underlying genetic determinants remain unknown². We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.8 million controls), combining clinical, community and self-reported samples. We identified 298 genome-wide significant loci in the multi-ancestry meta-analysis, a fourfold increase over previous findings³, and identified an ancestry-specific association in the East Asian cohort. Integrating results from fine-mapping and other variant-to-gene mapping approaches identified 36 credible genes …

Contrasting Effects Of Climate Warming On Hosts And Parasitoids: Insights From Rocky Mountain Aspen Leaf Miners And Their Parasitoids, Alisha A. Shah, Emily Hamant, Juan G. Rubalcaba, Beau Larkin, Andrew A. Forbes, H. Arthur Woods

Aspen Bibliography

Because temperature has pervasive effects on biological rates, climate warming may alter the outcomes of interactions between insect hosts and their parasitoids, which, for many host species, constitute the single largest source of mortality. Despite growing interest in parasitoid-host responses due to climate change, there are few empirical tests of thermal tolerance differences between non-model lepidopteran hosts and their parasitoids and almost none from mountain ecosystems where warming is occurring more rapidly. We examined the thermal ecology of a host–parasitoid interaction in the Rocky Mountains using the wild populations of the aspen leaf miner (Phyllocnistis populiella) and a …

Draft Genome Data Including Functional Annotation Of An Emerging Fungal Pathogen (Neodothiora Populina) Causing A Canker Disease Of Trembling Aspen In Interior Alaska, Ursel M. E. Schütte, Mace Wages, Aaron Buechlein, Jorda P. Kovash, Danielle C. Wrenn, Tereza Smrhova, Andrea Zubrova, Doug B. Rusch, Loretta M. Winton, Gerard C. Adams, Roger W. Ruess, Mary Beth Leigh, Devin M. Drown

Aspen Bibliography

Neodothiora populina is a black yeast-like fungus in the family Dothioraceae. It causes an aggressive canker disease of trembling aspen that results in widespread mortality of aspen across the boreal forest of Interior Alaska. Here we report a high-quality draft genome including functional annotation of this emerging fungal pathogen based on Oxford Nanopore Technologies long-read sequences. Our initial genome assembly totaled 23,960,169 bp and contained 18 contigs, and we identified 7,343 genes. This resource announcement provides new genomic data that are useful long term for improving our understanding of forest health in Alaska.

Morphological, Molecular, And Morphometric Analysis Of Aphelenchoides Besseyi On Organic Rice (Oryza Sativa) Seeds In The Beringin District, Deli Serdang Regency, Indonesia, Suswati Suswati, Azwana Azwana, Ifan Aulia Candra, Fitrianingrum Kuniawati, Khofifah Muhaimini Siregar, Asmaul Hasanah, Aldy Elvanandar Nasution

Makara Journal of Science

Aphelenchoides besseyi, a nematode, can infect rice resulting in the white shoot disease, which decreases the germina-tion rate and even causes seedling death. A. besseyi has recently been reported to mainly attack the organic rice varie-ties especially Pandanwangi and Ciherang in the Pasar Kawat, Beringin District, Deli Serdang, Indonesia. This research investigated A. besseyi via morphological, molecular, and morphometric approaches. The nematodes were observed in an area of 2000 m2, divided into five sample plots each with an area of 400 m2 on which Pandan Wangi and Ciherang rice were cultivated. Nematode morphology was observed using a stereo microscope at …

The Design, Construction, And Testing Of Mrna Vaccine Against Equine Herpes Virus, Bhawana Devkota

LSU Master's Theses

Equine Herpesvirus-1 (EHV 1) is a worldwide significant pathogen that causes respiratory illness, abortion, and neurological disorders in equine. Current vaccines, including live attenuated, inactivated, and subunit platforms, do not prevent viral latency, mucosal shedding, or cross-strain immunity, requiring alternative approaches. To address these gaps, this project explores the design, synthesis, and in vitro testing of an mRNA vaccine targeting immunogenic EHV 1 glycoprotein (gB, gC, gD, gG, and gM). Epitopes were computationally predicted using the Immune Epitope Database (IEDB), codon-optimized for Bos taurus, and cloned into pUCIDT vectors using SP6/T7 promoters. In vitro transcription (IVT) used nucleotide modifications …

What Single-Cell Rna Sequencing Taught Us About Mgmt Expression In Glioblastoma, Iyad Alnahhas, Mehak Majid Khan, Wenyin Shi

Department of Neurology Faculty Papers

Background.

The promoter methylation status of O-6-methylguanine-DNA methyltransferase (MGMTp) is an important prognostic marker in GBM. Previous studies showed that the expression of MGMT based on immunohistochemistry did not correlate with survival. This is partly because nontumor cells express MGMT. Single-cell sequencing assesses gene expression in tumor cells specifically.

Methods.

We used publicly available data from 3 recent single-cell/nucleus sequencing GBM studies that included MGMTp methylation status data for patients to evaluate MGMT expression at the single-cell level.

Results.

In the CPTAC study, a median of 0.82% and 5.7% of tumor cells expressed MGMT in the …

Rare Damaging Ccr2 Variants Are Associated With Lower Lifetime Cardiovascular Risk, Marios K. Georgakis, Rainer Malik, Omar El Bounkari, Natalie R. Hasbani, Jiang Li, Jennifer E. Huffman, Gabrielle Shakt, Michael C. Mahaney, Joanne E. Curran, John Blangero

School of Medicine Publications

Background

Previous work has shown a role of CCL2, a key chemokine governing monocyte trafficking, in atherosclerosis. However, it remains unknown whether targeting CCR2, the cognate receptor of CCL2, provides protection against human atherosclerotic cardiovascular disease.

Methods

Computationally predicted damaging or loss-of-function (REVEL > 0.5) variants within CCR2 were detected in whole-exome-sequencing data from 454,775 UK Biobank participants and tested for association with cardiovascular endpoints in gene-burden tests. Given the key role of CCR2 in monocyte mobilization, variants associated with lower monocyte count were prioritized for experimental validation. The response to CCL2 of human cells transfected with these variants was tested …

Bryce Canyon Aspen: Recent Trends, Future Actions, Paul C. Rogers

Aspen Bibliography

In cooperation with Bryce Canyon National Park, we undertook a survey of quaking aspen (Populus tremuloides Michx.) conditions throughout the Park with the intention of better understanding conditions and prescribing corrective measures where needed. There are clear disparities within the Park between sustainable aspen conditions and failing stands. Based on condition of mature trees, but most importantly regeneration and recruitment of juvenile stems, most aspen forests within Bryce Canyon are in poor condition. Aspen recruitment—generally sapling-sized trees that have survived browsing ungulates—is the most important metric of future stand resilience and here we found 83% of all aspen sample …