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Full-Text Articles in Medical Genetics
In-Depth Analysis Of Next-Generation Sequencing (Ngs) And Bioinformatics Results In Pediatric Adgrv1 Compound Heterozygotes, Sloane Clay, Adele Evans, Chindo Hicks, David Otohinoyi
In-Depth Analysis Of Next-Generation Sequencing (Ngs) And Bioinformatics Results In Pediatric Adgrv1 Compound Heterozygotes, Sloane Clay, Adele Evans, Chindo Hicks, David Otohinoyi
Medical Student Research Poster Symposium
Genetic diagnosis of sensorineural hearing loss (SNHL) using NGS proves challenging when encountering multigenic, multiallelic variants of uncertain significance (VUS). These VUS make it difficult to provide anticipatory guidance regarding progressive disorders such as Type II Usher syndrome (SNHL at birth and retinitis pigmentosa in the second decade of life). With genetic testing companies are identifying, reporting, and reclassifying VUS at a rapid pace; there is a need for in depth-analysis and interpretation. For example, VUS in ADGRV1, a gene implicated in Type II Usher Syndrome, may be inherited in a compound heterozygous manner and misinterpreted as benign, when in …
The Fecal Position: Tracking Progressive Dna Repeat Expansion Via Stool Dna Extraction, Margaret Conrad, Hayley Ulloa, Ed Grabczyk
The Fecal Position: Tracking Progressive Dna Repeat Expansion Via Stool Dna Extraction, Margaret Conrad, Hayley Ulloa, Ed Grabczyk
Medical Student Research Poster Symposium
Friedreich Ataxia is a progressive DNA repeat expansion disease. Examining DNA repeat expansion in mouse models require sacrificing the mouse and taking samples of organs. The obvious non-lethal targets, such as ears, tails, and blood do not have levels of repeat expansion comparable to internal organs. However, recent publications suggest that stool may be a suitable non-lethal candidate for tracking repeat expansion over time. Stool DNA may allow researchers to monitor the effect of interventions aimed at slowing DNA repeat expansion over time without harming the mouse. A commercial kit was first used to extract DNA from feces without success. …
Development Of Genetic Strategies To Treat Vision Loss In Usher Syndrome Type 1c (Ush1c), Dongjoon (Jason) Kim, Inga Kristaponyte, Bhagwat Alapure, Katelyn Robillard, Wadih Zein, Robert Koenekoop, Maria Reinoso, Jennifer J. Lentz
Development Of Genetic Strategies To Treat Vision Loss In Usher Syndrome Type 1c (Ush1c), Dongjoon (Jason) Kim, Inga Kristaponyte, Bhagwat Alapure, Katelyn Robillard, Wadih Zein, Robert Koenekoop, Maria Reinoso, Jennifer J. Lentz
Medical Student Research Poster Symposium
Background: Usher Syndrome (Usher) is the most common genetic cause of deaf-blindness, characterized by the loss of hearing, vestibular function, and vision. Three clinical types (USH1- 3) and 10 genes are associated with the disease. USH1 is the most severe with congenital severeprofound sensorineural hearing loss and vestibular areflexia, and childhood onset of retinitis pigmentosa. Mutations in the USH1C gene account for 6-15% USH1, however USH1C c.216G>A (216A) accounts for nearly all USH1 cases in the Acadian populations in U.S. and Canada. The 216A splicing mutation results in a truncated harmonin protein, and photoreceptor and cochlear hair cell dysfunction. …
Mismatch In Mice And Men, Ryan Schroeder, Hayley Ulloa, Alan Williams, Ed Grabczyk
Mismatch In Mice And Men, Ryan Schroeder, Hayley Ulloa, Alan Williams, Ed Grabczyk
Medical Student Research Poster Symposium
Friedreich ataxia is a progressive degenerative neuromuscular disease that is caused by the expansion of a repetitive region of DNA, composed of three nucleotide repeats (GAA•TTC). Expansion of the DNA occurs throughout the lifespan of the patient and has been linked to the activity of specific DNA mismatch repair proteins. Disease onset occurs when the expansion increases in size beyond a certain threshold, silencing the gene and causing progressive ataxia, diabetes mellitus, and cardiomyopathy. These symptoms are linked to an increased repeat number observed within the heart, pancreas, and brain relative to other tissues within an individual. Friedreich ataxia is …
The Heart Of The Matter: Cardiac Specific Discrepancies Between Human And Mouse Models Of Friedreich Ataxia, Katherine Copenhaver, Ed Grabczyk
The Heart Of The Matter: Cardiac Specific Discrepancies Between Human And Mouse Models Of Friedreich Ataxia, Katherine Copenhaver, Ed Grabczyk
Medical Student Research Poster Symposium
Friedreich Ataxia (FRDA) is a relentlessly progressive neurodegenerative disease that manifests with multiple symptoms, which may include progressive gait and limb ataxia, loss of vibratory and position sense, progressive motor weakness, diabetes mellitus, and scoliosis. This condition also affects the heart, and hypertrophic cardiomyopathy is the cause of death in approximately 60% of patients. FRDA is a DNA repeat disorder, caused by the somatic expansion of GAA•TTC repeats within the first intron of the frataxin (FXN) gene. This leads to decreased FXN mRNA expression. The length of the repeat tract correlates with the severity of FRDA symptoms and inversely with …
Asymptomatic Covid-19 On Lsuhsc’S Campus: Antibodies, Pcr Tests, And Variants, Mallory K. Varnado, San Chu, Caroline Duncan, Ron Horswell, Lucio Miele, Judy Crabtree
Asymptomatic Covid-19 On Lsuhsc’S Campus: Antibodies, Pcr Tests, And Variants, Mallory K. Varnado, San Chu, Caroline Duncan, Ron Horswell, Lucio Miele, Judy Crabtree
Medical Student Research Poster Symposium
Background: Rapid spreading of the highly contagious severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused a pandemic of coronavirus disease 2019 (COVID- 19) which has infected 188,128,952 people and resulted in 4,059,339 deaths worldwide (WHO COVID-19 Dashboard). Despite profound disease prevention measures and recent attempts at widespread vaccination, the virus continues to mutate and infect new people each day. Objective: The goal of this study is to analyze the data collected from the COVID-19 screening and testing program at LSUHSC-New Orleans. This includes antibody testing data, exposure and symptom questionnaires, PCR viral testing, and viral RNA sequencing data from deidentified, …