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HBB Gene and Sickle Cell Disease
Get PDFSickle cell disease affects the shape of the red blood cells in our body, which can affect the oxygen carried to the rest of the body. The red blood cells become sickle-shaped, making it harder to pass through the body. Sickle cell disease affects around 100,000 people in the United States (CDC). More than 90% are African American or non-Hispanic black, and 3%-9% are Hispanic or Latino (CDC). Some mutations have been reported that are related to sickle cell disease, with HBB mutations highly correlated with sickle cell. This study aims to evaluate the specific missense mutations associated with HBB.https://ouscholars.oakwood.edu/student-posters/1071/thumbnail.jp
GATA1 Gene Variants Associated with Myeloproliferative Syndrome and its impact on Hematopoiesis
Get PDFMyeloproliferative syndrome (MPS) are rare blood cancers that originate from an abnormal mutation in a stem cell within the bone marrow, leading to excessive production of red blood cells, white blood cells, or platelets. These disorders affect approximately 20,000 individuals annually in the United States, with around 295,000 people currently living with the condition. The purpose of this study is to identify and assess the pathogenicity of GATA1 gene variants associated with MPS.https://ouscholars.oakwood.edu/student-posters/1092/thumbnail.jp
The Association of ABCA3 Variants in Hypertension Pathogenesis
Get PDFHypertension, commonly called high blood pressure, is a condition that affects the arteries in the body. The force of blood pushing against the artery walls being consistently too high leads to the overworking of the heart leading to hypertrophy of the heart over time. The purpose of this study is to identify and evaluate the pathogenicity of ABCA3 variants associated with hypertension.https://ouscholars.oakwood.edu/student-posters/1080/thumbnail.jp
An Analysis of SCO2 Variants Associated with Dilated Cardiomyopathy
Get PDFDilated cardiomyopathy (DCM) is a condition in which the heart becomes enlarged and cannot pump blood effectively. DCM affects an estimated 25-35% of individuals have familial forms of the disease, with most mutations affecting genes encoding cytoskeletal proteins, while some affect other proteins involved in contraction. The disease is genetically heterogeneous, but the most common form of its transmission is autosomal. This study\u27s purpose is to identify and assess the pathogenicity of the synthesis of cytochrome C Oxidase (SCO2) variants associated with DCM.https://ouscholars.oakwood.edu/student-posters/1122/thumbnail.jp
Defective Sickle Cell Mutations
Get PDFSickle cell disease (SCD) is a group of inherited red blood cell disorders. It is an inherited hemoglobinopathy. Both alleles must be affected to manifest the disease. In sickle cell disease, the red blood cells become hard, sticky, and look like a sickle, making it difficult to pass through the blood vessels and carry oxygen. Sickle cell trait is more prevalent than sickle cell disease and affects 1 in 13 African American babies (According to the CDC). The clinical manifestation of sickle cell trait is not as aggressive and does not cause as much morbidity as sickle cell disease. This study aimed to identify the gene variants associated with sickle cell disease.https://ouscholars.oakwood.edu/student-posters/1113/thumbnail.jp
Analysis of the CAPN10 Gene In Women With Polycystic Ovary Syndrome
Get PDFPolycystic Ovary Syndrome (PCOS) is a heterogeneous condition where a female has hormonal imbalances. A woman with PCOS ovaries produces abnormal high levels of androgens. Usually affected females have irregular menstrual cycles and further health issues which include diabetes type 2, ovarian cysts, and infertility. This study aims to investigate the association between mutations in the calpain10 gene and PCOS.https://ouscholars.oakwood.edu/student-posters/1074/thumbnail.jp
An Analysis of DAGLA Variants Associated with ADHD
Get PDFAttention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder characterized by impulsivity, difficulty focusing and staying on task, hyperactivity, including restlessness and excessive talking, and deficits in working memory. Individuals with ADHD may also struggle to maintain relationships, regulate emotions, and stay organized. The DAGLA gene has been associated with the ADHD phenotype and is primarily located in brain tissues. It is responsible for encoding diacylglycerol lipase alpha, an enzyme involved in the biosynthesis of key endocannabinoid 2-arachidonoyl glycerol (2-AG). This protein has been shown to play a major role in central nervous system development and synaptic elasticity. This study serves to identify variants of the DAGLA gene associated with ADHD and determine their pathogenicity.https://ouscholars.oakwood.edu/student-posters/1066/thumbnail.jp
An Examination of LACC1 variants Linked to Rheumatoid Arthritis
Get PDFRheumatoid arthritis is an inflammatory disease with an annual diagnosis rate of 70 cases per 100,000 people. This is a disease that is usually identified by the abnormal entry of immune cells, such as B lymphocytes, T lymphocytes, and innate lymphoid cells, into the synovial tissues of the joints. When these immune cells infiltrate the joints, they can become too active, thereby contributing to the chronic inflammatory response characteristic of the disease. The objective of this study is to identify and evaluate the pathogenic potential of LACC1 variants implicated in the pathogenesis of arthritis. Simple ClinVar identified LACC1 as a gene implicated in the pathogenesis of arthritis, along with its two distinct variants: Cys284Arg and Met1Ile.https://ouscholars.oakwood.edu/student-posters/1085/thumbnail.jp
Analysis of the ACTB Gene Pathogenicity and Its Impact on Dystonia Pathogenesis
Get PDFDystonia is a neurological movement disorder characterized by involuntary spasms or contractions of the muscles in one or more areas of the body, which may or may not be accompanied by pain. The precise cause of this disorder remains unclear, but it can be hereditary and affects women at twice the rate of men. (Mayo Clinic) This study will examine the pathogenicity of the ACTB gene and its impact on individuals with dystonia.https://ouscholars.oakwood.edu/student-posters/1083/thumbnail.jp
Mutations in the MMP20 Gene in Association with Amelogenesis Imperfecta
Get PDFEnamel, the hardest substance in the body, protects the teeth from various forces like temperature and physical factors that would cause damage. Depending on the kind of AI one has developed, the phenotypes can range from thin teeth to teeth discoloration or decay. MMP20, a gene commonly associated with AI, encodes for Enamelysin, a protein crucial for enamel formation. It is also known as matrix metallopeptidase 20. It becomes active when it is cleaved by cellular proteases. When this gene is mutated, the splicing pattern is altered. Consequently, this can cause disease. This study was developed to analyze the pathogenicity of the mutated MMP20 variants associated with AI.https://ouscholars.oakwood.edu/student-posters/1126/thumbnail.jp