Browsing by Department "Human Genetics"
Now showing items 1-20 of 64
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(2013-12-05)Department: Human GeneticsMany recent studies have identified rare variants that contribute to common, complex disease. It is believed that rare variants likely have a larger effect size (compared to GWAS findings) and can act alone, in concert ...
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(2013-06-17)Department: Human GeneticsA BIPHASIC ROLE FOR THE VOLTAGE-GATED SODIUM CHANNEL SCN5LAB IN CARDIAC DEVELOPMENT OF ZEBRAFISH JEFFREY S. BENNETT Dissertation under direction of Professor Dan M. Roden, M.D. Voltage-gated sodium channels (VGSCs) play ...
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(2009-03-12)Department: Human GeneticsEvaluating epistasis in whole-genome association studies is an important challenge in human genetics, as many common diseases are thought to have complex underlying genetic architectures that include small independent ...
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(2016-03-28)Department: Human GeneticsPharmacogenomics offers one of the best use cases for widespread clinical implementation of genomic medicine, as variants tend to have moderate allele frequencies, many of the affected medications are relatively common, ...
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(2022-04-29)Department: Human GeneticsThe promise of genomic medicine has yet to be fully realized. In the realm of rare disease, one of the challenges faced by genomic medicine is that of variant interpretation. A majority of variants in clinically actionable ...
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(2008-03-04)Department: Human GeneticsAs the field of genetics explores beyond mapping single-site disease susceptibility loci, epistasis between genes is being considered in disease models. These hypotheses present new problems for investigators as they search ...
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(2012-04-26)Department: Human GeneticsHUMAN GENETICS DETERMINING THE ROLE OF GROWTH DIFFERENTIATION FACTOR-6 (GDF6) IN THE DEVELOPMENT OF THE CORONAL SUTURE DAWN ELIZABETH CLENDENNING Dissertation under the direction of Professor Douglas P. Mortlock Growth ...
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(2013-12-09)Department: Human GeneticsThe clinical course of multiple sclerosis (MS) is highly variable, and research data collection is costly and time-consuming. Much is known about the genetic risk of acquiring MS, but little is understood about the effect ...
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(2022-11-03)Department: Human GeneticsDivergent regulation of gene expression is a major driver of species divergence, however, the relationship between gene regulatory sequence evolution and its functional effects on gene expression are poorly understood. ...
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Enteric nervous system deficits in the ganglionated bowel of Hirschsprung mouse models and patients. (2014-11-26)Department: Human GeneticsHirschsprung disease, or congenital absence of ganglia in the distal intestine, occurs in approximately every 1 in 5000 live births. Although HSCR patients have the aganglionic portion of their colon removed, many suffer ...
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(2018-03-20)Department: Human GeneticsUterine fibroids, benign tumors of the uterus, are the most common female pelvic tumor. Fibroids are highly heterogeneous, with some women developing a single small fibroid while other women develop multiple and/or large ...
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(2022-03-16)Department: Human GeneticsDepression is a common psychiatric disorder characterized by decreased mood, anhedonia, irritability, or suicidal thoughts. In the clinic, laboratory testing provides physicians with targeted biochemical measurements, ...
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(2015-03-27)Department: Human GeneticsAlzheimer disease (AD) is the most common cause of dementia. As with many complex diseases, the identified variants do not explain the total expected genetic risk that is based on heritability estimates for AD. Isolated ...
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(2017-08-03)Department: Human GeneticsLung cancer is a leading cause of cancer in the United States and accounts for more deaths than prostate, breast, and colorectal cancers combined. Genetic variation has been known to play a role in lung cancer survival and ...
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(2017-08-08)Department: Human GeneticsUnderstanding the genetic and environmental factors contributing to blood pressure is an important step in elucidating the causes of hypertension, a disease of high blood pressure. African Americans experience the highest ...
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(2012-12-07)Department: Human GeneticsLate-onset Alzheimer disease (LOAD) is a complex neurodegenerative disorder with a strong genetic component. APOE is a well-established risk gene for LOAD, and several other genes have also been identified. However, at ...
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(2023-11-17)Department: Human GeneticsUterine fibroids (UF) are common benign tumors of the uterus affecting majority of females over their lifetime and are the number one cause of hysterectomies in the United States. Genetics are known to influence UF risk ...
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(2022-09-14)Department: Human GeneticsDespite a 1% prevalence of stuttering in the general adult population, developmental stuttering, characterized by blocks, repetitions, and prolongation of sounds in speech with a childhood onset, persists as a largely ...
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(2014-08-28)Department: Human GeneticsCardiovascular disease (CVD) is an inclusive term encompassing several disorders of the circulatory system that together account for the majority of global non-communicable disease (NCD) mortality. Major thrombotic events, ...
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(2013-07-17)Department: Human GeneticsPreterm birth (PTB), defined as live birth before 37 weeks’ completed gestation, is the leading cause of infant mortality worldwide. Despite this major public health concern, little is known about the pathogenesis of PTB. ...