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Genetics and Genomics

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Incorporating A Developmental Perspective Into Gene Identification Models For Alcohol Use Behaviors, Nathaniel S. Thomas Jan 2023

Incorporating A Developmental Perspective Into Gene Identification Models For Alcohol Use Behaviors, Nathaniel S. Thomas

Theses and Dissertations

Frequent alcohol use can lead to alcohol use disorder, which accounts for three million deaths and over 133 million life years lost to disability and death worldwide per year. Alcohol use behaviors unfold across development, beginning with initiation of drinking and progressing through various escalating stages of use. Alcohol use behaviors are also under genetic influence. Genome-wide association represents the state-of-the-science statistical methodology for identifying genes associated with alcohol use outcomes. However, contemporary genome-wide association study (GWAS) methods typically do not account for variability in genetic effects throughout development. In this project, I applied novel multivariate genomic methods to combine …


Developmental Regression Analysis And Investigation Of Genotype Correlations In Individuals With Classic Rett Syndrome, Aubrey Lynn Rose Apr 2021

Developmental Regression Analysis And Investigation Of Genotype Correlations In Individuals With Classic Rett Syndrome, Aubrey Lynn Rose

Theses and Dissertations

Rett syndrome (RTT) is a neurodevelopmental disorder impacting 1 in 10,000 females worldwide, making it one of the most common causes of complex disability in girls. RTT is caused by pathogenic variants in the MECP2 gene and is characterized by developmental regression, stereotypical hand movements, and an abnormal gait. Despite consistency in the presence of these core features, a wide range of features and varying severity can be observed in girls with RTT. Similarly, the particular type of MECP2 variant present also differs between patients. Previous studies have assessed correlations between genotype and phenotype in patients with RTT. While past …


Applying The Water Governance Framework On Rural Water Development Projects In Guatemala, Muhanad M. Alkharaz May 2016

Applying The Water Governance Framework On Rural Water Development Projects In Guatemala, Muhanad M. Alkharaz

Theses and Dissertations

According to the Organization for Economic Cooperation and Development (OECD), ‘Water crisis is mainly a governance crisis’, (OECD, 2013). Many water experts, as individuals, organizations and even governmental bodies have developed water governance frameworks to overcome water challenges on local, national, and international levels such as Integrated Water Resource Management. In rural areas, especially in developing countries, access to safe drinking water is a daily challenge due to a variety of political, economic, and social constraints. For in-stance, some developing countries have a strong centralized governance system. Due to lack of capacity and resources, central governments are incapable of providing …