“What is the Environment Doing to Our Genes?”: A Pedigree Analysis of the Possible Genetic Basis of a Set of Familial Clinical Disorders
The exact contribution the environment plays in human health is unknown; however, it is estimated that 24% of the global disease burden and 23% of deaths are attributed to environmental factors (Remoundou and Koundouri 2009). With the statistics from previous studies drawing attention to the impact of the environment on humans, it makes sense why the number of clinical disorders is on the rise. Many are being impacted more frequently than in previous generations by clinical disorders. This study was conducted to investigate a personal pedigree to gain insight and analysis to determine a possible connection between the environment and medical situations. It appeared that somatic mutations were forming throughout the familial pedigree and the study aimed to find a possible explanation behind the rise of clinical disorders due to those mutations. Additionally, it utilized literature review to help explain the mutations and causes behind the clinical disorders in focus as well as the causative agents that can cause these mutations. The study, through interviewing techniques, generational construction, genetic testing, and the literature review revealed overlap in clinical disorders and the environment by highlighting the causative agents that stayed constant between the personal information given and the literature found. As a result, clinical disorders need to be of focus and the preventative measure we can take to help decrease the occurrence of clinical disorders affecting family’s needs to be prevalent.
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Goodman, Emily N., "“What is the Environment Doing to Our Genes?”: A Pedigree Analysis of the Possible Genetic Basis of a Set of Familial Clinical Disorders" (2022). Honors Theses. 917.