Abstract by Clarissa Farmer
The Gene Expression Levels of Males and Females with Genetic Diseases
Most treatments of human disease are administered to male and female patients with the assumption that they will respond the same. We analyzed 300 patients with a rare and fatal genetic disease, Transthyretin Amyloidosis. We compared genetic differences between males and females by performing statistical tests on the levels each gene was expressed for the two genders in R. We found about 5-9% of genes that were expressed differently, which is what we would expect from random chance. Now we have generalized our code to be able to compare males and females from 14 more datasets of patients with genetic diseases. We have found that Oral Squamous Cell Carcinoma, Lung cancer, and Idiopathic Pulmonary Fibrosis patients have 20-30% significant genes expressed differently. From the research we’ve done, we have found some diseases that clearly affect genders differently, while others seem to affect each gender the same. These are interesting results because these diseases are autosomal and are phenotypically the same for each gender. We hope to eventually have enough conclusive evidence to help other researchers tailor treatments of these diseases based on sex.