Predicting Rett Syndrome : By leveraging Genetic variation and Phenotypic characteristics

Abstract

This thesis is motivated by personal experience with the author's own child, who is affected by Rett syndrome. Rett syndrome is a rare and complex neurological genetic disorder. It is typically observed in girls from birth and tends to manifest by the age of two, occurring in approximately 1 in every 10,000 to 15,000 live female births. The condition is primarily caused by mutations in the MECP2 gene, which is located on the X chromosome. Through this research, we aim to leverage genetic variation and phenotypic characteristics to predict Rett syndrome early and accurately. We will identify and analyze genetic variations, including nucleotide changes, amino acid changes, types of sequence changes, mutations/polymorphisms, and more, to understand how they contribute to the risk of developing Rett syndrome. These predictive models can assist researchers, doctors, and clinicians in identifying the risk of the condition and enhancing the quality of life for individuals with Rett syndrome.