The 15+ years of research presented by President Berger-Sweeney on her work with Rett’s syndrome was both informative and offered insight into current areas of research. During her talk the President focused on the general information about the disease, what it is and how it affects people, as well as more specific information about what the results with a mouse model reported. The disease is classified as an Autism Spectrum Disorder (ASD). It affects young children, mostly girls, and manifests itself at around 12-18 months. The mutations occur in the MeCP2 gene, a protein that regulates the transcription of genes. The disorder differentiates itself from other neurodegenerative diseases due to what is known as the “plateau stage”, in which the regression of skills halts and there is no further regression. Later in life however, the affected individuals may re-enter a stage of motor decline later in life and develop parkinsonism-like symptoms. Due to this regression the occurs later in life the average age of a person affected with Rett’s syndrome is around 30 years-old.
President Berger-Sweeney’s talk was a great opportunity to get to know her as a researcher and for the rest of the Trinity community to see her as a neuroscientist. Moreover, it was a nice opportunity to learn about a disorder that is not often mentioned in conversation with the more notable Autism Spectrum Disorders. Ultimately, I was able to learn more about our wildly over-accomplished President, her research related passions, and what it truly means to love the work and research that you do.