Hometown: Tuscaloosa, Alabama

Alma Mater: University of Alabama, Psychology

Nontraditional Approaches to Identification of Autism Genes

Autism is a lifelong pervasive developmental disorder characterized by impairments in language development, social interation and the presence of repetitive behaviors or restricted intrests. My project focuses on identification of genes that may casue autism. Autism is generally considered an oligogenic disorder, however there are a handful of families in which one key gene is disrupted resulting in the development of autism. These families are of critical importance as they highlight genes that may be involved in the pathology of the disorder. Our lab has identified three of these genes using high density microarrays that can be analyzed for copy number variations.
Copy number variations are small deletions and duplications that are generallly too small to be detected by FISH, but can result in the disruption of a gene. A Neurexin1 deletion was detected by my fellow graduate student Kacie Meyer. I recently identified a second deletion in a critcal early expressed cortical transcriotion factor and together Kacie and I identified a duplication in a third neuronally expressed cell adhesion molecule. These two genes will be reported in the literature shortly. In addition to benchwork and data analysis, I have a interest in the clinical aspects of autism. Because of this, I spend most monday mornings in the autism clinic at the UI Hospital Child and Adolescent Psychiatry Clinic becoming familiar with diagostics and treatment options. In addition our lab is involved in the autism community through outreach efforts including our recent "Autism Awareness Month - Science and Spaghetti Dinner" held for parents and individuals with autism and Asperger Syndrome during the month of April. Our lab is small but very tight. We all work on projects together and believe strongly in helping and supporting eachother.