Elizabeth Worthey's Biography

Elizabeth Worthey, Assistant Professor, Medical College of Wisconsin

Dr. Worthey is an Assistant Professor in Pediatrics and a member of the Human and Molecular Genetics Center at the Medical College of Wisconsin. She is an expert in the fields of bioinformatics, genetics, and genomics, with a focus on application of genomics approaches to human health and disease. She was first author on a landmark report where next generation sequencing and analysis of a child suffering from a rare, devastating bowel disease identified a novel mutation leading to diagnosis and subsequent successful treatment. She continues to develop innovative tools and methodologies in support of clinical diagnostic and clinical research WGS; these tools are being used to uncover causative mutations and end diagnostic odysseys.