Jennifer G. Mulle, Ph.D.
Department of Human Genetics
My research program consists of dual entities: the first focuses on human genetic variation, and how it relates to risk for psychiatric disorders. We identify and characterize rare genetic variants that increase susceptibility for severe psychiatric and neurodevelopmental disorders, such as schizophrenia, bipolar disorder, intellectual disability, and autism. We use a variety of measures including DNA microarrays and next-generation sequencing strategies to find high-risk variants, including copy number variants (DNA dosage changes) and smaller mutations such as indels and point mutations. In previous work, we identified a 1.4 Mb deletion on chromosome 3q29 that confers a 40-fold increase for risk of schizophrenia. This deletion is also associated with autism, and can cause mild to moderate intellectual disability. Understanding the behavioral and biological consequences of this deletion in humans and mouse models, and identifying the altered neurodevelopmental circuitry, is central to our research program. A second focus is on the human microbiome and its association with health outcomes, including preterm birth, inflammatory bowel disease, pediatric onset rheumatoid arthritis, side effects from radiotherapy cancer treatment, and neurodevelopmental outcomes.
- View publications on Google Scholar