Areas of Interest
The focus of my research is on noncoding genetic variation. I am currently working to understand the role of de novo single-nucleotide variations (SNVs) in autism spectrum disorder (ASD). By comparing noncoding regions in autistic patients to their unaffected family members, I am identifying SNVs specific to an affected individual, or de novo SNVs. By linking these to expression of nearby autism-related genes, I hope to gain insights into how regulatory mutations can lead to autism. I hypothesize that many of these de novo SNVs may interfere with normal transcription factor binding, thus disrupting regulatory function, leading in turn to improper target gene expression. Although individual de novo SNVs occur within a single patient, I hope to gain insight into broader genetic and regulatory mechanisms involved in autism by identifying recurrent patterns in de novo mutations across many affected families.
- B.S., Northeastern Illinois University (Applied Mathematics)