Distribution of Risk Alleles Across Pathways and Its Effect on Schizophrenia Outcomes




Professor of Genetics

Project Summary

This summer I worked in the Almasy Lab at the Children’s Hospital of Philadelphia to study the genetic basis of schizophrenia. Specifically, we created a new metric, called VARD, which measures the distribution of schizophrenia-associated genetic mutations across selected biological pathways. The premise is that a higher concentration of risk mutations in one pathway will do more damage than the same number of risk mutations across different pathways, as that singular pathway is completely destroyed. This new VARD variable is then compared to traditional polygenic risk scores (PRS) to estimate the genetic basis of one’s schizophrenia. This new metric acts as an additional analysis for the understanding of these genetics. Through this summer, I have learned the technical skills necessary for a career in biomedical informatics as I created and evaluated VARD through R scripting and biomaRt packages. This summer also sparked an interest to understand the statistics behind biological processes and biomedical research and to further expand our treatment of schizophrenia and other mental health issues. Because of this experience, I have made it a personal goal to explore more into the applications of this science, specifically in the start-up space. Being exposed to these technologies in an academic setting has sparked my curiosity as to how genetic analysis is used in biotech firms. As genetic engineering and other cutting-edge technologies become available, an experience like this summer will become critical in leading the market in these areas, and I hope to further expand upon this experience by continuing to work in the Almasy Lab and continuing to evaluate VARD’s validity as a genetic metric.