Posted by: Katy Brown, ASHG Career and Workforce Development Coordinator
Anna Miller, BA
Ph.D. Candidate in Genetics and Genome Sciences
Case Western Reserve University
Genetic variation interacts in numerous complicated ways to impact the expression of complex traits, and yet these interactions are difficult to capture in humans because of how genetically diverse humans are. Consequently, much of what we have learned about the genetic underpinnings of human diseases is based on single locus effects, missing the richness of both additive and non-additive (i.e., epistatic) genetic interactions. In this study Anna Miller and colleagues use a new mouse model based on assessing chromosome substitution to identify these types of interactions underlying traits associated with blood, liver and metabolic function. They identify over 700 additive and 500 epistatic quantitative trait loci (QTL), and expression QTLs (eQTLs) impacting similar numbers of genes. Many of these results were not identifiable in single locus association analyses. This study highlights the importance of assessing the relationships between multiple variants in building our understanding of the biological pathways underlying human diseases and the heritability of traits.
Training & Development Committee: Could you describe your research for us?
Ms. Miller: My research interests involve detecting and understanding complex models of disease. I use computational methods to understand the genetic and epidemiological factors that associate with disease risk- particularly in understudied populations.
TDC: What are your career goals?
Ms. Miller: My career goals are a work in progress! I am currently interested in biotech and how precision medicine research can be quickly translated into accessible treatment plans.
TDC: Why did you choose genetics as your field of study?
Ms. Miller: My family saw a genetics counselor in my childhood as I have a large family history of breast and ovarian cancer. Over the years, our mutation status changed from “unknown significance” to be deemed “cancer causing”. I feel supported and empowered to receive preventative care and increased screening which drives me to increase our understanding of genetics for others.
TDC: If you could pick three words that describe yourself, what would they be?
Ms. Miller: Empathetic, Strategic, and Diligent