Elizabeth Blue’s lab incorporates tools from population genetics and genetic epidemiology to detect regions of the genome influencing disease. The long-term research goals are to identify variants influencing disease within and between human populations, as well as to predict and evaluate their functions.
Blue is interested in the biology differentiating the genetic underpinnings of Mendelian disorders (single gene, high penetrance) from complex traits influenced by many genetic and environmental factors (ex., Alzheimer’s disease, cardiovascular disease), and how genetic modifiers fit within that spectrum.
She has expanded upon her lab’s initial research focus on genetic modifiers of disease risk through collaboration, including the Alzheimer’s Disease Sequencing Project (ADSP), University of Washington Center for Mendelian Genomics (UW-CMG), and Pacific Northwest Undiagnosed Disease Network (PNW-UDN). These collaborations allow Blue to study the full spectrum of genetic diseases from Mendelian disorders to complex traits.
- Variants influencing disease within and between human populations
- Genetic underpinnings of Mendelian disorders
- Genetic modifiers of disease risk
- Pathogenic genetic variants associated with Alzheimer’s disease