Example 5: Documenting how Genome Wide Association Study (GWAS)-discovered genetic risk shapes the development of illness and health. GWAS are turning up “hits” for many diseases, and the next step is to uncover how these genetic variants work. Some labs take the bottom-up approach, tracing pathways of gene function from the DNA up through proteins and cells, toward disease. In contrast, we take the “top-down” approach, asking how genetic variants are connected to key clinical features of the disease itself, and how disease unfolds across the life-course.
