Integrative Molecular Phenotyping

What is health? Despite our best efforts, biomedical science has failed to provide a concrete definition. It is clear that health is more than simply “free from disease” as defined by Webster’s Dictionary. The World Health Organization defines health as “a state of complete physical, mental, and social well-being and not merely the absence of disease or infirmity”. However, traditional biomedicine focuses on identifying pathways and mechanisms associated with disease symptoms, not on understanding the processes that keep us healthy. It is not possible to understand deviations from health, whether disease-, environment-, or therapeutic-induced, without first establishing a baseline and definition of health. Disease can be defined as a shift from health in the sense that the system has been perturbed to the extent that the range of the dynamic equilibrium has been exceeded. Essentially, the natural buffering capacity of the healthy system has been saturated, and the organism responds with the manifestation of disease. Intervention then becomes a process of restoring the individual to equilibrium. This process can vary depending upon an individual’s personal biochemical profile, leading to the concept of “personalized medicine” to develop a specific response. Initial studies have involved collection of large data structures consisting of thousands of data points from disparate analytical platforms towards the goal of addressing the fundamental question of maintaining health.

The field of systems biology has developed to address research questions of this magnitude. Our vision is to provide a quantitative definition of health and the associated deviations due to disease or environmental stress. Accordingly, research efforts in our group center upon developing the necessary analytical and informatics platforms to quantify a healthy phenotype.