Condition: Healthy · Sponsor: Scripps Translational Science Institute
With the completion of the human genome project, investigators can now explore new questions in human biology. Previously human genetics focused on highly penetrant, Mendelian traits; however, now rare and common variants can be discovered that affect "common" diseases that have multi-gene architecture with variable penetrance such as breast cancer, diabetes mellitus, and coronary artery disease. This change took place because investigators now have the tools to illuminate the whole genome at once to discover the genetic variants responsible for different disease phenotypes through statistical differences between populations. Besides disease phenotypes, health can be considered a human phenotype that can be studied. Health is not merely the absence of disease but may be viewed as a dynamic ongoing interplay between the environment and the genome to maintain homeostasis. Individuals often attempt to optimize environmental conditions according to ones genome to maximize their health. All individuals possess potentially beneficial and harmful variants depending on the environment. How this dynamic interplay occurs between the genome and environment requires understanding the boundary conditions of the genetic architecture of health and disease and then modeling the system to simulate the observed data. The aging process also affects health. Aging involves a loss of the normal coping responses to internal and external environmental stressors or signals. Investigators now have th…
This description comes directly from the study's public registry record.
Sarah Topol, BS · 858-784-2155 · topol.sarah@scrippshealth.org
Emily Spencer, PhD · 858-784-2029 · egspence@scripps.edu
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Source record: clinicaltrials.gov/study/NCT01004133