Recent discoveries:
- loss-of-function mutations in the gene PCSK9; individuals with loss of function mutations have very low LDL cholesterol levels and greatly reduced risk of myocardial infarction
- air quality affects health:
global positioning system (GPS) monitoring can be integrated with environmental pollutant and activity data to provide improved measures of environmental exposures - links between biomarkers and genetic variation can be used to establish causal relationships between specific metabolites and disease pathogenesis.
Diseases of high population burden that currently do not have specific predictive biomarkers include Alzheimer’s disease and type II diabetes mellitus - safety and efficacy of drugs:
provide the opportunity to comprehensively identify predictors of
individual response to therapy - Phenotypic, genotypic and environmental information collected in a standardized manner are crucial to development of endpoints
- From the prospective study of several thousand individuals, the Framingham Heart Study identified smoking, high LDL cholesterol, and high blood pressure as major independent risk factors for heart attack and stroke
Click to access pmi-working-group-report-20150917-2.pdf
