Develop and de-risk new therapeutic avenues to treat serious,
complex human disease by understanding the biological mechanisms.
Further, his group pioneered expression quantitative trait locus (eQTL) studies, which enabled variation in global gene expression to be applied to genetics
of complex human diseases.
«This Prize also validates the fundamental importance of how basic biological research can inform about the origins of
complex human disease.»
The Consortium has undertaken three experiments so far: genome wide association studies of seven
complex human diseases of major public health importance such as bipolar disorder (BD), coronary artery disease (CAD) and Crohn's disease (CD), a genome wide study for tuberculosis, and an association study for breast cancer, multiple sclerosis, ankylosing spondylitis, and autoimmune thyroid disease.
The medical research focuses on investigating the molecular basis of
complex human diseases, and seeks to find biomarkers that can help diagnose diseases and monitor their progress.
Itamar Harel, a postdoc at Stanford University, for example, is using CRISPR to study aging and its role in a range of
complex human diseases, using the African turquoise killifish.