Population Genetics and Pharmacogenomics

These important findings have set the stage for identification of novel, disease-causing genes, and patterns in DNA sequence that predict positive and adverse responses to medications. Among others, Dr. Eli Sprecher, Professor Hanna Mundel, Professor Ruth Gershoni and colleagues have mapped and identified mutations that open up new pathways for understanding disease pathogenesis and therapy.

For example, the discovery that carriers of the rare Gaucher mutation have markedly increased susceptibility to Parkinson’s disease, is now leading to new molecular approaches for understanding the pathogenesis of neurodegenerative processes. Thus, molecular biologists and clinicians at Rambam are working towards a paradigm for DNA-sequence based “tailored” or ”personalized” medication prescription, to replace the existing practice of  “trial and error” therapy. This personalized approach extends beyond the scientific realm and includes a deep understanding of the importance of social and environmental influences in shaping individual human health.