Dr. Richard Lifton, the Sterling Professor Genetics and Internal Medicine, was awarded the seventh annual Wiley Prize in Biomedical Sciences on February 4, 2008, for his work in identifying key genes that cause high (hypertension) and low (hypotension) blood pressure in humans.
Hypertension is the most common disease in the United States, and a major risk factor for heart disease and stroke. Lifton’s discoveries have changed the way that physicians treat blood pressure variation and identified new therapeutic targets that are expected to produce fewer side effects than current targets. He has also identified novel signaling pathways involved in the kidney’s regulation of salt balance.
By conducting genetic analyses on patients with extremely high or extremely low blood pressures from around the globe, Lifton was able to show that 16 specific genes regulate key rate-limiting steps for salt reabsorption in the kidney. These genes encode ion channels, ion channel regulators such as WNK kinases, ion cotransporters, and aldosterone synthase.
His research indicates that mutations that increase net renal salt absorption raise blood pressure, and mutations that decrease salt absorption lower blood pressure, thus suggesting that therapeutic intervention at these rate-determining steps might have the greatest impact in the general population.
Lifton stresses that this genetics approach is extremely useful for determining key pathways of complex systems and diseases such as hypertension. He explains, “Genetic approaches can settle the question of causality.”
Lifton has taken a similar approach to identify key genetic components and pathways that regulate bone density, hoping that this research will have diagnostic and therapeutic value for patients with osteoporosis.