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RICHARD LIFTON

Genetics of cardiovascular and renal disease
The common human diseases that account for the vast majority of morbidity and mortality in human populations are known to have underlying inherited components. Advances in human genetics have made the identification of genetic variants contributing to these traits feasible. Such identification promises to revolutionize the diagnostic and therapeutic approaches to these disorders. We have focused on cardiovascular and renal disease. To date, we have identified mutations underlying 20 human diseases; these include a host of diseases that define inherited variation in salt handling as a major contributor to hypertension, stroke and heart attack. We have also mapped additional loci that contribute to multifactorial traits in humans. These findings are yielding new insight into normal and disease biology, are providing novel genetic tests permitting identification of individuals with specific inherited susceptibility, and are identifying new targets for development of novel therapeutics.

Selected Publications
Geller, D.S. et. al. (2000). Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 289:119-123.

Gharavi, G., et. al. (2000). IgA nephropathy, the most common form of glomerulonephritis, maps to 6q22-23. Nature Genetics 26:354-357.

Lifton, R.P., Gharavi, A., and Geller, D.S. (2001). Molecular mechanisms of human hypertension. Cell 104:545-556.

Last updated 2001