May 25, 2007

Lecturer details genetics’ past, present and future

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Vanderbilt’s Charles Hong, M.D., Ph.D., left, talks with Richard Lifton, M.D.,Ph.D., who delivered last week’s Discovery Lecture. Hong was a student of Lifton's at Yale University. (photo by Anne Rayner)

Lecturer details genetics’ past, present and future

Outward appearances often belie a person's susceptibility to disease.

Case in point: Jimmy Fixx, a marathon runner and the picture of physical fitness, died of a heart attack while jogging at age 52. In contrast, Winston Churchill, a professed “glutton” with a fondness for liquor and fine cigars, lived to the ripe age of 90.

At last week's Discovery Lecture, Richard Lifton, M.D., Ph.D., the Sterling Professor of Genetics at Yale University School of Medicine, used this example to demonstrate the powerful impact of genetic susceptibility on common conditions like heart disease and high blood pressure. In his talk entitled “Genetics, Genomic and the Future of Medicine,” Lifton offered his perspective on “where we've been in genetics…and where we are headed.”

In the past, genetics has been great at identifying mutations underlying Mendelian traits, or traits caused by mutations in a single gene, Lifton said. But common, complex diseases may involve numerous genes, making it much harder to pin down their genetic roots.

However, key advances have been made by using rare diseases to illuminate the genetic contributors to common conditions like high blood pressure (hypertension), he noted.

“While hypertension affects approximately 1 billion people worldwide, the pathogenesis remains unknown and the treatment is suboptimal,” Lifton said.

By focusing on people at the extreme ends of the blood pressure spectrum — both extremely high and extremely low blood pressure — Lifton and colleagues have identified several genes involved in blood pressure regulation.

Interestingly, he noted, “all of the genes we found converge on one pathway, which regulates renal salt homeostasis.”

In addition to confirming that mutations that increase salt balance raise blood pressure, the genes Lifton and colleagues have identified may provide new targets for the development of therapeutic agents.

Lifton foresees a bright future for genetics in identifying new pathways that underlie disease, suggesting that perhaps one day genetic and genomic information can be compiled into a type of genetic “periodic table.”

Lifton is chair of the Department of Genetics, professor of Medicine, and Molecular Biophysics & Biochemistry, director of the Yale Center for Human Genetics and Genomics, and director of the Yale Specialized Center of Research in Hypertension at Yale.

He is also an investigator for the Howard Hughes Medical Institute and a member of the National Academy of Sciences and the Institute of Medicine.

For a complete schedule of the Discovery Lecture Series and archived video of previous lectures, go to