July 26, 2013

Ronald Davis, Ph.D., an NEI grantee and a geneticist at Stanford University School of Medicine, has been selected to receive an award from the Warren Alpert Foundation.

Dr. Davis will share the prize with his Stanford colleague David Hogness, Ph.D., and David Botstein, Ph.D., of Princeton University. Research by the three scientists helped establish the modern era of genetics and laid the foundation for the Human Genome Project.

In the 1970s, Dr. Hogness developed a strategy for mapping a gene to its precise location on a chromosome, without knowing anything about the gene’s function. Prior to this advance, researchers had to start with proteins (which are made by genes) and work their way backward to isolate genes. His strategy was to map genes by isolating random overlapping segments of chromosome and aligning them.

Meanwhile, Drs. Davis and Botstein developed a way to link genes to traits—including diseases—without having a particular gene in mind at the outset. Instead of trying to trace the inheritance of a disease gene, they traced the inheritance of markers, or polymorphisms—which are individual differences in DNA located near a gene.

Together, these innovations have enabled researchers to map the genome (the entire set of human genes), identify thousands of disease genes, and in some cases, develop targeted therapies.

Dr. Davis is currently funded by NEI to identify genes needed in mitochondria—the energy factories inside cells. Abnormalities in these genes can lead to mitochondrial diseases, which can affect many organs and tissues in the body; common symptoms include muscle weakness and impaired vision. Dr. Davis will use a combination of unique polymorphisms and direct DNA sequencing to identify genes associated with Leber hereditary optic neuropathy (LHON), a mitochondrial disease that causes sudden vision loss, often around age 20.

The annual Warren Alpert Foundation Prize recognizes breakthroughs toward understanding and curing major diseases. This year’s recipients will share $250,000 and will be honored at a symposium on October 3, 2013, at Harvard Medical School. Congratulations to all!