Faculty Innovators

Josephine Hoh

Tapping the Genetic Code To Predict Blindness and Other Diseases

Josephine Hoh set out to find the genes that predispose people to age-related macular degeneration, the leading cause of blindness in the elderly in the United States and an ailment that afflicts tens of millions worldwide.

The young researcher from Taiwan achieved not only that discovery but pioneered a new, more efficient way of identifying the genes involved in such diseases.

Hoh, a mathematical statistician turned genetic epidemiologist, managed to pave the way for researchers to see the value of using her visionary genome-wide association study technique for many other common diseases — hypertension, diabetes, schizophrenia and heart disease among them.

In 2005, just two years after arriving at Yale, she identified DNA variants in Complement Factor H, as well as variants in other genes as major risk factors for developing age-related macular degeneration.

Yale has filed patents on these inventions and has worked with a local entrepreneur, David Scheer, to launch Optherion, a New Haven-based biotechnology firm that seeks to develop both therapies and diagnostics for age-related macular degeneration. Hoh prefers to focus on her own research and is not involved in the management of the company.

An associate professor in the Yale School of Public Health, Hoh brings to her research not only her talents as a numbers-crunching statistician and visionary geneticist, but a never-give-up attitude. Rejected initially for funding by the National Institutes of Health — because her proposal was judged “a fishing expedition” and “over-ambitious” — she convinced the Raymond and Beverly Sackler Foundation for Arts and Sciences to support her work.

Since she and her colleagues published their groundbreaking findings in “Science” magazine in April 2005, the article has been cited by other scientists hundreds of times. The journal recognized her research as one of the top 10 scientific breakthroughs of the year.