Josephine Hoh, PhD

Josephine Hoh, associate professor in chronic disease epidemiology and of ophthalmology and visual science, is currently involved in interdisciplinary research to elucidate disease pathophysiology, including how the genetic factors can actually lead individuals who carrying the risk variants to be ill at one point in life, what the environmental exposures are, and how they can influence an individual’s chance of contracting the disease.

Dr. Hoh was trained in mathematics in Taiwan and theoretical statistics and probability under the supervision of Professor Zhiliang Ying and the late Professor Herbert Robbins at Rutgers University.

As a research assistant professor at Rockefeller University she worked with Jurg Ott on linkage analysis for genetic factors of human disease and developed her expertise in biology. Two of the computational methods and tools they developed, SUMSTAT and p53MH, continue to be widely used. SUMSTAT can efficiently and effectively identify disease associated genetic variants, while p53MH and its extension can identify the DNA response elements of a tumor suppressor p53 as well as other transcription factors.

Now an associate professor at the Yale School of Public Health, Hoh focuses on developing new approaches to discover the genetic risks for more common diseases which usually have complex influences from both genetics and environmental exposures. Collaborating with national and international groups (Drs. Emily Chew and Rick Ferris at the National Eye Institute and Dr. Calvin Pang of Hong Kong University) her work on age-related macular degeneration (AMD), the most common cause of blindness in developed world, led to the first successful application of the genome-wide association study (GWAS) approach and was published widely. By employing GWAS, the Hoh lab has also investigated other complex traits including carcinoid cancer, scleroderma, asthma, longevity, among others.