More than 50 million people worldwide are estimated to have irreversible blindness as a result of macular degeneration, making it the most common cause of blindness for those over 60. It's estimated that 30 percent of the population will have some form of AMD by the time they reach the age of seventy-five. The disease is marked by a progressive loss of central vision due to degeneration of the macula--a region of the retina and the area responsible for fine, central vision.
The study was conducted in two parts biology and genetics. Dr. Allikmets, senior author on the paper, led the genetic analysis in the study, in collaboration with principal investigator Gregory Hageman, Ph.D., professor of ophthalmology and visual sciences at the University of Iowa Roy J. and Lucille A. Carver School of Medicine, who conducted the biological research. An international team of researchers was engaged in the project including scientists at the National Cancer Institute, the National Institutes of Health (NIH), the University of California at Santa Barbara (UCSB), and Queens University, Belfast, United Kingdom.
Dr. Allikmets began his career focusing on a different disease cancer. As an investigator for the National Cancer Institute, in 1997 Allikmets discovered the ABCR gene (also known as ABCA4), as the first gene involved in a substantial, but small fraction of age-related macular degeneration. This discovery set him on the path of pursuing research in the area of AMD genetics, and he joined Columbia University Medical Center in 1999 to pursue this groundbreaking research.
The researchers examined 900 AMD patients and 400 healthy controls and noticed that half of all AMD patients have an inherited pattern of genetic variants in the Factor H gene known as a haplotype that make them more susceptible to AMD. Different haplotypes in the Facto
Contact: Craig LeMoult
Columbia University Medical Center