National Eye Institute
More than 72,000 clinical photographs illustrate age-related eye disease
progression
The National Institutes of Health has expanded a genetic and clinical
research database to give researchers access to the first digital study
images. The National Eye Institute (NEI), in collaboration with the National
Center for Biotechnology Information (NCBI), has made available more
than 72,000 lens photographs and fundus photographs of the back of the
eye, collected from the participants of the Age-Related Eye Disease Study
(AREDS).
These images are now accessible to scientists through NCBI's online
database of Genotypes and Phenotypes, known as dbGaP, which archives
data from studies that explore the relationship between genetic variations
(genotype) and observable traits (phenotype). Though study descriptions
and protocols are publicly accessible, researchers must apply for controlled
access to de-identified information about study subjects, including the
new images.
"The availability of AREDS images through dbGaP may transform the
way we conduct vision research," said NEI director Paul A. Sieving,
M.D., Ph.D. "Scientists can increase their understanding of the
impact of genetics and gene-environment interactions on blinding eye
disease progression, which could aid in diagnosis and in developing effective
treatments."
The NEI-supported AREDS was one of two studies included in the December
2006 launch of dbGaP. The first version of controlled-access AREDS information
was made available in 2007, including data gathered from genome-wide
scans of DNA samples from 600 study participants. The database was updated
in November 2008 to include clinical trial and natural history information
from the 4,757 total AREDS participants over 10 years. The latest addition
to the AREDS dataset includes more than 72,000 lens and fundus photographs
from 595 study participants with genome-wide scan data available.
"The National Center for Biotechnology Information is very pleased
to be involved in this effort to provide researchers with access to the
images from AREDS," said NCBI director David Lipman, M.D. "Linking
individual study subjects’ eye photographs with their phenotype and genotype
data provides a valuable new dimension of information for researchers
to explore in attempting to understand age-related eye disease."
AREDS began in 1992 as a multi-center, prospective study designed to
evaluate the progression of age-related macular degeneration and age-related
cataract. Participants, who were age 55 to 80 when the study started,
also enrolled in a clinical trial of high-dose vitamin and mineral supplements.
They were followed for a median of 6.5 years during the trial and five
years after the study ended. Beginning in 1998, DNA was also isolated
from blood samples obtained from more than 3,700 AREDS participants.
"AREDS has been the main focus of the translational research program
at NEI for a number of years," said NEI clinical director Frederick
L. Ferris III, M.D. "This new group of lens and fundus images from
well-described study participants provides a new opportunity for vision
research, and is a valuable resource for clinical teaching and training
as well."
Open-access AREDS data and a link to apply for controlled access to
individual-level data, including the new images, can be found on the
NEI-AREDS study page at http://www.ncbi.nlm.nih.gov/gap.
NCBI creates public databases in molecular biology, conducts research
in computational biology, develops software tools for analyzing molecular
and genomic data, and disseminates biomedical information, all for the
better understanding of processes affecting human health and disease.
NCBI (http://www.ncbi.nlm.nih.gov)
is a division of the National Library of Medicine (http://www.nlm.nih.gov),
the world's largest library of the health sciences.
The National Eye Institute, part of the National Institutes of Health,
leads the federal government’s research on the visual system and eye
diseases. NEI supports basic and clinical science programs that result
in the development of sight-saving treatments. For more information,
visit http://www.nei.nih.gov.
The National Institutes of Health (NIH) — The Nation's Medical
Research Agency — includes 27 Institutes and Centers and is
a component of the U.S. Department of Health and Human Services. It is
the primary federal agency for conducting and supporting basic, clinical
and translational medical research, and it investigates the causes, treatments,
and cures for both common and rare diseases. For more information about
NIH and its programs, visit www.nih.gov.