AREDS2 Frequently Asked Questions
Overview and Phenotype Information
Privacy and Investigator and AREDS2 Participant Rights
Overview and Phenotype Information
The NEI-AREDS2 Genetic Repository is a collection of genetic material submitted by participants in the Age-Related Eye Disease Study 2 (AREDS2) which was sponsored by the National Eye Institute (NEI). The Repository stores DNA for use by investigators conducting genetics research into the causes of eye disease.
Yes. Because the DNA available for AREDS2 is not replenishable, approval of your request from the NEI is required
No, the AREDS2 study did not have a final AMD phenotype for each participant as had been done for the AREDS study. While AMD Severity Scale is provided, it is only intended to be used for sample selection not for use in analysis of results. AMD Severity Scale was not used by the AREDS2 Research Group for their analyses. Central GA, any GA and NV AMD values over time from the fundus grading datasets (AREDS2_RCA and AREDS2_RCF) should be used and are available in the AREDS2 database of Genotype and Phenotype (see below).
Yes. Additional phenotypic information for AREDS2 participants is available in the database of Genotype and Phenotype (dbGaP) here through the National Center for Biotechnology Information (NCBI). To apply for access to these data,go here.
Some participants only consented to have their genetic specimen used for eye disease research. This means that samples from those participants should only be used for eye disease research. Specimens from participants who consented to 'General Research Use' can be used for any type of scientific research.
The 'dbGaP Subject ID' referred to in the AREDS2 Repository dataset is the subject ID that was submitted to the dbGaP when the data were provided to them by the NEI. However, the NCBI refers to this ID as the 'Submitter Subject ID' in the dbGaP datasets. After receiving the data from the NEI, the NCBI assigned its own internal subject ID to each participant which they refer to as the 'dbGaP Subject ID'; this allows data from the same participant in different studies in the dbGaP to be linked together.
You may order 1 tube of DNA from the same specimen or participant per order.
Privacy and Investigator and AREDS Participant Rights
The NEI-AREDS2 Genetic Repository is a collection of genetic material submitted by participants in the Age-Related Eye Disease Study 2 (AREDS2) which was sponsored by the National Eye Institute (NEI). The Repository stores DNA for use by investigators conducting genetics research into the causes of eye disease. Identifiable information is not used or retained by Coriell Repositories for any samples distributed. Some participant identification, such as age, gender, and race, will be made available to the Repository and researchers; however, these data will not be traceable to any individuals and will be HIPAA compliant.
The Privacy Rule is a federal regulation under the Health Insurance Portability and Accountability Act (HIPAA) of 1996 that governs the protection of individually identifiable health information. The Repository does not accept or store any personally identifying information on samples, and therefore, investigators ordering samples are HIPAA compliant during repository usage. Note that Coriell and the NEI-AREDS Repository are not covered entities, and therefore, are not subject to HIPAA regulations.
Matthew W. Mitchell, Ph.D. - Principal Investigator
email: mmitchell@coriell.org
phone: 856-412-6999
Emily Y. Chew, M.D. - Senior Investigator
NEI, NIH
Abby Amberson - Project Manager
Email: aamberson@coriell.org
Phone: 856-966-5062
Thomas Cutts - Project Manager
Email: tcutts@coriell.org
Phone: 856-757-3805
