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Genetic Resources and Information for Vision Researchers

A database of eye libraries and genes and proteins expressed in the eye and visual system maintained by the National Eye Institute (NEI).

For information, see http://www.nei.nih.gov/intramural/core_facilities/nei_bank.

Center for Inherited Disease Research (CIDR)
Genotyping and statistical genetics consultation services for investigators seeking to identify genes that contribute to human disease. NEI is one of twelve Institutes at the National Institutes of Health (NIH) that support the center.

Applications to utilize the genotyping and sequencing resources of CIDR may be made through an X01 application, http://grants.nih.gov/grants/guide/pa-files/PAR-11-210.html.

Applications for whole exome and custom-targeted sequencing projects are also now available. Information about these services can be found at http://www.cidr.jhmi.edu under Next Generation Sequencing.

Knockout Mice with Phenotypic Data
The NIH has contracted with Deltagen Inc. and Lexicon Genetics Incorporated to provide the research community with access to approximately 250 lines of knockout mice which have been extensively characterized. Investigators who receive the knockout mice lines are free to publish any results from research involving the lines and also to seek patent or other intellectual property protection for any inventions and/or discoveries resulting from such research.

Mutant Mice
The NIH has funded the isolation of mouse lines with selected genetic mutations affecting nervous system function and behavior. These are available through the Northwestern University Neurogenomics Project, the Tennessee Mouse Genome Consortium, and the Neuroscience Mutagenesis Facility at the Jackson Laboratories.

Budgeting for the Purchase of Genomic Arrays
This notice addresses the application of cost principles and reimbursement policy for high-throughput biomedical research under grant and contracts which require the purchase of the supply identified as Genomic Arrays.

Database of Genotype and Phenotype (dbGaP)
All investigators who receive NIH funding to conduct genome-wide analyses of genetic variation are expected to make their data available for secondary research. A new online system has been developed in order to reduce the burden of registering studies and requesting access to data in dbGaP. See http://grants.nih.gov/grants/guide/notice-files/NOT-OD-14-065.html.

NIH Policy for Enhancing the Science, Safety, and Ethics of Recombinant DNA Research
The NIH policy can be found at http://grants.nih.gov/grants/guide/notice-files/NOT-OD-07-096.html.

The PhenX Toolkit
The National Human Genome Research Institute and the Office of Behavioral and Social Sciences Research developed an administrative supplement program to promote the inclusion of standard phenotypic and environmental exposure measures into existing NIH-supported population-based genomic studies. Information regarding these funds is available at www.phenxtoolkit.org and http://grants.nih.gov/grants/guide/notice-files/NOT-HG-11-009.html.

Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS)
This document address data sharing procedures, data access principles, intellectual property, and issues regarding the protection of research participants through all phases of GWAS. See http://grants.nih.gov/grants/guide/notice-pfiles/NOT-OD-07-088.html and http://grants.nih.gov/grants/guide/notice-files/NOT-OD-08-013.html.

The Fuchs Endothelial Corneal Dystrophy (FECD) Consortium
This is an NEI-funded consortium of three extramural sites studying the genetic architecture of this condition. For additional details, click here.

The NEIGHBOR Consortium (NEI Glaucoma Human Genetics Collaboration)
The NEIGHBOR (NEI Glaucoma Human genetics collaBORation) consortium is an NEI-funded collaborative effort involving 22 investigators at 12 institutions in the United States. The goal of the consortium is to identify genetic variants associated with primary open angle glaucoma (POAG) and normal pressure glaucoma (NPG), as well as elucidating the molecular pathogenesis of POAG. These accomplishments would make it possible to implement effective screening and prevention strategies and to develop novel therapies. For additional details, click here.

NEIGHBORHOOD (NEIGHBOR Heritable Overall Operational Database)

Primary Open Angle Glaucoma (POAG) and normal pressure glaucoma (NPG) genome-wide association studies, including the NEIGHBOR/GLAUGEN study, have identified five genes/loci that are statistically associated with the disease: CDKN2BAS (POAG and NPG); 8q22 (NTG); SIX1/SIX6 (POAG); TMCO1 (POAG), and CAV1/CAV2 (POAG). While these results are encouraging they also suggest that large datasets with rich clinical data are needed to fully delineate the genetic architecture of POAG.

Therefore, the goals of the NEIGHBORHOOD are to:

  1. expand the NEIGHBOR and GLAUGEN consortia to create the NEIGHBORHOOD (NEIGHBOR Heritable Overall Operational Database) consortium and database. This will include harmonized genotype and phenotype data for a total of 4,652 POAG cases, 16,909 subjects with optic nerve cup-to-disc ratio (CDR) measurements and 42,486 controls; and,
  2. use this enhanced dataset to perform meta-analyses to identify novel genes influencing CDR, as well as genes that contribute to POAG.

Two genes associated with POAG (CDKN2BAS and SIX1/SIX6) were initially identified as determinants of CDR. New datasets to be contributed to form the NEIGHBORHOOD include cases and controls from the Nurses Health Study and Health Professionals Follow-up Study, the Women’s Genome Health Study, the Mayo Clinic, the Marshfield Clinic and the University of Iowa Ophthalmology clinics. The database will be augmented to include additional existing phenotype data for the current NEIGHBOR and GLAUGEN cases and controls.

Specific analyses planned for the NEIGHBORHOOD include: 1) Case control association study using POAG case definition, and case control association study using CDR >0.8 as the case definition; 2) Genome partitioning to assess heritability of CDR phenotypic variance, and 3) continuous trait analysis of CDR. In addition, the NEIGHBORHOOD will create a rich resource for future studies of other POAG related traits as well as gene-gene and gene-environment interactions.

NEIGHBORHOOD participating investigators are: Rand Allingham, MD (Duke); Allison Ashley-Koch, PhD (Duke); Donald Budenz, MD, MPH(North Carolina); Murray Brilliant, PhD (Marshfield); William Christen, PhD (Harvard/Brigham Hospital); John Fingert, MD, PhD (Iowa); David Friedman, MD, MPH, PhD (Johns Hopkins); Jae Hee Kang, PhD (Harvard/Brigham Hospital/Channing Lab); Douglas Gaasterland MD (Eye Doctors of Washington DC); Theresa Gaasterland, PhD (Scripps Institute); Jonathan Haines, PhD (Vanderbilt); Michael Hauser, PhD (Duke); Richard Lee, MD (Miami); Paul Lichter, MD (Michigan); Shannath Merbs, MD, PhD (Johns Hopkins); Sayoko Moroi, MD (Michigan); Louis Pasquale, MD (Harvard/Mass Eye and Ear Infirmary); Margaret Pericak-Vance, PhD (Miami); Anthony Realini, MD (West Virginia); Julia Richards, PhD (Michigan); Joel Schuman, MD (Pittsburgh); Kuldev Singh, MD (Stanford); Arthur Sit, MD (Mayo Clinic); Douglas Vollrath, PhD (Stanford); Robert Weinreb, MD (UCSD); Janey Wiggs, MD, PhD (Harvard/Mass Eye and Ear Infirmary); Gadi Wollstein (Pittsburgh); and Kang Zhang, MD, PhD (UCSD).

Last Updated: June 2014