Approved Research Studies

Over the past several decades, researchers have identified hundreds of genes that contribute to inherited eye diseases. Disease-causing mutations are associated with many ocular diseases, including glaucoma, cataracts, strabismus, corneal dystrophies and a number of retinal degenerations. This genetic information highlights the significant progress that is being made in understanding the medical basis of human ophthalmic diseases. Armed with this new knowledge, researchers and clinicians are actively developing gene-based therapies to treat ophthalmic genetic diseases that were once considered untreatable.

List of Approved eyeGENE® Stage 2 Research Studies as of July, 2017 *

Yuri Sergeev
National Eye Institute
Molecular Modeling of Pathogenic Mutations in Nucleotide-binding Domains of ABCA4 Transporter Protein

Xinjing Wang
National Eye Institute
High-throughput Genetic Variation Screening in Inherited Retinal Dystrophies

Stephen Tsang
Columbia University
Trp24Cys and Leu294Val Alleles in BEST1

Anna Lehman
British Columbia Children’s Hospital
NR2E1 Variants and Anterior Segment Ocular Dysgenesis

Sheldon Miller
National Eye Institute
Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Best Patients Degeneration (AMD) Patients

Radha Ayyagari
University of California San Diego
Phenotype-Genotype Analysis of Patients with Sequence Variants in Genes Implicated in Central Vision Loss

Ian MacDonald
University of Alberta
Molecular Genetics of Choroideremia  - Ongoing

Molecular Genetics of Occult Macular Dystrophy - Ongoing

Rui Chen
Baylor University
Novel Disease Gene Cloning for Rare Human Retina Disorders

Debra Thompson
University of Michigan
Investigation of Novel Gene Associations in Patients with Stargardt Macular Dystrophy

Shunbin Xu
Wayne State University
Identification of Mutations in the miR-183/96/182 Cluster Gene Which Causes Inherited Retinal Degenerative Diseases

Kari Branham
University of Michigan
Knowledge, Attitudes, and Practices Among Ophthalmologists Concerning Genetic Testing

Traci Clemons
The EMMES Corporation
Rhodopsin Natural History Study: Retinitis Pigmentosa Natural History Study of Patients with the P23H Mutation of the Rhodopsin (RHO) Gene

Johane M Robitalle
IWK Health Centre, Eye Care Team
Identification of Novel Genes for Familial Exudative Vitreoretinopathy (FEVR)

Paul Sieving
National Institutes of Health / National Eye Institute
A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis

Rabia Ozden
Applied Genetic Technologies Corporation
Informing eyeGENE Participants with X-linked Retinoschisis about a Gene Therapy Clinical Trial Sponsored by AGTC

Kanishka Jayasundera
University of Michigan
RetdegenDx - A Clinical Tool to Facilitate Clinical and Molecular Diagnosis of Retinal Dystrophies


*Studies are in order of project initiation