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 December 2017*

Primary Investigator

Organization

Title of Proposal

Status

Yuri Sergeev

National Eye Institute

Molecular modeling of pathogenic mutations in nucleotide-binding domains of ABCA4 transporter protein

Ongoing

Xinjing Wang

National Eye Institute

High-throughput Genetic Variation Screening in Inherited Retinal Dystrophies

Completed

Stephen Tsang

Columbia University

Trp24Cys and Leu294Val Alleles in BEST1

Ongoing

Anna Lehman

BC Children's Hospital

NR2E1 Variants and Anterior Segment Ocular Dysgenesis

Completed

Sheldon Miller

National Eye Institute

Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Best Patients Degeneration (AMD) Patients

Paused

Radha Ayyagari

UCSD

Phenotype-Genotype analysis of patients with sequence variants in genes implicated in central vision loss. 

Completed

Radha Ayyagari

UCSD

Analysis of sequence variants in patients with ABCA4 associated retinal dystrophy phenotypes

Completed

Ian MacDonald

University of Alberta

Molecular genetics of Choroideremia

Ongoing

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Molecular genetics of OMD

Ongoing

Rui Chen

Baylor

Novel Disease Gene Cloning for Rare Human Retina Disorders

Ongoing

Debra Thompson

University of Michigan

Investigation of Novel Gene Associations in Patients with Stargardt Macular Dystrophy

Ongoing

Shunbin Xu

Wayne State University

Identification of Mutations in the miR-183/96/182 Cluster Gene Which Cause Inherited Retinal Degenerative Diseases

Ongoing

Kari Branham

University of Michigan

Knowledge, Attitudes, and Practices Among Ophthalmologists Concerning Genetic Testing

Ongoing

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

Ongoing

Johane M Robitalle

IWK Health Centre, Eye Care Team

Identification of novel genes for familial exudative vitreoretinopathy (FEVR

Ongoing

Paul Sieving, MD

National Eye Institute

A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis

Ongoing

Rabia Ozden

Applied Genetic Technologies Corporation

Informing eyeGENE participants with X-linked Retinoschisis about a gene therapy clinical trial sponsored by AGTC

Completed

Kanishka Jayasundera

University of Michigan

RetDegenDx - A Clinical Tool to Facilitate Clinical and Molecular Diagnosis of Retinal Dystrophies

Ongoing

TJHS

FCPS

Eyeognosis

Completed

Michael Gorin

UCLA

Whole Exome Sequencing of Hereditary Eye Disorders

Ongoing

Stephen Daiger

UTHSC

Identification of Novel Genes and Mutations That Cause Autosomal Retinitis Pigmentosa and Related Inherited Retinal Degenerations

Ongoing

*Studies are in order of project initiation