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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 Initiation Date
Kavya Kopparapu Thomas Jefferson High School - FCPS Eyeognosis Completed
Stephen Tsang Columbia University qAF and OCTA imaging of CHM-Rep1, CNGB3, CNGA3, RS1, RPGR, and RHO patients Ongoing
Sheldon Miller (retired); Kapil Bharti National Eye Institute Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Best Patients Degeneration (AMD) Patients Ongoing
Anne Slavotenik Cincinnatti Children's Hospital (formerly UCSF) Whole genome sequencing in eyeGene patients with microphthalmia, anophthalmia and coloboma Ongoing
Yuri Sergeev National Eye Institute Molecular modeling of pathogenic mutations in nucleotide-binding domains of ABCA4 transporter protein Ongoing
Anna Lehman BC Children's Hospital NR2E1 Variants and Anterior Segment Ocular Dysgenesis Completed
Ian MacDonald University of Alberta Molecular genetics of Choroideremia Completed
Debra Thompson University of Michigan Investigation of Novel Gene Associations in Patients with Stargardt Macular Dystrophy 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 Completed
Rabia Ozden Applied Genetic Technologies Corporation Informing eyeGENE participants with X-linked Retinoschisis about a gene therapy clinical trial sponsored by AGTC Completed
Michael Gorin UCLA Whole Exome Sequencing of Hereditary Eye Disorders Ongoing
Aristomenis Thanos Legacy Emanuel Hospital and Health Center Phenotype - genotype correlations of patients with exudative vitreoretinopathies and Wnt-signaling mutations Completed
Brett Jeffrey National Eye Institute An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4 Ongoing
Brian Brooks National Eye Institute An Open-Label Treatment Trial of Oral Metformin to Slow Progression of ABCA4 Retinopathy Ongoing
Xinjing Wang National Eye Institute High-throughput Genetic Variation Screening in Inherited Retinal Dystrophies Completed
Radha Ayyagari UCSD Phenotype-Genotype analysis of patients with sequence variants in genes implicated in central vision loss. Completed
Ian MacDonald University of Alberta Molecular genetics of Occult Macular Dystrophy Completed
Shunbin Xu Wayne State University Identification of Mutations in the miR-183/96/182 Cluster Gene Which Cause Inherited Retinal Degenerative Diseases Ongoing
Johane M Robitalle IWK Health Centre, Eye Care Team Identification of novel genes for familial exudative vitreoretinopathy (FEVR) Ongoing
Kanishka Jayasundera University of Michigan RetDegenDx - A Clinical Tool to Facilitate Clinical and Molecular Diagnosis of Retinal Dystrophies Ongoing
Stephen Daiger UTHSC Identification of Novel Genes and Mutations That Cause Autosomal Retinitis Pigmentosa and Related Inherited Retinal Degenerations Completed
Robert Hufnagel National Eye Institute Variant and gene-level characterization in the ocular disease population Ongoing
David Osei-Hwedieh University of Pittsburgh Investigating genetic similarities in Retinoblastoma and Osteosarcoma Ongoing
Stephen Tsang Columbia University Trp24Cys and Leu294Val Alleles in BEST1 Completed
Radha Ayyagari UCSD Analysis of sequence variants in patients with ABCA4 associated retinal dystrophy phenotypes Completed
Rui Chen Baylor Novel Disease Gene Cloning for Rare Human Retina Disorders Ongoing
Kari Branham University of Michigan Knowledge, Attitudes, and Practices Among Ophthalmologists Concerning Genetic Testing Completed
Paul Sieving, MD National Eye Institute A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis Ongoing
Ameri Hossein USC Roski Eye Institute Autofluorescence and Vascular Diameter Correlation with Genotype in Retinitis Pigmentosa Completed
Karen McAulay Reprocell Europe, Ltd Generation of Induced Pluripotent Stem Cell Lines to Test Novel Compounds for the Treatement of Disease – Retinal Dystrophies Completed
Donald Miller Indiana University AO-OCT in RP patients Completed