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 Sort descending |
|---|---|---|---|---|
| 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 |