Research using eyeGENE

List of Approved eyeGENE© Stage 2 Research Studies as of February 2015

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
Ongoing


Stephen Tsang
Columbia University
Trp24Cys and Leu294Val Alleles in BEST1
Ongoing


Anna Lehman
British Columbia 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
Ongoing


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


Ian MacDonald
University of Alberta
Molecular Genetics of Choroideremia
Ongoing


Rui Chen
Baylor University
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 Causes Inherited Retinal Degenerative Diseases
Ongoing


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


Last Reviewed: 
May 2015