Research using eyeGENE®
List of Approved eyeGENE® Stage 2 Research Studies as of 2-12-2013
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
BC Children's Hospital
NR2E1 Variants and Anterior Segment Ocular Dysgenesis
Finished
Sheldon Miller
National Eye Institute
Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Best PatientsDegeneration (AMD) Patients
Ongoing
Radha Ayyagari
UCSD
Phenotype-Genotype analysis of patients with sequence variants in genes implicated in central vision loss.
Ongoing
Radha Ayyagari
UCSD
Analysis of sequence variants in patients with ABCA4 associated retinal dystrophy phenotypes
Ongoing
Ian MacDonald
University of Alberta
Molecular genetics of choroideremia
Ongoing
Rui Chen
Baylor Univeristy
Novel Disease Gene Cloning for Rare Human Retina Disorders
Ongoing
Debra Thompson
University of Michigan
nvestigation of Novel Gene Associations in Patients with Stargardt Macular Dystrophy
Ongoing
