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
 Completed


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
 Completed


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
Investigation of Novel Gene Associations in Patients with Stargardt Macular Dystrophy
 Ongoing