Over the past two decades, VOC sponsored researchers have:
Identified the gene mutation responsible for ocular albinism type 1 (OA1), an X-linked recessive disorder in which the retinal pigment epithelium lacks pigment, while the hair and skin appear normal.
Developed the first genetic test for OA, allowing for prenatal diagnosis and carrier screening.
Created an OA1 mouse model with many characteristics similar to those in human OA1.
Determined the biochemical features of the OA1 protein and its involvement in melanogenesis (the production of melanin, which gives color to skin, hair and the iris).
Studied the use of stem cells to regenerate damaged eye tissue in mice.
Demonstrated the efficacy of gene therapy for inherited eye diseases.