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.