2019 Research Updates

[Photo Description] : a black and white picture of a very geometric and modern looking building made of stone or something similar. The sky is a very dark grey. There is a blue banner with white lettering going across the entire image in the middle. The words are. “Research Updates 2019” and under it in a smaller font is the Website “www.visionofchildren.org”.

With the help of Vision of Children, Dr. Debora Farber is leading a research project designed to find a treatment for Ocular Albinism type 1 (OA1) by using two breakthrough technologies: induced pluripotent stem cells (iPSc) and CRISPR/Cas9.

Dr. Farber and Dr. Edouard Baulier, a member of her team at UCLA, collected skin cells from a person with OA1 caused by a specific mutation in the OA1 gene. The skin cells were successfully reprogrammed in-vitro into Stem Cells (iPSCs). This iPSC line is the first human model generated for studying OA1. From these iPSCs, Drs. Farber and Baulier generated Retinal Pigmented Epithelial cells (RPE cells) harboring the specific pathogenic mutation detected in the patient. These cells are suspected to be most impacted by the inactivation of the OA1 protein as a result of their mutation. By comparing the characteristics and functions of the RPE cells harboring the mutation with RPE cells obtained from healthy individuals, Dr. Farber’s team identified at least 2 pathways that seem to be modified by the OA1 disease.

Further investigation will tell if these pathways may provide possible therapeutic targets. In parallel, Dr. Farber, together with collaborators from Columbia University, are also in the process of correcting the pathogenic mutation causing OA1 in the skin cell donor, using CRISPR/Cas9 mediated gene editing.