In 2012, Emmanuelle Charpentier and Jennifer A. Doudna earned a Nobel prize for their breakthrough discovery of one of gene technology’s sharpest tools: the CRISPR/Cas9 genetic scissors. CRISPR technology has revolutionized gene editing and has opened up many promising applications for human health. Using this technology, researchers are able to change the DNA of animals, plants, and microorganisms with extremely high precision, allowing for new cancer therapies and making possible the dream of curing inherited diseases.

Just 11 years after discovery, on December 8, 2023, the US Food and Drug Administration (FDA) granted approval for use of CRISPR in an inaugural gene-editing treatment. This groundbreaking therapy uses CRISPR to modify genes to correct a mutation in red blood cells, offering a revolutionary approach to treating sickle cell disease. In the new therapy, physicians remove a person’s own bone marrow stem cells, edit them with Casgevy, destroy the rest of the person’s untreated bone marrow and then reinfuse the edited cells, eventually repopulating the body with the corrected cells.

Progressing from the initial discovery of CRISPR, through drug development, preclinical trials, and finally clinical trials, to effective application of this therapy in humans is truly extraordinary.

The potential of gene therapy lies in providing more precise and efficient treatments, particularly for individuals with rare diseases, where current treatment options are limited. The FDA approval of the first CRISPR gene-editing treatment allows a significant advancement in addressing not only sickle cell disease, but also a broad range of genetic disorders, including, but not limited to, the treatment of the rare genetic vision disorder, Ocular Albinism (OA).

Ocular albinism is a genetic disorder characterized by vision abnormalities, inherited as an X-linked recessive genetic condition and caused by mutations in the G protein-coupled receptor 143 (GPR143) gene.

The research undertaken by The Vision of Children Foundation, directed by Dr. Debora Farber at UCLA, to uncover a treatment for Ocular Albinism achieved success using CRISPR technology. This involved the correction of the GPR143 intronic mutation in induced pluripotent stem cells from a patient with OA. The foundation intends to advance this research, and with the recent success of researchers in developing CRISPR gene therapy for sickle cell disease, there is increased optimism that the research and trials for the Ocular Albinism treatment will move successfully toward an effective genetic therapy.

Three decades ago, when Samuel and Vivian Hardage, the founders of Vision of Children, began their journey of finding a treatment for hereditary vision disorders, genetic treatments were no more than a futuristic aspiration. Now, in 2024, we’ve witnessed the FDA approval of genetic treatments as both safe and effective. Our foundation is thrilled to persist in our efforts, knowing that we stand on the brink of an effective treatment for children and adults diagnosed with Ocular Albinism and other genetic vision disorders.

Sources:

Office of the Commissioner. “FDA Approves First Gene Therapies to Treat Patients with Sickle Cell Disease.” U.S. Food and Drug Administration, FDA, 8 Dec. 2023, www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapies-treat-patients-sickle-cell-disease

Press release. NobelPrize.org. Nobel Prize Outreach AB 2024. Tue. 16 Jan 2024. https://www.nobelprize.org/prizes/chemistry/2020/press-release/

Torriano S, Baulier E, Garcia Diaz A, Corneo B, Farber DB. “CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient.” The CRISPR journal vol. 5,3 (2022): 457-471. doi:10.1089/crispr.2021.0110 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9233509/