Blindness-Causing Point Mutation in RPGR Gene Corrected in Patient’s Stem Cells Using CRISPR/Cas9 Editing Tool; Result Suggests Promise of Treating X-Linked Retinitis Pigmentosa

Using a new technology for repairing disease genes--the much-talked-about CRISPR/Cas9 gene editing tool--University of Iowa researchersnh, working together with Columbia University Medical Center (CUMC) ophthalmologists have corrected a blindness-causing gene mutation in stem cells derived from a patient. The result offers hope that eye diseases might one day be treated by personalized, precision medicine in which patients' own cells are used to grow replacement tissue. With the aim of repairing the deteriorating retina in patients with the inherited blinding disease, X-linked retinitis pigmentosa (XLRP), Alexander Bassuk, M.D., Ph.D., and Vinit Mahajan, M.D., Ph.D., led a team of researchers who generated stem cells from patient skin cells and then repaired the damaged genein a percentage of these stem cells. The CRISP/Cas9editing technique is so precise it was used to correct a single DNA base change that had damaged the RPGR gene, the gene that is mutated in XLRP. More importantly, the corrected tissue had been derived from the patient's own stem cells, and so could potentially be transplanted without the need for harmful drugs to prevent tissue rejection. The new research was published online on January 27, 2016 in an open-access article in Scientific Reports. The article is titled “Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells.” "With CRISPR gene editing of human stem cells, we can theoretically transplant healthy new cells that come from the patient after having fixed their specific gene mutation,” says Dr. Mahajan, Clinical Assistant Professor of Ophthalmology and Visual Sciences in the University of Iowa Carver College of Medicine.
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