This paper in PNAS by William A. Beltran, Artur V. Cideciyan, Alfred S. Lewin, Simone Iwabe, Hemant Khanna, Alexander Sumaroka, Vince A. Chiodo, Diego S. Fajardo, Alejandro J. Román, Wen-Tao Deng, Malgorzata Swider, Tomas S. Alemán, Sanford L. Boye, Sem Genini, Anand Swaroop, William W. Hauswirth, Samuel G. Jacobson and Gustavo D. Aguirre is a continuation of their work in retinal degeneration, this form of retinal degeneration, X-linked retinitis pigmentosa (RP).
Continue reading “Notable Paper: Gene Therapy Rescues Photoreceptor Blindness in Dogs and Paves The Way for Treating Human X-linked Retinitis Pigmentosa”
Hereditary retinal dystrophies (retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophies, macular degeneration) are characterized by loss of visual function, sometimes starting during early childhood, other times in late adulthood. About 30% of these dystrophies are inherited in an autosomal dominant fashion (RetNet), caused by gain-of-function mutant alleles which encode a malignant form of a normal protein. Continue reading “Notable Paper: Long-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse model”
This truly groundbreaking paper by M Mehdi Doroudchi, Kenneth P Greenberg, Jianwen Liu, Kimberly A Silka, Edward S Boyden, Jennifer A Lockridge, A Cyrus Arman, Ramesh Janani, Shannon E Boye, Sanford L Boye, Gabriel M Gordon, Benjamin C Matteo, Alapakkam P Sampath, William W Hauswirth and Alan Horsager demonstrates that channelrhodopsin-2, a cation channel from algae than can be gated/activated by light can restore both physiological and behavioral visual responses in mice with retinal degenerative disease.
Continue reading “Notable Paper: Virally Delivered Channelrhodopsin-2 Safely and Effectively Restores Visual Function in Multiple Mouse Models of Blindness”