Our group studies disease mechanisms in inherited retinal degenerations (IRDs), and evaluates efficacy and safety of potential treatments. IRDs result in vision loss due to mutations in more than 200 different genes and include diagnoses such as Retinitis Pigmentosa, Stargardt Disease, Leber Congenital Amarousis, and others. There are multitudes of different pathological mechanisms resulting from different mutations. Our group uses non-invasive tests to link changes in retinal structure and function to underlying molecular pathology. We also develop and evaluate novel outcome measures for use in clinical trials.
Oct 12, 2015: Paper published in PNAS
In a recently published study, we showed gene therapy successfully stops photoreceptor cell death, improves the structure of retinal cells, and prevents vision loss for more than 2 years in a canine model for a common form of X-linked retinitis pigmentosa due to a RPGR mutation. Notably we show substantial efficacy when intervention is initiated at late stages of disease. This implies that even patients in later stages of the disease may benefit from such corrective gene therapy once it is translated to the clinic and shown to the safe.
Beltran WA, Cideciyan AV, Iwabea S, Swider M, Kosyk MS, McDaida K, Martynyuka I, Ying G-S, Shaffer J, Deng W-T, Boye SL, Lewin AS, Hauswirth WW, Jacobson SG, Aguirre GD. Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease. Proceedings of the National Academy of Sciences USA, 2015 (in press). [PubMed] [Press Release from Univ. of Pennsylvania] [Press Release from NIH] [PDF]
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