BEGIN:VCALENDAR VERSION:2.0 PRODID:researchseminars.org CALSCALE:GREGORIAN X-WR-CALNAME:researchseminars.org BEGIN:VEVENT SUMMARY:Prof. Dr. Constance Cepko (Harvard Stem Cell Institute) DTSTART:20230329T103000Z DTEND:20230329T113000Z DTSTAMP:20260423T024750Z UID:MCB_LUMS/33 DESCRIPTION:Title: Gene Therapy to Prolong Vision\nby Prof. Dr. Constance Cepko (Harvar d Stem Cell Institute) as part of Colloquium zooming Molecular & Cellular Biology LUMS\n\n\nAbstract\nThere are >200 human disease genes leading to blindness. Although gene therapy in which each disease gene is augmented o r edited is possible\, this approach would be extremely expensive and logi stically challenging. To provide an alternative\, more general approach\, our laboratory has been analyzing mouse models of blindness\, looking for problems that are common across genotypes. We were particularly interested in mouse models for retinitis pigmentosa (RP)\, as it is well modeled in mice\, relative to humans. In RP\, the disease starts with the expression of mutant genes in rod photoreceptors\, the cell type that initiates dim l ight vision\, leading to poor night vision. However\, color vision\, which originates with cone photoreceptors\, is normal at birth. Over time\, con es become affected due to bystander effects from rod loss. This causes col or blindness and can lead to total blindness. Other cells also are affecte d by the loss of rods: the retinal pigmented epithelial cells (RPE)\, whic h provide various types of support to rods and cones. Studies of these mou se models led to the hypothesis that the bystander effects include: oxidat ive damage\, metabolic shortcomings\, and inflammation. To combat these pr oblems\, many different types of genes were delivered using adeno-associat ed viruses (AAV). Genes that fight inflammation\, a transcription factor t hat regulates genes that fight oxidative damage\, and genes that provide m etabolic support were found to prolong cone and RPE survival as well as vi sion across 3 strains of RP mice.\n LOCATION:https://researchseminars.org/talk/MCB_LUMS/33/ END:VEVENT END:VCALENDAR