 Hi, this is Vikash Patnaik. I'm here at the University of Wisconsin in the Department of Pediatrics. I'd like to introduce you to our new paper in human mutation. Hello, I'm Seenu. I'm a postdoc in Dr. Pekar's lab. Hi, I'm Paun Sahi. I'm a postdoctoral fellow in the Department of Pediatrics UW Medicine. Hello, my name is Nathaniel York and I'm a graduate student in Dr. Patnaik's lab. So I'd like to introduce to this paper Novel KC and the 13 Nonsense Mutation and Loss of Care 7.1 Function, which cause a pediatric inherited blindness, labors, congenital amurasis. The other collaborators who have contributed to this work are Dr. D. N. Pillars from UW Medicine, Pediatrics Department. We had also two clinical partners. One is at the KC Eye Institute for Genetic Screening, and both Megan Marino and Dr. Tablesi at Kohl Eye Institute at the Cleveland Clinic. So this work is on labors congenital amurasis, which is a disease with profound visual loss at or near birth. And about 17 genes are regularly screened for this disease. And when a 10-year-old boy who complained about his vision and his blood samples was sent out for genetic screening and his retina images were taken, you can see in the paper that his retina looked abnormal with abnormal angiogenesis and also pigmentation in the macular. So using next generation sequencing methods on patient whole blood samples, we determined the patient's genotype and observed a mutation in the TGG to the stock code on TAG. And this is in KR 7.1, which is a protein that's localized to the apical projections of the RPE. As we can see here with the RPE stained in red and the KR 7.1 channel stained in green. And we have performed the whole cell path clamping on the cells which has been like transfected with these mutations and it's also been fused with the GFP so that it is easily detected. And when we compared with the wild type that's in the black trace, the mutant one in the red trace doesn't have any current. So you can compare with the non-transfected cells, it's more or less like a non-transfected cells. So it signifies that the mutant is non-functional. So we have also confirmed this using the activator as well as the inhibitor. So to inhibit the current we use the barium and for activation we use the rubidium ions. And in both the figures we can see that barium only blocked the wild type current but and also like rubidium only acted on the wild type and it activated the current. So when we run through the gel we see the two different sizes of the proteins saying that the protein whatever produced by the mutation are transfected. And we also further confirm with the insulin that proteins are produced. We can use electrolyte diagram to test the functional vision. So we use ERG to test the disease model. We usually do injection of GIP fuels to carry 7.1 S-archerin particles. And after injection we test the ERG with the disease model and we found there is obvious inhibition of A wave and B wave. So with all this data what we found basically is this is not only a novel mutation but we saw for the first time here the cause of the disease using a molecular model which is worked out in the laboratory condition and also using a laboratory animal mouse we saw how the disease phenotype can be reproduced in mouse after you inhibit the function of the KIR 7.1 channel. To know more about this study you can go to human mutation and find detailed study report in this paper a Nobel KCNJ 13 Nonsense Mutation and loss of KIR 7.1 channel function which cause labor's congenital amyriasis. Thank you.