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dc.contributor.authorLeavens, Caterra
dc.contributor.authorSadowska, Kati
dc.contributor.authorReither, Daniel
dc.contributor.authorGingerich, Jamie Lyman
dc.contributor.authorGingerich, Derek J.
dc.descriptionColor poster with text, charts, and images.en_US
dc.description.abstractGenetic testing involves examining a patient's DNA sequence to look for changes (mutations) in the DNA that can potentially cause disease or illness. While some of the changes are benign, many have not yet been characterized and are thus classified as variants of uncertain significance (VUS). In collaboration with Prevention Genetics, our lab has begun to analyze VUS that are predicted to affect the splicing of genes related to ocular diseases. Disruption or alteration of splicing can affect gene function and lead to disease. We are using a minigene system in which the gene segment under investigation is cloned into a plasmid vector and then transfected into eukaryotic cell culture. The mRNA transcripts are then collected and analyzed to determine the effects of the variant on the transcript. Analysis of VUS could lead to a change in variants’ interpretation and directly have an impact on patients and their families by supporting diagnosis and access to treatment.en_US
dc.description.sponsorshipUniversity of Wisconsin--Eau Claire Office of Research and Sponsored Programsen_US
dc.relation.ispartofseriesUSGZE AS589;
dc.subjectGenetic diseasesen_US
dc.subjectEye diseasesen_US
dc.subjectDepartment of Biologyen_US
dc.titleCan These Mutations Lead to Blindness? : Analyzing the Effects of Genetic Variants of Uncertain Significanceen_US

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    Posters of collaborative student/faculty research presented at CERCA

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