Search Results - technology+classifications+%3e+rare+disease

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PKC412 restores functionality of the keratin cytoskeleton in the skin disorder epidermolysis bullosa simplex
­​ ​ Invention Summary: Epidermolysis bullosa simplex (EBS) is a highly penetrant genetic condition that causes fragility of skin keratinocytes resulting in fluid-filled skin blisters that erode upon scratching or minor pressure on the skin. There is no good cure for EBS, and treatment typically involves preventive and/or supportive care...
Published: 10/21/2024   |   Inventor(s): Bishr Omary, Thomas Magin, Jacques Roberge, Katrin Rietscher, Pei Li
Keywords(s): Dermatology
Category(s): Technology Classifications > Healthcare & Life Sciences, Technology Classifications > Rare Disease
Versatile CRISPR-Cas9 Gene Editing System
Successful gene editing in neurons differentiated from patient-derived neural stem cells. Left panel, gene editing using control guide RNA; Right panel, gene editing using MeCP2 guide RNA. Invention Summary: CRISPR-Cas-mediated genome editing makes effective gene therapy of human disease feasible. Although viral delivery of CRISPR-Cas...
Published: 9/12/2024   |   Inventor(s): Ki-Bum Lee, Hyeon-Yeol Cho, Myung-Sik Yoo
Keywords(s): Gene editing
Category(s): Technology Classifications > Healthcare & Life Sciences, Technology Classifications > Rare Disease, Technology Classifications > Therapeutics