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Repurposing H1 and H2 antihistamines for the treatment of erythropoietic protoporphyria
Invention Summary:
Erythropoietic protoporphyria (EPP) is a severe genetic disorder caused by defects in heme biosynthesis, leading to the accumulation of protoporphyrin IX (PP-IX) in the liver. This accumulation results in cholestasis and, in the most severe cases, end-stage liver failure, necessitating liver transplantation or leading to...
Published: 2/4/2025
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Inventor(s): Bishr Omary, Ning Kuo
Keywords(s):
Category(s): Technology Classifications > Therapeutics, Technology Classifications > 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
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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
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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
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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
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