Search Results - bishr+omary

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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

Use of Retinoids in Congenital Erythropoietic Porphyria

Invention Summary: Congenital erythropoietic porphyria (CEP) is an unaddressed orphan disease caused by a rare genetic disorder leading to accumulation of uro/coproporphyrin-I (uro-I) in tissues due to inhibition of the enzyme uroporphyrinogen-III synthase. Clinical manifestations of CEP include bone fragility, severe photosensitivity, and photo-mutilation....

Published: 8/28/2024 | Inventor(s): Bishr Omary, Jordan Shavit

Keywords(s): Small molecules

Category(s): Technology Classifications > Therapeutics, Technology Classifications > Healthcare & Life Sciences