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Activating Mutations in GNAQ Sensitive to Antibiotic; Novel Molecular Pathway and Treatment Target for Capillary Malformations and Related Syndromes

An unexpected observation while working on developing cell models for these vascular abnormalities generated the following idea: Cells with the capillary malformation/ Sturge-Weber syndrome mutation may be more sensitive to an antibiotic than normal cells. This suggests a particular cell molecular pathway may be signaling abnormally in these cells...

Published: 6/27/2024 | Inventor(s): Anne Comi, Jonathan Pevsner, Zhenhua Huang, Douglas Marchuk

Keywords(s): Biomarker, Disease Indication, Genetic Disorders, Mechanism-of-action Biomarker, Skin Disorders, Sturge-Weber Syndrome, Sturge-Weber Syndrome (SWS), Target, Therapeutic Matter, Therapeutics

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Dermatology > Sturge-Weber Syndrome, Clinical and Disease Specializations > Genetic Diseases, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > Biomarkers, Technology Classifications > Therapeutic Modalities > Targets, Clinical and Disease Specializations > Dermatology, Technology Classifications > Diagnostics, Technology Classifications > Therapeutic Modalities

Diagnostic Test for Sturge-Weber Syndrome (SWS), Klippel-Trenaunay-Weber Syndrome, and Port-Wine Stains (PWSs) Based on Analysis of Gene Mutations and Biological Consequences of the Mutation

Value Proposition:Sturge-Weber syndrome (SWS) is a neurovascular disorder that is often associated with a capillary malformation of the face called a port-wine stain (PWS). SWS is phenotypically related to Klippel-Trenaunay-Weber syndrome (KTWS) which is characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy...

Published: 6/27/2024 | Inventor(s): Douglas Marchuk, Jonathan Pevsner, Anne Comi, Matthew Shirley

Keywords(s): Assay, Clinical Diagnostics, Disease Indication, In Vitro Diagnostics, Klippel-Trenaunay-Weber Syndrome, Port-Wine Stain, Skin Disorders, Sturge-Weber Syndrome, Sturge-Weber Syndrome (SWS)

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Dermatology, Clinical and Disease Specializations > Dermatology > Port-Wine Stain, Clinical and Disease Specializations > Dermatology > Sturge-Weber Syndrome, Clinical and Disease Specializations > Genetic Diseases, Clinical and Disease Specializations > Genetic Diseases > Klippel-Trenaunay-Weber Syndrome, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > In Vitro Diagnostics, Technology Classifications > Research Tools > Assays, Technology Classifications > Diagnostics, Technology Classifications > Research Tools