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

Case ID:
C13712
Disclosure Date:
6/23/2015
Description:
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 with the mutation. We propose to determine whether blood vessels cells with this mutation grow less well with this antibiotic and to investigate changes in this pathway in cells and in human tissue.
Patent Information:
Title App Type Country Serial No. Patent No. File Date Issued Date Expire Date Patent Status
DOD Priority Area: Vascular Malformation PCT: Patent Cooperation Treaty PCT PCT/US2016/044442   7/28/2016     Expired
DOD Priority Area: Vascular Malformation PCT: Patent Cooperation Treaty United States 15/750,674 2/6/2018     Pending
Inventors:
Category(s):
For Information, Contact:
Sonriza Ford
sford23@jhu.edu
410-614-0300
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