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

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
COMPOSITIONS AND METHODS FOR TREATING VASCULAR MALFORMATION AND RELATED CONDITIONS	PCT: Patent Cooperation Treaty	United States	15/750,674	11,452,737	2/6/2018	9/27/2022	5/10/2037	Granted
COMPOSITIONS AND METHODS FOR TREATING VASCULAR MALFORMATION AND RELATED CONDITIONS	CON: Continuation	United States	17/935,236		9/26/2022			Pending

Direct Link:

https://jhu.technologypublisher.com/technology/24840

Inventors:

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,

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For Information, Contact:

Nakisha Holder

nickki@jhu.edu

410-614-0300

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