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Francis Crick Institute Research

Researchers design potential therapies to prevent brain deterioration in children with rare genetic conditions

A research team at the Francis Crick Institute and Great Ormond Street Hospital (GOSH)/UCL Great Ormond Street Institute of Child Health have identified new potential treatments for children with rare genetic conditions of blood vessels, which cause severe, lifelong, and disabling symptoms like seizures and impaired development.

Through two papers published today in the Journal of Investigative Dermatology, the researchers showed that problems with calcium underlie these diseases. Stabilizing calcium levels in the brain could therefore be a target for new treatments, to protect the brain from damage over time.

‘Mosaic mutations’ – genetic changes which appear in some cells in the body but not all – in two genes, GNAQ or GNA11, cause a spectrum of conditions including Sturge-Weber syndrome and Phakomatosis Pigmentovascularis with Dermal Melanocytosis (PPV-DM).

Sturge-Weber Syndrome: A Report of a Rare Case
Dec. 26, 2023 | Dental procedures in these individuals pose challenges due to the potential risk for substantial bleeding during both intra- and postoperative phases. Osama A. Sherwani • Padma C. Patra • Syed A. Ahmad • Shamimul Hasan

Deep Venous Remodeling in Unilateral Sturge-Weber Syndrome: Robust Hemispheric Differences and Clinical Correlates by Csaba Juhász, Aimee F Luat, Michael E Behen, Nore Gjolaj, Jeong-Won Jeong, Harry T Chugani, Ajay Kumar, Feb. 2023

Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11, published by the NIH, August 2022 Read Here.

Defining patient-centered research priorities in pediatric dermatology
Patient and caregiver perspectives are critical in understanding dermatologic disease impact, presentation, and management in children. 

Port-Wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management, September 2022 DOWNLOAD HERE

C-Path and Sturge-Weber Foundation Announce Data Sharing Agreement to Support Treatment Development for Sturge-Weber Syndrome Press Release

Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels, AHA Journal, Published 21, October 2021.

Introduction of Mutant GNAQ into Endothelial Cells Induces a Vascular Malformation Phenotype with Therapeutic Response to Imatinib,, Published: 14 January 2022

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