The Sturge-Weber Foundation (SWF), a 501 (c)(3) nonprofit organization, has named Dr. Davide Zecchin of University College London the recipient of the 2018-2019 Lisa’s Sturge-Weber Research Fellowship Award. Research is defined as “patient-oriented research” conducted with human subjects, or “translational research” specifically designed to develop treatments or further various areas of scientific discoveries within Sturge-Weber Syndrome (SWS). The funds for the Lisa’s Research Fellowship Award are from a family that wishes to remain anonymous to focus the attention on “Lisa's Sturge-Weber Foundation Research Fellowship Award.”

Dr. Zecchin’s proposal is “Genetic Therapy for the Sturge-Weber Mutation – Proof of Concept Study.” He is an expert in cancer genetics. He received his Ph.D. from the Institute for Cancer Research and Treatment – Candiolo (Turin, Italy) and has performed postdoctoral research in Turin and at the London Research Institute and The Francis Crick Institute. He recently joined the laboratory of Dr. Veronica Kinsler at Great Ormond St. Hospital for Children in London. Dr. Kinsler is expert in mosaic disorders and GNAQ, which when mutated causes Sturge-Weber syndrome. Her lab has shown that GNAQ mutations are responsible for phakomatosis pigmentovascularis (PPV) and Extensive Atypical Dermal Melanocytosis (EDM), and has done pioneering work in characterizing the development of birthmarks.

Dr. Zecchin proposes to demonstrate that Sturge-Weber syndrome (SWS) could potentially be treated by genetic therapy. This genetic therapy would not only be aimed at the skin, but at all GNAQ-mutant cells in the body. The approach is to use gene therapy to correct the GNAQ mutation, working in cells derived from patients. It is thought that gene therapy could be used effectively after birth with the potential to prevent epilepsy, neurodevelopmental delay, and glaucoma.

The Sturge-Weber Foundation exists to improve the quality of life and care for patients and families through research, awareness, advocacy and community. The Sturge-Weber Foundation is located at 12345 Jones Rd. Suite 125, Houston, TX 77070, 973-895-4445, http://www.sturge-weber.org, swf(at)sturge-weber.org.

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