Principal Investigators Dr. Lucas Fernandez Brillet, and GemaEsteban Bueno, MD, Barcelona, Spain
Broad categories of neurodegenerative findings in WS have been proposed and established through prior work done by WS researchers.
This project, proposed by Dr. Lucas Brillet, aims to determine in more detail the areas of the brain that are affected in WS, and to stratify these results with respect to different WFS1 mutations.
This project will help us better understand the natural history of WS, and better understand mutation-specific symptoms that may be amenable to different types of treatment to slow progression.