Dr. Moine aims to elucidate the role of DGKk in PWS pathology and explore its potential as a biomarker and therapeutic target. Recent evidence suggests that SNORD116 may regulate the expression of DGKk, an enzyme crucial for lipid signaling pathways in neurons. DGKk controls the balance between diacylglycerol (DAG) and phosphatidic acid (PA),...
Dr. Godler has found one ribosomal gene called RPS18 to be upregulated in all types of cells in specific regions of the brain from donors with PWS. He then showed that this upregulation in blood was associated with severity of PWS in another group of living individuals, including intellectual functioning and behavioral problems. In this project...
Dr. Godler has been investigating cell-specific changes in gene expression in blood and brain tissue samples from individuals with PWS, with the goal of developing blood-based biomarkers of PWS severity. Here his collaborative will apply newer technologies to look at genes and proteins that are differentially expressed in PWS and use that...
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The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research and therapeutic development.
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