Projects

This project aims to clarify the role of the brain’s cholinergic system in PWS and its connection to cognitive difficulties and hyperphagia. Dr. Yi and her team hypothesize that acetylecholine (ACh) deficiency in the brains of individuals with PWS may contribute to their cognitive impairments and appetite-related challenges, as the cholinergic...

The SNORD genes are known to be very important in PWS, but there is a lack of appropriate tools to study the target and function of these genes. Dr. He and his team have developed two new methods that can map the targets of the SNORD genes. They will apply these new methods to mouse models and human cell lines with a deficiency in PWS-encoded...

Through previous work using a new optimized method, Dr. Whipple discovered that Snord116, a driver of PWS, directly interacts with ribosomes, the machinery that produces proteins in the cell in mouse neurons. In this funded project, they will apply their optimized method to human neurons to ask if the interaction between SNORD116 and ribosomes is...

By creating three-dimensional hypothalamic organoids from hiPSCs with PWS-relevant deletions, Dr. Tai will investigate how specific genetic changes drive molecular and cellular alterations in PWS. The study will identify disease-relevant genes, pathways, and cell types, establishing a framework for future research that includes rescuing molecular...

This proposal aims to demonstrate that structural changes in brain capillaries are central to the metabolic and neurophysiological issues seen in Prader-Willi Syndrome (PWS). Dr. Schneeberger Pane believes the brain's local environment drives capillary changes, impacting brain plasticity and further contributing to disease progression. They will...

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),...

People with PWS experience abnormally high amounts of REM sleep and an inappropriate occurrence of REM sleep in the middle of active wake periods. Previous research has shown that neurons secreting a certain hormone (MCH) control REM sleep. To determine if MCH neurons are overactive in PWS, this research team will express ‘neural activity...

Our understanding of cellular MAGEL2 functions in brain development and SYS pathophysiology is limited due to insufficient data on cell type-specific and development- dependent MAGEL2 expression patterns. Dr. Althammer's project will provide unprecedented information about RNA expression patterns in a time and cell type-specific manner, which...

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...