Projects Archive - Foundation for Prader-Willi Research | animal model

Dr. Schaaf’s previous research showed that the ‘support cells’ in the brain (astrocytes) express receptors for oxytocin, are critically involved in the modulation of social behavior and anxiety, and that there are differences in both number and anatomical location of these astrocytes in healthy mice compared to a PWS mouse model. In this second...

FPWR has established the Pre-clinical Animal Network (FPWR-PCAN) initiative to rigorously define the characteristics (phenotype) of PWS mouse models compared to ‘wild type’ or typical mice. This project will transform this effort into a valuable translational platform for the PWS scientific community by conducting multi-step, comprehensive...

Drs. Urban and Parker will examine genomic data from marmosets to lay the groundwork for the potential development of a novel animal model of PWS. The feasibility of generating a genetically engineered marmoset model for PWS will be evaluated and a detailed plan for generating this model will be generated.

PWS is not the result of a single gene mutation but rather is caused by the loss of several contiguous genes, some of which interact with each other. In this project, Drs. Bouret and Muscatelli will study a new mouse model that lacks two PWS genes, Magel2 and Necdin. The goal is to understand how Magel2 and Necdin act together to influence brain...

Two genes disrupted in PWS are SNRPN and MAGEL2, the latter which is the causal gene for Schaaf-Yang syndrome (SYS). The goal of this study is to identify and compare behavioral characteristics and protein profiles of rat models that are deficient for Snrpn and Magel2. These studies will not only provide us a deeper understanding of...

Dr. Mietlicki-Baase and her team will investigate neural/neurohormonal control of energy balance in a rat model that lacks Magel2, a gene that is lost or mutated in Prader-Willi syndrome (PWS) and Schaaf-Yang syndrome (SYS). They will test feeding motivation behaviors and examine the brain areas that control energy balance. They will also...

Dr. Jo and his team are working on appetite-controlling pathways in the brain. Research has shown that mice lacking the Magel2 gene have fewer and less functional proopiomelanocortin (POMC) neurons, which are important in regulating appetite. These neurons appear to work through the amygdala, which is a part of the brain that is important in...

The cognitive challenges experienced by many individuals with PWS remains poorly understood. Pilot data obtained in the Wells laboratory indicates that loss of expression of PWS-region gene, Snord116, leads to reduced length and branching of a certain type of neuron in the cortex of the brain. In this project they will use specialized techniques...

Dr. Resnick and his team have developed a mouse model of PWS that allows precise activation/replacement of the missing PWS genes at different times during development and in different tissues. In this second year of funding, they will work to reestablish gene expression and determine the effects on the potential reversal of traits. This study...