The Foundation for Prader-Willi Research announces our second round of Research Awards in 2020 totaling $666,566. FPWR is dedicated to supporting research that advances the understanding and treatment of Prader-Willi syndrome (PWS) and to that end, has awarded over $15,00,000 in research grants since 2003.
On a recent webinar, Dr. Theresa Strong reviewed each of the 8 funded grants, sharing why we're excited about them and what their potential long term contribution could be. You can watch the full 45-minute webinar here or use the links below to watch short 2-minute segments on each specific project.
FPWR PWS Research Grant Recipients, Fall 2020
Adult Spine Alignment in Prader-Willi Syndrome. Harold van Bosse, MD, Shriner’s Hospitals for Children, Philadelphia. Dr. van Bosse and his team will define the typical posture of grown children and adults with PWS without spinal deformities (e.g., scoliosis). These results will be compared to results from the general population will be used to create guidelines for the alignment of the spine after spinal surgery in children with PWS. Learn More >>
Guanfacine XR for Aggression and Self Injury in PWS- A Double Blind Placebo Controlled Trial. Deepan Singh, MD, Maimonides Medical Center. Guanfacine XR (brand name Intuniv) is a medication for ADHD that improves impulse control. Dr. Singh has noted improvements in aggression and self-injury in PWS patients in his practice when using this medication. Here, he will perform a controlled clinical trial to evaluate the efficacy of guanfacine for treating these aspects of PWS, and also evaluate the safety and tolerability of the medication in the PWS population. Learn More >>
NEUROHORMONAL CONTROLS OF ENERGY BALANCE IN THE MAGEL2-DEFICIENT RAT. Elizabeth Mietlicki-Baase, The Research Foundation for The SUNY on behalf of University at Buffalo. Dr. Mietlicki-Baase and her team will investigate neural/neurohormonal control of energy balance in a rat model that lacks the PWS-region gene, Magel2. They will test feeding motivation behaviors and examine the brain areas that control energy balance. They will also evaluate neural responses to satiation signals focusing on a part of the brain (NTS) that is an energy-balance controlling hub and examine key appetite hormones to gain new insights into the physiology and neurobiology of PWS. Learn More >>
ROLE OF MAGEL2 IN MELANOCORTINERGIC CIRCUITS AND FEEDING REGULATION. Young-Hwan Jo, Albert Einstein College of Medicine. 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 emotions and motivation. This study will investigate how loss of the Magel2 gene impairs the ability of POMC neurons to control appetite through the amygdala, leading to an understanding of the cellular mechanisms underlying weight gain in PWS. Learn More >>
UNRAVELING THE MECHANISM OF PWS BY MOLECULAR DISSECTION OF DRIVER GENES IN HYPOTHALAMIC NEURON MODEL. Derek Tai, Massachusetts General Hospital. Dr. Tai and his team have used CRISPR genome editing techniques to generate a series of PWS deletion stem cells (small deletion, large deletion and single genes). Here, they will drive the cells to become hypothalamic neurons in a lab dish, then apply advanced technologies to study the cellular properties of these PWS neurons compared to typical hypothalamic neurons. Characterization of these new cellular models for PWS may lead to the identification of new therapeutic targets. Learn More >>
Development of a suite of assays for the analysis of pws patient ipsc-derived cortical neurons. Anne Bang, PhD, Sanford Burnham Prebys Medical Discovery Institute. Dr. Bang and her team will apply a series of ‘assays’ (lab tests evaluating cell function) to PWS patient-specific stem cells (iPSC) that have been driven to become cortical neurons in a lab dish. Once validated, these assays can be used to discover novel therapeutic targets for PWS, screen for drugs that can correct impaired neuronal function, and test drugs in a PWS- relevant context. Learn More >>
A mouse model to assess genetic therapies for Prader-Willi syndrome (Year 2). Jim Resnick, PhD, University of Florida. 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 will help determine how late in pre or postnatal development expression of PWS genes must be restored to have a beneficial effect, guiding the development of genetic therapies for PWS. (funded by a gift from the Storr Family Foundation.) Learn More >>
Defining impaired neuronal architecture in the Snord116del mouse model for Prader-Willi Syndrome. Timothy Wells, PhD, Cardiff University. 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 to build on this preliminary finding in a mouse model of PWS. This project will begin to address a major deficit in our understanding of PWS, delineating the mechanisms of cognitive impairment, with the ultimate goal of identifying potential therapeutic strategies to improve cognition.
Learn More >>