Overview of how FPWR is impacting the field of Prader-Willi Research

FPWR continues to energize the field of PWS research. For our 2009 funding year, we received twenty-nine applications from researchers around the world. The topics of the applications were as diverse as the many aspects of the syndrome, from basic genetic studies in the laboratory dish to clinical interventions in people with PWS. Scientific and advocate reviewers were charged with the task of working together to identify the best science that would significantly advance the understanding and/or treatment of PWS, with the highest potential of positively impacting the lives of those with the disorder. It was a difficult process as there were many more promising proposals than funds available. However, the rigorous review process led to the selection of a portfolio of grants that address many pressing needs in PWS research. In the end, we were able to fund seven exciting research projects, totaling ~$300,000 in support.

Review of 2009 Projects
The projects that FPWR will fund in 2009 include the continuation of two projects, one focused on the development and evaluation of an improved, "conditional knockout" mouse model of PWS (Resnick) and another exploring the how DNA structures (R loops) play a role in maintaining epigenetic imprints at the Prader-Willi imprinting center. New projects that will be supported this year include a genetic study aimed at defining the targets of the 'snoRNAs', those small genes that are disrupted in PWS and appear to play a critical role in development of the PWS characteristics (Beaudet) and another study that will use a high throughput screening technology to look for compounds that can substitute for the missing snoRNAs (Stamm). An analysis of the sleep/wake system in mouse models of PWS promises to shed some light on the problem of sleep disturbances, which are common in individuals with the disorder (Gao). Finally, we will support two clinical trials in those with PWS, one aimed at evaluating an anti-obesity drug (Dauosi) and another that will test the effects of oxytocin on behavior and cognition in children with PWS.

Grants Approved for Funding in 2009

• An improved mouse model of Prader-Willi syndrome (year 2). Dr. James Resnick, University of Florida

• R-loop structures maintain epigenetic imprints at the Prader-Willi imprinting center (year 2). Dr Frederic Chedin, University of California, Davis

• Role of the HBII-85 snoRNA cluster in the pathogenesis of PWS. Dr. Arthur Beaudet, Baylor College of Medicine, University of Cambridge

• Identification of substances that substitute for the loss of snoRNAs from the Prader-Willi critical region. Dr. Stefan Stamm, Unviersity of Kentucky

• Hypocretin/orexin deficiency in Prader-Willi syndrome animal models. Dr. Xiao-Bing Gao, Yale University

• Exenatide: A potential treatment for hyperphagia and obesity in persons with Prader-Willi syndrome. Dr. Christina Daousi, University Hospital Aintree, UK

• A trial of oxytocin to improve behavior and cognition in Prader-Willi syndrome. Dr. Steward Einfeld, University of Sydney, Australia

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 FPWR issued a new Request for Applications, with a due date of December, 2009. We look forward to receiving a new round of applications detailing innovative ideas on how to better understand and treat PWS. We are extremely fortunate that so many outstanding scientists are interested in studying PWS. Our task is to come up with the funds to match their enthusiasm, and allow their promising ideas to move forward. It is an exciting and hopeful time as we press on with our mission of eliminating the challenges of PWS.