FPWR Announces Grant Awards totaling $870,000

The Foundation for Prader-Willi Research (FPWR), in collaboration with FPWR-Canada, FPWR-UK, Prader-Willi France and PWSA-UK, is thrilled to announce the first round of PWS research grant recipients for 2016! Ten outstanding projects were selected for funding, totaling $870,000 in support. These projects address a variety of topics important in PWS, including mental health, behavior, diet, hypotonia, drug development and genetic therapy via maternal chromosome activation. Information on these projects and our Research Grants Program can be viewed on our most recent Research Program Webinar.

"We're extremely pleased with the quality and relevance of these projects, which address some of the most difficult issues in PWS" said Theresa Strong, Director of Research Programs.  "We anticipate that these studies will significantly impact our understanding of PWS, and lead to new ways to treat this disorder. "

"We are grateful to all of our fundraisers and partner organizations for supporting this outstanding set of research studies, which will advance the understanding and treatment of PWS", said Susan Hedstrom, Executive Director of FPWR.  "Their hard work makes it possible to support the best PWS research across the globe."

A second round of grants will be awarded in the second half of this year. You can learn more about FPWR funded research at www.fpwr.org.

Would you like to see more PWS research funded?  You can help by taking One SMALL Step for Prader-Willi syndrome. Join us at onesmallstep.fpwr.org

2016 Grants

PREDICTORS OF PSYCHOSIS IN PRADER WILLI SYNDROME.
Carrie Bearden, PhD, University of California, Los Angeles, CA. PWS is associated with a high rate of mental illness, and Dr. Bearden focuses on identifying the earliest (‘prodromal’) phase in the onset of mental illness. Here she will apply the lessons from other populations to better define the predictors of impending mental illness in PWS. Their goal is to identify the cognitive profiles of those most vulnerable to onset of mental illness. The ultimate goal of this study is early detection of PWS individuals at highest risk to allow early intervention to prevent or mitigate psychotic illness.

EVIDENCE-BASED APPROACH TO DIETARY MANAGEMENT OF PWS.
Mark Freemark MD and Andrea Haqq, MD. Duke University, NC. This supplement to a previous award will allow the investigators to complete a study of the effects of two different diets (low carbohydrate/high fat compared to high carbohydrate/low fat) on metabolism in children with PWS.

A POST-MORTEM STUDY OF VON ECONOMO NEURONS IN THE FRONTAL CORTEX OF BRAINS OF PERSONS WITH PWS. 
Patrick Hof, MD. Icahn School of Medicine at Mount Sinai, NY. Dr. Hof is an expert in neuroanatomy. He will study the structure and distribution of type of neuron (von Economo neurons) that are critical for sensory awareness, social interaction, and problem solving. These neurons are disrupted in other disorders such as autism, but have not yet been studied in PWS. {Funded in partnership with Prader-Willi France}

PRECLINICAL STUDIES OF A NOVEL EPIGENETIC THERAPY FOR PRADER-WILLI SYNDROME. 
Yong-hui Jiang, MD, PhD, Duke University, NC. Dr. Jiang has identified small molecule drugs that can activate the maternal PWS genes, offering the possibility of a genetic therapy for PWS. Building on a previous project that identified these drugs, this study will examine the feasibility of using these gene activating drugs to correct the PWS characteristics in a mouse model of PWS, examining parameters such as timing, dosing, and side effects.

REACTIVATION OF THE PWS LOCUS VIA DISRUPTION OF THE ZNF274 SILENCING COMPLEX. (YEAR 2) 
Marc Lalande, PhD University of Connecticut, CT. In year one of support, Dr. Lalande and his group characterized the role of a regulatory protein, ZNF274, in silencing the PWS region on the maternal chromosome, and demonstrated that disruption of ZNF274 causes reactivation of the PWS genes. Here they will extend that work and evaluate advanced methods of disrupting ZNF274 to allow efficient reactivation of the maternally-derived PWS region genes. {Funded in partnership with PWSA-UK}

OXYTOCIN TREATMENT IN MAGEL2 DEFICIENT MICE Francois Muscatelli, PhD INSERM, France (Year 2) 
Dr. Muscatelli will continue her work developing novel mouse models to investigate how early treatment of a PWS mouse with oxytocin results in improvements in feeding, cognition and social interaction. Using advanced genetic engineering, she will investigate the interaction of the PWS region gene, Magel2, and the oxytocin system, with the ultimate goal of informing human clinical intervention studies. {Funded in partnership with Prader-Willi France}

THE MAGEL2 PHENOTYPE IN COMPARISON TO CLASSIC PRADER-WILLI SYNDROME. 
Christian Schaaf, MD, PhD, Baylor College Medicine, TX. Loss of the PWS region gene MAGEL2 has recently been described by Dr. Schaaf, and associated with many of the characteristics of PWS. Here, Dr. Schaaf will examine in detail the behavioral, cognitive, and endocrine characteristics of ten individuals with mutations in the MAGEL2 gene only in comparison to those with classic PWS to understand how MAGEL2 contributes to the PWS characteristics.

MITOCHONDRIAL COMPLEX I DYSFUNCTION IN PRADER WILLI SYNDROME: A NEW THERAPEUTIC TARGET.
Ingrid Tein, MD. Hospital for Sick Children, Toronto. Dr. Tein is an expert in energy metabolism and muscle fitness, who is examining mitochondrial dysfunction in PWS. Her group will carefully study the effects of CoQ10 in adolescents with PWS, measuring effects on strength, endurance, muscle function. This study should generate a better understanding of the underlying deficits in muscle function in PWS, and provide important guidance on use of CoQ10 in PWS. {Funded in partnership with FPWR-Canada}

LOSS OF MAGEL2 AND HYPOTONIA IN PRADER-WILLI SYNDROME.
Rachel Wevrick, PhD, University of Alberta, Alberta. Dr. Wevrick’s group has found that mice missing the PWS-region gene Magel2 have reduced strength, activity levels and endurance. In this study they will examine interventions including diet, supplements and drugs, to improve hypotonia and muscle strength and endurance. The goal is to identify interventions that can be readily used in the clinic. {Funded in partnership with FPWR-Canada}

PLASTIC TASTER: A SWITCHING TRAINING GAME FOR PEOPLE WITH PWS THAT ADAPTS TO INDIVIDUAL NEEDS. 
Kate Woodcock, Ph.D. Queens University, Belfast (Year 2) Dr. Woodcock is interested in understanding the underlying triggers for temper tantrums in PWS, and has identified ‘task switching’ as a significant challenge. This project aims to develop a software prototype directed at teaching and improving task switching in PWS. In year 2, development of the prototype will be extended to adapt to individual needs and tailored to encourage adoption of the improved task switching to everyday life.

Topics: Research

Susan Hedstrom

author-image

Susan Hedstrom is the Executive Director for the Foundation for Prader-Willi Research. Passionate about finding treatments for PWS, Susan joined FPWR in 2009 shortly after her son, Jayden, was diagnosed with Prader-Willi Syndrome. Rather than accepting PWS as it has been defined, Susan has chosen to work with a team of pro-active and tireless individuals to accelerate PWS research in order to change the natural history of PWS. Inspired by her first FPWR conference and the team of researchers that were working to find answers for the syndrome, she hosted her first One SMALL Step walk in 2010 and began the development of the One SMALL Step walk program which now raises over $1.5 million a year for PWS research.

PWS Blog Subscribe