2016 Annual Report

Dear Friends

Dear Friends,

2016 was a fantastic year for PWS research.

We have new insights into how loss of the PWS genes leads to the condition’s symptoms. We have momentum in using this knowledge to find new drugs to treat PWS. We have new tools to improve the efficiency of PWS research, and we are fostering collaborations among pharmaceutical industry partners.

And we have each other. The Foundation for Prader-Willi Research is our organization. It is our way to support the research our families need and to support each other.

We offer our heartfelt gratitude to all of the friends, donors and researchers who are part of our fight.

Thank you.

Susan Hedstrom

Executive Director, Foundation for Prader-Willi Research

Download Annual Report PDF

Total Invested in Research

In 2016, FPWR funded 18 research grants and set the foundation for our directed research programs. Strategic investments were made to advance our understanding of PWS, develop critical research tools, support clinical trials and advance gene therapy for PWS.

In 2016, we invested $2,253,113 into research projects.

Genetic Therapy, Drug Development
$81,000 Novel Hyperphagia Drug Development
$108,000 Small Molecule PWS Gene Reactivation
$86,400 PWS Gene Reactivation - Genetic Strategy
$86,450 Optimization of Oxytocin Therapy
Discovery Science
$57,006 Scientific Workshops
$70,000 SNORD116 Actions
$75,600 Organization of Neurons Important in Social Interaction
$84,387 MAGEL2 and Hypotonia
$86,400 Molecular Mechanisms of PWS
$108,000 Wake Promoting Effects of Oxytocin
$108,000 Hormone Secretion Defects
$108,000 Ghrelin's Role in PWS
Research Tools
$3,187 Registry
$26,448 Caregiver Burden, Endpoint Development
$102,355 New models
$163,200 Optimization of PWS MouseModels (2)
$246,232 Patient Preferences,PWS Impact
Clinical Care
$20,000 Diet Management
$86,400 Task Switching
$106,941 Clinical Features of SYS and PWS
$107,991 Predictors of Psychosis
$108,000 Social Functioning
$108,000 Improving Muscle Function with CoQ10
$115,116 Modified Atkins Diet Intervention

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Partners in Research

The PWS Clinical Trials Consortium brings together academics, industry and patient advocates in a collaborative environment to help address the challenges of PWS clinical trials.

Researchers have made remarkable progress in the field of PWS research, but trials can take years to conduct and cost millions of dollars. One key to conducting efficient and effective trials is the identification and validation of reliable outcome measures and biomarkers. Unfortunately, many features of PWS, such as hyperphagia, anxiety and mental health, are difficult to quantify accurately.

One of the aims of the consortium is to improve existing outcome measures and explore novel ones. The goal is to have a suite of objective and sensitive tools to measure trial outcomes.

A second aim of the consortium is to validate the human side of the clinical trial process to ensure that the preferences and perspectives of patients and their families are accurately represented in the drug approval process. In 2016, we began a two-year project with Dr. John Bridges and his team at Johns Hopkins to incorporate patient and caregiver perspectives on the benefits and risks they are willing to take with regards to PWS treatment options.

Partners in Research

"The PWS Clinical Trials Consortium provides credible and extensive knowledge to researchers, families and federal agencies that receive new drug applications for PWS. Agencies like the FDA cannot truly understand what families deal with in their daily lives. This vital partnership between families and researchers will further the mission of developing novel treatments for PWS that diminish the burden of the disorder and increase independence and quality of life."
- Elizabeth Roof, Vanderbilt University

The PWS Clinical Trials Consortium is a great opportunity for stakeholders from academia, industry, and patient organizations to work together at the international level with a common goal of addressing unmet needs in clinical development and increasing success of delivering new treatments for patients with PWS. Alizé Pharma is pleased and excited to be part of this consortium as an industry sponsor and looks forward to the progress of this important effort."
- Soraya Allas, Medical Director of Alizé

Pre-Clinical Animal Network

PCAN models are an important component of drug development used to measure both the safety and efficacy of potential drugs before they are given to people in clinical studies. FPWR is directing a collaborative network to ensure an effective screening platform is available for potential PWS drugs. Investing in pre-clinical animal models early on in the drug development pathway will save us time, and precious funding, in the long haul.

"If we can, in a way, eliminate as many drugs as possible at the pre-clinical stage [using animal models], we can increase the chances that any drug that reaches the clinical trial stage will be efficient and efficacious in patients."
- Nathalie Kayadjanian, FPWR Director of Translational Research
"PCAN is bringing together scientists from around the world to share their expertise and build a network allowing for comparison of data between models. This is a very positive and constructive way of pushing scientific research forward for PWS."
- Francoise Muscatelli, Mediterranean Institute of Neurobiology, INMED, France

Selected Accomplishments

In 2016, 28 FPWR-funded projects were published in the medical literature, further defining PWS and increasing our understanding of this complex disorder.

Drs. Rudolph Leibel and Lisa Cole Burnett, above, published a breakthrough discovery that suggests a deficiency of prohormone convertase, PC1, may underlie many of the symptoms of PWS.

Dr. Yossi Tam and colleagues have identified a compound that decreased hunger and induced weight loss in PWS mice.

Dr. Stefan Stamm showed that snoRNA have a newly discovered function to regulate other RNA.

Dr. Stewart Einfeld and colleagues have found that individuals with PWS have reduced levels of the neurotransmitter GABA in their brains, which may be the cause of behavioral problems such as temper outbursts, skin picking, social difficulties and depression. This suggests interventions to increase GABA levels may help these issues in PWS.

Dr. Kate Woodcock displaying TASTER video game prototype

Dr. Kate Woodcock has developed a videogame prototype to improve individuals’ task switching ability and allow people with PWS to experience change with fewer temper outbursts.

The Global PWS Registry is now 1,000 patients strong and growing. The Registry builds our knowledge base, becoming an ever more valuable resource for our community.

Several FPWR- supported papers were published in the medical literature that advance our understanding of the neural circuitry regulating food intake.

In 2016, we invested $1,909,000 in 18 RESEARCH GRANTS.

Natural History Studies Webinar

FPWR Advances the Rare Disease Community

FDA Listening Session: The FDA recognizes the importance of understanding the history and natural course of the disease in order to develop drugs. In 2016, the FDA invited input from FPWR on the use of our registry to collect data on PWS and invited us to participate in a webinar on Natural History Studies. FPWR was one of a small number of organizations to also be invited to the FDA for a listening session at which we were asked to express our priorities and concerns regarding drug development. Our message is summarized in a webinar and blog.

PCORI Grant / Real World Data Workshop: Patient-centered research brings the voice of the patient to clinical studies and incorporates the patient view. FPWR values putting patients first. In 2016, we were awarded funds from the Patient-Centered Outcomes Research Institute (PCORI) to drive the discussion around how to use real world data to advance clinical trials in PWS. The Real World Data Workshop held at FPWR’s annual conference brought together stakeholders to identify opportunities and challenges.

Clinical Trials Transformation Initiative (CTTI): FPWR is an active member of CTTI, a public- private partnership supported by the FDA to develop and drive adaptation of practices that will increase the quality and efficiency of clinical trials. Theresa Strong, FPWR’s director of research programs, participated in CTTI’s Mobile Clinical Trials project and helped organize a conference on Systematic Evidence Generation.

The National Organization for Rare Disorders (NORD): NORD includes hundreds of rare disease organization members. In 2016, Jessica Bohonowych, FPWR’s associate director of research programs, presented to the NORD membership on how to develop a registry, lessons learned from the development of the FPWR registry and information on the data we have collected to date.

Nelson Family

Affiliates & Alliances

FPWR continues to build an international community dedicated to funding the best PWS research in the world. Collaborations now include other organizations making grants directly to FPWR-supported research. We applaud their efforts on behalf of our children throughout the world.

Contributed in 2016:

  • FPWR-Canada $415,503

  • FPWR-UK $126,288

  • Un Petite Pas, France $86,540

  • PWSA-UK $42,196

FPWR is excited to build a new partnership with the Schaaf-Yang syndrome (SYS) community. SYS occurs when a single gene in the PWS region, MAGEL2, is defective. Because MAGEL2 is one of the key genes involved in PWS as well, FPWR is committed to better understanding the function of this gene and how to treat the symptoms associated with its loss.

Schaaf-Yang Syndrome Families raised $8,295 for MAGEL2-related research in 2016.

Download Annual Report PDF


Scientific Meetings

Collaboration is at the heart of everything we do. In 2016, we brought together more than 600 scientists, health care professionals, parents and caregivers to define research questions, identify research opportunities and guide the development of targeted initiatives.

Bringing together researchers from around the globe has generated international collaborations and initiatives. In 2016, we saw an exponential increase in scientific research internationally.

Collaborative meetings promote in-depth discussion, encourage innovation across fields of expertise and allow researchers to share data long before publication.


Family Conference

FPWR’s annual family conference educates and empowers the PWS community. The 2016 conference, held in October in Providence, Rhode Island, welcomed more than 150 participants. The Real World Data Workshop was a highlight, bringing together patient and stakeholder partners in a co-learning environment toward the development of real world data research in PWS.

“FPWR is a truly phenomenal organization that is working so hard to eliminate the many challenges that our beautiful children face every day. Attending a conference is a firsthand look at the many extraordinary things that are on the horizon for our children’s futures. It’s the biggest and best dose of hope you could ever ask for!”
- Becky McWilliams


Everything FPWR does — and every dollar raised — can be traced to families affected by PWS. In 2016, families raised money and awareness by throwing galas and golf tournaments, organizing One SMALL Step walks and other community events.

We remain grateful to all the families and friends who generously support the work of FPWR.

  • DC Golf and Tennis Tournament

    $150,846 / September - Alexandria, VA

  • Dragon Dash of Castle Hills

    $22,485 / November - Lewisville, TX

  • Fighter Jhett Classic

    $13,905 / May - Palestine, IN

  • Harvesting Hope 5K

    $47,144 / November - Stapleton, CO

  • Jack’s Party on the Patio

    $21,011 / June - Frazier, MI

  • Live Life FULL Gala, Chicago

    $64,056 / April - Philadelphia, PA

  • Live Life FULL Gala, Philadelphia

    $158,362 / April - Philadelphia, PA

  • Live Life FULL Gala, Texas

    $157,735 / October - Houston, TX

  • New York City Marathon: Team FPWR

    $151,366 / November - NYC, NY

  • One SMALL Step, Atlanta

    $13,352 / November - Atlanta, GA

  • One SMALL Step, Avon

    $32,309 / September - Avon, IN

  • One SMALL Step, Bridgeton

    $14,050 / May - Bridgeton, MO

  • One SMALL Step, Clear Brook

    $3,470 / August - Clear Brook, VA

  • One SMALL Step, Columbus

    $34,123 / August - Columbus, OH

  • One SMALL Step, Crestview

    $3,604 / December - Crestview, FL

  • One SMALL Step, Deerfield

    $31,123 / September - Deerfield, IL

  • One SMALL Step, Dripping Springs

    $19,870 / Virtual Event

  • One SMALL Step, Hillsboro

    $20,039 / July - Hillsboro, OR

  • One SMALL Step, Houma

    $12,184 / May - Houma, LA

  • One SMALL Step, Jacksonville

    $315 / November - Jacksonville, FL

  • One SMALL Step, Jeffersonville

    $2,280 / September - Jeffersonville, IN

  • One SMALL Step, Johnston

    $30,100 / September - Johnston, RI

  • One SMALL Step, Kingfisher

    $5,110 / Virtual Event

  • One SMALL Step, Long Island

    $108,505 / September - Long Island, NY

  • One SMALL Step, Madison

    $730 / May - Madison, WI

  • One SMALL Step, Mission Viejo

    $36,560 / October - Mission Viejo, CA

  • One SMALL Step, Northborough

    $16,030 / March - Virtual Event

  • One SMALL Step, Omaha

    $12,935 / May - Omaha, NE

  • One SMALL Step, San Antonio

    $89,859 / November - San Antonio, TX

  • One SMALL Step, San Diego

    $17,310 / October - San Diego, CA

  • One SMALL Step, Santa Monica

    $40,389 / November - Santa Monica, CA

  • One SMALL Step, Sauquoit

    $6,648 / August - Sauquoit, NY

  • One SMALL Step, Silver Creek

    $16,890 / July - Silver Creek, NY

  • One SMALL Step, Spartanburg

    $34,761 / September - Spartanburg, SC

  • One SMALL Step, Staten Island

    $15,861 / August - Staten Island, NY

  • One SMALL Step, Virtual 5K

    $2,093 / Year Round - Virtual Event

  • One SMALL Step, Virtual Walk

    $125,975 / Year Round - Virtual Event

  • One SMALL Step, Vancouver

    $25,666 / May - Vancouver, WA

  • One SMALL Step, Waldorf

    $11,608 / August - Waldorf, MD

  • One SMALL Step, Washington, DC

    $47,508 / June - Washington, DC


Donate to Support Our Work



The Foundation for Prader- Willi Research is extremely conscientious with the donations entrusted to our care. In 2016, 81% of every dollar spent went directly to research programs. As our most dedicated friends and supporters, you make our work possible. Thank you for all that you do!

As of December 31, 2016

Cash and cash equivalents $1,844,216
Contributions receivable $672
Prepaid expenses $14,132
Investments $3,018,803
Total Current Assets $4,877,823
Grants Payable $1,460,342
Accounts Payable $58,055
Total Liabilities $1,518,397
Total Net Assets $3,359,426
Total Liabilities and Net Assets $4,877,823
Revenue $3,282,039
Total Expenses $2,994,558
Programs Expenses $2,412,058
Programs Expense Percentage 81%
Increase in Net Assets $287,481
Total Projects Funded $2,253,113
Number of Projects Funded 24

Download Annual Report PDF

Funded Projects

FPWR has funded more than 125 research grants since 2003, investing $8.5 million into PWS research around the world.

  1. SMALL MOLECULE ALLOSTERIC MODULATORS OF THE MELANOCORTIN-4 RECEPTOR FOR THE TREATMENT OF PRADER-WILLI SYNDROME. Roger Cone, University of Michigan ($81,000). There are data suggesting that one of the systems that regulates appetite and weight in the brain, the melanocortin-4 receptor pathway, may be disrupted in PWS. This study will examine a new class of drugs targeting this pathway, in a mouse model of PWS. The drugs will be tested alone and in combination with other drugs currently being evaluated for PWS-associated hyperphagia.
  2. PHYSIOLOGICAL AND GENETIC DETERMINANTS ON HYPERTHERMIA AND HYPERPHAGIA IN PWS. Valter Tucci, Ph.D., Italian Institute of Technology ($75,600). Dr. Tucci’s group has shown that mice with the SNORD116 deletion have sleep abnormalities and increased body temperature. They hypothesize that environmental temperature may play a crucial role in the pathophysiology of PWS symptoms, including sleep and obesity. They will use PWS mice that will be maintained under different temperature regimens and then analyzed for sleep changes, body weight, food intake and energy expenditure.
  3. WAKE PROMOTING EFFECTS OF OXYTOCIN (YEAR 2). Thomas Scammell, M.D., Harvard Medical School ($108,000). Caregivers, physicians and patients with PWS report that daytime sleepiness in PWS significantly disrupts daily life. However, the underlying cause of excessive daytime sleepiness in PWS is unknown. Dr. Scammell’s group is exploring the contribution of reduced neuronal function in the hypothalamus region of the brain, specifically, oxytocin/orexin signaling. Using a photoactivation technique that specifically targets and activates certain subsets of neurons, this project will help us understand impairments in the brain’s ability to control sleep and wakefulness in PWS, and provide potential targets for intervention.
  4. HE MOLECULAR MECHANISM OF SNORD116 ACTION AND POSSIBLE SNORD116 SUBSTITUTION STRATEGIES. Stefan Stamm, Ph.D., University of Kentucky ($70,000). The loss of two snoRNAs, SNORD115 and SNORD116, plays a central role in the development of Prader-Willi syndrome. However, the normal function of SNORD116 is still unclear, making it difficult to understand what goes wrong when SNORD116 is lost. Dr. Stamm’s group is exploring how SNORD116 influences other genes, and their preliminary studies indicate that SNORD116 regulates a number of other RNAs. Here, they will define the genes that SNORD116 targets, potentially establishing new therapeutic targets, and explore approaches to replace SNORD116 function.
  5. RECAPITULATING OBESITY AND HYPERPHAGIA IN NOVEL ADULT-ONSET MOUSE MODELS OF SNORD116 DELETION. Giles Yeo, Ph.D., University of Cambridge ($87,600). Although it is well established that deletion of SNORD116 contributes to PWS in humans, mice missing SNORD116 don’t display hyperphagia and obesity. This makes it very difficult to study the biology of SNORD116 and test anti-obesity drugs. In a major breakthrough, Dr. Yeo’s group has shown that if SNORD116 is deleted in adult mice, a percentage of them do display the hallmark PWS features of obesity and hyperphagia. Studying this novel model in detail will help us understand SNORD116 function and also provide a new model for testing therapeutic interventions for obesity and hyperphagia in PWS.
  6. UNDERSTANDING MULTIPLE HORMONE SECRETION DEFICITS IN PRADER-WILLI SYNDROME. Robert Nicholls, Ph.D., University of Pittsburgh Medical Center ($108,000). Numerous hormone levels are deficient in PWS. However, the underlying biology and how the altered hormone levels contribute to the characteristics of PWS is not well understood. Dr. Nicholls’ group has developed a novel cell culture model system to study how PWS genes regulate hormone production and release. This model system will advance our understanding of PWS at the cellular level, and may provide a platform that can be used for high throughput screening of small molecule therapies for PWS.
  7. GHRELIN: IS IT DETRIMENTAL, BENEFICIAL, OR INCONSEQUENTIAL IN PRADER-WILLI SYNDROME? (YEAR 2). Jeffrey Zigman, M.D., Ph.D., University of Texas Southwestern Medical Center ($108,000). Ghrelin levels are elevated in PWS, but why, how, and whether it plays a role in hyperphagia or other aspects of PWS are all still unanswered questions. This project will explore if ghrelin plays a protective role in PWS with regards to growth hormone deficiency, hypoglycemia and mental health issues, but a detrimental role with regards to extreme food- seeking behaviors and obesity. Clarifying the role of ghrelin is a critical step for future therapies designed to target the ghrelin system in PWS.
  8. IMPROVING SOCIAL FUNCTIONING IN PRADER- WILLI SYNDROME. Elisabeth Dykens, Ph.D., Vanderbilt University ($108,000). People with intellectual or developmental disabilities, including Prader-Willi syndrome, are at heightened risk for social exclusion and isolation. This underpins loneliness, depression and anxiety, and contributes to poor health and reduced longevity. This project will recruit 50 young adults with PWS into an intensive, 10-week group intervention aimed at improving social skills, perceptions and thinking, to help manage anxiety, depression, mental health problems, relationships with family, friends, and caretakers. The goal is to develop a program that can be extended to impact young adults with PWS.
  9. PRECLINICAL STUDIES OF A NOVEL EPIGENETIC THERAPY FOR PRADER-WILLI SYNDROME. Yong-hui Jiang, M.D., Ph.D., Duke University ($108,000). Dr. Jiang has identified a drug that can activate the maternal PWS genes. This project will advance that drug towards human clinical trials, establishing the safety and efficacy of gene activation in mouse models.
  10. REACTIVATION OF THE PWS LOCUS VIA DISRUPTION OF THE ZNF274 SILENCING COMPLEX (YEAR 2). Marc Lalande, Ph.D., University of Connecticut ($86,400). 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}
  11. THE MAGEL2 PHENOTYPE IN COMPARISON TO CLASSIC PRADER-WILLI SYNDROME. Christian Schaaf, M.D., Ph.D., Baylor College of Medicine ($106,941). 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.
  12. LOSS OF MAGEL2 AND HYPOTONIA IN PRADER-WILLI SYNDROME. Rachel Wevrick, Ph.D., University of Alberta ($84,387). 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}
  13. MITOCHONDRIAL COMPLEX I DYSFUNCTION IN PRADER WILLI SYNDROME: A NEW THERAPEUTIC TARGET. Ingrid Tein, M.D., Hospital for Sick Children, Toronto ($108,000). 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, and muscle function. This study should provide important guidance on the use of CoQ10 in PWS. {Funded in partnership with FPWR-Canada}
  14. A POST-MORTEM STUDY OF VON ECONOMO NEURONS IN THE FRONTAL CORTEX OF BRAINS OF PERSONS WITH PWS. Patrick Hof, M.D., Mount Sinai ($75,600). Dr. Hof is an expert in neuroanatomy. He will study the structure and distribution of a 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}
  15. PREDICTORS OF PSYCHOSIS IN PRADER WILLI SYNDROME. Carrie Bearden, Ph.D., UCLA ($107,991). 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. They will evaluate an online assessment approach to determine the cognitive profiles of those most vulnerable to onset of mental illness. The ultimate goal of this study is early detection of those at highest risk to allow early intervention to prevent or mitigate psychotic illness.
  16. PLASTIC TASTER: A SWITCHING TRAINING GAME FOR PEOPLE WITH PWS THAT ADAPTS TO INDIVIDUAL NEEDS (YEAR 2). Kate Woodcock, Ph.D., Queens University, Belfast ($86,400). 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.
  17. EVIDENCE-BASED APPROACH TO DIETARY MANAGEMENT OF PWS. Mark Freemark, M.D., and Andrea Haqq, M.D. ($20,000). 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.
  18. OXYTOCIN TREATMENT IN MAGEL2 DEFICIENT MICE (YEAR 2). Francois Muscatelli, Ph.D., INSERM ($86,450). 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}

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2016 Board of Directors

  • Daniel Chorney
  • Jeannine Kowal
  • Dana Capobianco
  • Brian Dula
  • Mark Greenberg
  • Jessica Howard
  • Keegan Johnson
  • Shawn Johnson
  • Tanya Johnson
  • David Pfeiffer
  • Jeff Porter
  • Lauren Roth
  • Alicia Secor
  • Jason Waldrop
  • Alice Viroslav
  • Executive Director,
    Susan Hedstrom

Our Research Team



Research Programs



Translational Programs



Associate Director
Research Programs