The Foundation for Prader-Willi Research seeks to stimulate research that will improve the lives of individuals with PWS and SYS in the near term; thus, we are particularly supportive of research to develop and evaluate new therapeutic approaches and interventions for PWS and SYS. We also are interested in supporting innovative research that will lead to significant advances in the understanding of these disorders.

All scientifically meritorious research related to PWS and SYS will be considered, but areas of particular interest include:

Genetics: Genotype to Phenotype

  • Define and characterize the PWS-region genes, specifically those necessary to cause or sufficient to correct the PWS phenotype (areas of greatest clinical impact include hyperphagia, metabolism, cognition, mental health, and development)
  • Determine the impact of molecular subclass and DNA variants outside the PWS region on expression of phenotypic traits

Neurobiology and Metabolism of PWS 

  • Understand the etiology of the progression from failure to thrive to hyperphagia
  • Understand the basis of hyperphagia and lack of satiety in PWS, with a focus on defining therapeutic targets
  • Define and normalize alterations in endocrinology and energy balance in PWS
  • Develop objective biomarkers of hyperphagia

Cognition, Maladaptive Behavior, and Mental Health in PWS

  • Understand developmental delay, intellectual disability, maladaptive behaviors, social cognition, anxiety, depression, and psychosis in PWS, focused on cellular models, animal models, and/or individuals with PWS
  • Identify the genetic underpinnings, predictive markers, and progression of psychiatric illness in PWS
  • Develop and evaluate PWS-relevant objective measures of cognitive challenges
  • Develop and evaluate novel therapeutic interventions to mitigate cognitive, behavioral, and mental health problems

Clinical Care Research 

  • Characterize significant clinical concerns in PWS [e.g., sleep disturbances, hyperphagia, obesity, GI problems, seizures, orthopedic issues, hypotonia, speech, endocrine dysfunction, and other clinical problems that impact quality of life]
  • Evaluate therapeutic interventions to address these clinical problems – existing pharmaceutical interventions, behavioral approaches, diet, supplements, devices, etc.
  • Identify risk factors for morbidity and mortality in PWS
  • Investigate age-related issues in PWS (changes in cognition, mobility, endocrinology, cardiology, respiratory sufficiency, etc.)
  • Develop and evaluate methods to overcome learning disabilities common in PWS

Therapeutics Development – Epi/Genetic Therapies, Pharmacologic Therapy, and Devices 

  • Conduct proof of concept and feasibility studies to evaluate pharmacological and/or genetic approaches to selectively activate gene expression in the PWS region
  • Develop therapeutics to replace PWS gene function(s), including gene replacement
  • Develop and/or evaluate novel or repurposed therapeutic interventions for hyperphagia or other clinically significant issues in PWS

Resource Development

FPWR will also consider supporting the development of unique in vitro, in vivo, and in silico resources and models to be shared with the PWS research community. 

A list of current and commonly used PWS models can be found here.