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

  • Use of advanced technologies to define and characterize the contribution of PWS-region genes, including noncoding RNAs and protein coding genes, to the PWS phenotype
  • Studies to characterize alterations in gene regulation, RNA/protein expression and function in PWS model systems
  • Use of cells or tissues derived from animal and cellular models of PWS to explore molecular and cellular changes, and to understand abnormalities in neurobiology, metabolism, behavior and development in PWS
  • Phenotypic characterization of PWS cellular models, in particular PWS iPSCs available at:

Neurobiology of PWS pathology and phenotype (emphasis on hyperphagia)

  • Application of advanced neurobiology techniques, including brain imaging technology, to understand the basis of hyperphagia and lack of satiety in PWS, with a focus on defining therapeutic targets
  • Development of objective biomarkers of hyperphagia
  • Studies to understand how failure to thrive progresses to hyperphagia during development
  • Studies to define and normalize alterations in hunger/satiety hormones and energy balance in PWS
  • Manipulation of existing rodent models to mimic extreme appetite and obesity, to develop and evaluate therapeutic interventions for PWS
    • *Note: FPWR has a novel MAGEL2 deficient rat model available for study

Cognition, maladaptive behavior and mental illness in PWS

  • Use of cellular models of PWS, animal models, and patients, including imaging studies  – to understand developmental delay, intellectual disability, maladaptive behaviors, autistic behavior, anxiety, depression and psychosis in PWS
  • Studies to understand the genetic underpinnings of psychiatric illness in PWS
  • Studies to define early markers / triggers of mental illness
  • Development and evaluation of novel therapeutic interventions to mitigate mental health problems
  • Approaches to reduce family stress

Clinical Care Research 

  • Characterization of significant clinical issues in PWS [eg, sleep disturbances, hyperphagia, gastroparesis, seizures, scoliosis, osteoporosis, hypotonia, endocrine dysfunction, anxiety and other clinical problems that impact quality of life]
  • Evaluation of therapeutic interventions to address these clinical problems – existing pharmaceutical interventions, behavioral approaches, diet, supplements, devices, etc.
  • Investigation of aging-related issues in PWS
  • Development and evaluation of methods to overcome learning disabilities common in PWS
  • Development of new standards of care

Therapeutics Development – Epi/Genetic Therapies 

  • Proof of concept and feasibility studies to evaluate pharmacological and/or genetic approaches to selectively activate gene expression in the PWS region
  • Studies to develop therapeutics to replace PWS gene function(s), including gene replacement

Therapeutics Development – Device, Pharmacologic Therapy (novel and repurposed drugs) 

  • Development and clinical evaluation of novel or repurposed therapeutic interventions for hyperphagia
  • Development and clinical evaluation of novel or repurposed therapeutic interventions for other clinically significant issues in PWS

Resource Development

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