Home > Research Priorities

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

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

Genetics and Imprinting

  • Use of advanced technologies to define and characterize the contribution PWS-region genes, including noncoding RNAs and protein coding genes, to the PWS phenotype
  • Studies to advance the understanding of the imprinting phenomenon and gene regulation in the PWS critical region
  • Studies to evaluate pharmacological and/or genetic approaches to selectively activate gene expression in the region, or replace gene function
  • Studies to characterize alterations in RNA/protein expression and function in PWS model systems

Obesity and Energy Balance in PWS

  • Application of advanced neurobiology techniques to understand the basis of hyperphagia and lack of satiety in PWS, with a focus on defining therapeutic targets
  • 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
  • Development and clinical evaluation of novel therapeutic interventions for hyperphagia

Neurobiology of PWS / Hypothalamic Dysfunction

  • Evaluation of abnormalities from the organ level to the cellular and molecular level, using imaging, models, and tissue from individuals with PWS
  • Development and evaluation of novel therapeutic interventions

Clinical Issues in PWS

  • Investigation of GI issues including gastroparesis in PWS individuals or appropriate models
  • Characterization of sleep disturbances, seizures, scoliosis, osteoporosis, endocrine dysfunction, hypotonia and other clinical problems that significantly impact quality of life
  • Evaluation of therapeutic interventions to address these clinical problems
  • Investigation of aging-related problems in PWS

Models of PWS

  • The use of relevant animal and cellular models to understand abnormalities in neurobiology, metabolism, behavior and development in PWS
  • Manipulation of existing rodent models to mimic extreme appetite and obesity, and to develop and evaluate therapeutic interventions for PWS
  • Use of cells or tissues derived from animal models of PWS to explore molecular and cellular changes in PWS
  • Development of novel models of PWS

Psychiatric Disorders and Behavioral Problems in PWS

  • Studies to understand the genetic underpinnings of psychiatric illness in PWS
  • Studies to define early markers/triggers of mental illness, and develop and evaluate early interventions to mitigate mental health problems
  • Studies to understand and treat autism, obsessive compulsive symptoms, anxiety and depression in PWS
  • Approaches to reduce family stress

Learning Disabilities / Early Intervention

  • Development and evaluation of methods to overcome learning disabilities common in PWS
  • Development and evaluation of early intervention strategies

Resource Development

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