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 directly developing and evaluating new therapeutic approaches to PWS.  We also are interested in supporting innovative research that will lead to significant advances in our understanding of this disorder.

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

Genetics and Imprinting
Use of advanced technologies to define and characterize targets of the PWS-region snoRNAs; understanding the imprinting phenomenon in the PWS critical region; evaluating pharmacological and/or genetic approaches to alter gene expression in the region; understanding how inactivation of genes of the PWS region leads to the phenotype; characterizing alterations in RNA and protein expression in PWS model systems.

Obesity and Energy Balance in PWS
Understanding the basis of hyperphagia and lack of satiety in PWS using advanced neurobiology techniques, with a focus on defining therapeutic targets.  Understanding how failure to thrive progresses to hyperphagia during development; energy balance in PWS; alterations in hunger/satiety hormones relevant to PWS; and development and evaluation of therapeutic interventions. 

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 of innovative therapeutic interventions.

Clinical Issues in PWS
Understanding hypotonia and its role in PWS clinical features; characterization of endocrine dysfunction in PWS; understanding GI issues; characterization of sleep disturbances, seizures, scoliosis, osteoporosis, 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.

Animal Models of PWS
The use of relevant animal models to understand abnormalities in neurobiology and neuroanatomy, metabolism, behavior and development in PWS.  Manipulation of existing mouse models to mimic extreme appetite and obesity, and to understand ghrelin:gut interactions; evaluation of therapeutic interventions for PWS in animal models (including cell-based assays).

Psychiatric Disorders and Behavioral Problems in PWS
Understanding the genetic underpinnings of psychiatric illness in PWS; defining early markers/triggers of mental illness, developing early interventions to mitigate mental health problems; autism and PWS; obsessive-compulsive symptoms associated with PWS; development of therapeutic interventions.  Approaches to reduce family stress. 

Learning Disabilities / Early Intervention
Evaluation of methods to overcome learning disabilities common in PWS, development and evaluation of early intervention approaches.

Resource Development                                                                                                                                                                       

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