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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 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 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 protein coding genes and snoRNAs, to the PWS phenotype; studies to advance our understanding of the imprinting phenomenon in the PWS critical region; to evaluate pharmacological and/or genetic approaches to alter gene expression in the region; to understand how inactivation of genes of the PWS region leads to the phenotype; and to characterize alterations in RNA and protein expression and function in PWS model systems.

Obesity and Energy Balance in PWS

Studies directed at 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 and evaluation of innovative therapeutic interventions.

Clinical Issues in PWS

Studies to understand hypotonia and its role in PWS clinical features; characterization of endocrine dysfunction in PWS; investigation of GI issues including gastroparesis; 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.

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 mouse models to mimic extreme appetite and obesity, to understand ghrelin:gut interactions, 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; define early markers/triggers of mental illness, develop and test early interventions to mitigate mental health problems; autism and PWS; obsessive-compulsive symptoms associated with PWS. 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 research community.