Projects Archive - Foundation for Prader-Willi Research | Obesity and Energy Balance

Pancreatic and neuro-endocrine cell secretory pathway deficits in PWS

Many advances in recent years have added to our understanding of the genetic causes of PWS, including recognition of it as a disorder of genomic imprinting involving defective genes that normally only function after inheritance from the father. At least a dozen genes appear to contribute to the many clinical problems seen in PWS. Unfortunately the false

Nutritional aspects of Prader-Willi syndrome and childhood obesity: correlation of plasma orexin levels with nutritional phases

Early in infancy, babies with Prader-Willi syndrome (PWS) have no interest in feeding manifested by lack of crying for food and failure-to-thrive requiring assisted feeding with a G-tube, NG tube, or cross-cutting of bottle nipple (phase 1a). There is then a series of transition through five nutritional phases, ending in the classic PWS false

Generating a novel model of ghrelin-null Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by a lack of muscle tone at birth, a failure to thrive in infancy, and mild learning disabilities.   On emerging from infancy, children with PWS show reduced skeletal growth and an insatiable appetite, which, when combined with an obsession with food, results in obesity.   false

A pig model of PWS: a breakthrough for obesity, clinical and therapeutic studies

Overcoming the severe drive to overeat and obesity that provides the greatest threat to life expectancy and life quality is of upmost and crucial importance for PWS individuals and families. Despite advances in understanding the genetic causes of PWS and the establishment of different mouse models that mimic some clinical components, the false

Role of Kiss1 neurons in mediating grhrelin’s effect on effect on reproduction and metabolism (year 2)

Prader-Willi syndrome (PWS) is a genetic disorder characterized by impairment of a myriad of physiological systems including growth, development, metabolism and reproduction. Although the physiological deficits observed in individuals with PWS come to be well-recognized, the mechanisms and/or cause for the generation of these characteristics are false

Characterization of skeletal muscle abnormalities in mouse models of Prader-Willi syndrome: Functional role of Necdin?

One of the major clinical problems of patients with PWS is decreased muscle tone and muscle weakness leading to delayed gross motor milestones and additional clinical problems (e.g. scoliosis) later in life.  Interestingly, there is significant lack of knowledge regarding the underlying abnormalities of skeletal  Muscle in patients with PWS, nor false

The relationship between serum brain-derived neurotrophic factor (BDNF) levels, BDNF haplotypes and neurocognitive performance in children with PWS

Prader-Willi Syndrome (PWS) is a genetic disease characterized by failure to thrive and low muscle tone during infancy, followed by food-seeking and severe obesity in childhood. Other manifestations include altered pain perception, cognitive impairment, maladaptive behaviors (obsessive compulsive, temper tantrums, skin picking, rigid thinking and false

Exenatide: A potential treatment for hyperphagia and obesity in persons with Prader-Willi syndrome

Prader-Willi Syndrome (PWS) is a condition characterized by growth hormone deficiency, hypogonadism, various behavioral disturbances, an insatiable hunger drive and excessive eating leading to life-threatening obesity. The specific causes of the disturbed eating behavior in persons with PWS remain unknown. More importantly, effective therapies for false

The role of the midbrain dopaminergic reward circuitry in ghrelin's effects on food intake and body weight

Prader-Willi Syndrome is a disorder characterized by numerous medical conditions, including excessive eating, low metabolic rate, growth hormone deficiency, hypogonadism and various cognitive deficits. In fact, obese individuals with PWS are described as having a nearly constant state of hunger, which manifests in various maladaptive feeding false

Endocrine and molecular basis for Prader-Willi syndrome

Despite years of study, we do not yet know the basis of Prader-Willi syndrome (PWS), either the roles of the genes defective in PWS or the basis of the clinical features. Many people think the hypothalamus, a small brain region controlling appetite and many endocrine functions is solely responsible, yet this may not be the single cause and using a false

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