Projects Archive - Foundation for Prader-Willi Research | Endocrinology/Growth Hormone

Evaluating factors that may affect the efficacy of intranasal oxytocin treatment in PWS

Recent studies with oxytocin treatment in PWS have yielded inconsistent results. Intranasal administration of oxytocin by the Toulouse group decreased disruptive behaviors in patients with PWS, but a recent randomized trial in Australia of adolescents and adults of intranasal oxytocin (IN-OT) found no effect on syndrome-specific behavior in false

Small molecule allosteric modulators of the melanocortin-4 receptor for the treatment of Prader-Willi syndrome

There is some data suggesting that one of the systems that regulates appetite and weight in the brain, the melanocortin-4 receptor pathway, may be disrupted in PWS.  This study will examine a new class of drugs targeting this pathway, in a mouse model of PWS.  The drugs will be tested alone and in combination with other drugs currently being false

Understanding multiple hormone secretion deficits in Prader-Willi Syndrome

Numerous hormone levels are deficient in PWS. However, the underlying biology and how the altered hormone levels contribute to the characteristics of PWS is not well understood. Dr. Nicholls’ group has developed a novel cell culture model system to study how PWS genes regulate hormone production and release. This model system will advance our false

Ghrelin: Is it detrimental, beneficial, or inconsequential in Prader-Willi Syndrome? (year 2)

Ghrelin levels are elevated in PWS, but why, how, and whether it plays a role in hyperphagia or other aspects of PWS are all still unanswered questions. This project will explore if ghrelin plays a protective role in PWS with regards growth hormone deficiency, hypoglycemia and mental health issues, but a detrimental role with regards to extreme false

Oxytocin treatment in Magel2-defcient mice (year 2)

The MAGEL2 gene appears as one of the main genes involved in feeding and behavioral (autistic like behavior) alterations observed in Prader-Willi Syndrome. We showed that, in mouse, the deficiency of Magel2 results in a phenotype similar to the clinical description of patients with mutations in MAGEL2. Indeed, we showed that Magel2-deficient mice false

Role of melanin concentrating hormone in an animal model of Prader-Willi Syndrome

Prader-Willi Syndrome (PWS) is a rare genetic disorder with symptoms that typically include obesity, severe appetite and impaired reproductive function. It is thought that dysfunction of the hypothalamus, a part of the brain that controls body weight and reproduction, underlies some of these symptoms. Our goal is to understand what is false

Regulation of ghrelin and serotonin receptors by SNORD115

The loss of two regulatory RNAs is critical for the development of Prader-Willi syndrome. One of these RNAs prevents the formation of a truncated serotonin receptor. We will test the role of this truncated serotonin receptor in the production of growth hormones and determine whether it is a 'master regulator' for other receptors. Based on our false

Ghrelin: Is it detrimental, beneficial, or inconsequential in Prader-Willi Syndrome?

Plasma levels of the peptide hormone ghrelin are markedly elevated in individuals with Prader-Willi Syndrome (PWS), however the functional consequences of this elevation have not yet been determined, nor are the mechanistic causes of ghrelin elevation known. Many attribute the characteristic, maladaptive PWS eating behaviors directly to ghrelin, false

European PWS blood bank coordinator

Dr. Tauber is leading a European effort to collect blood samples on infants and children with PWS to monitor changes in hormones over time. This funding will support a blood bank recruitment coordinator, who will work to collect clinical data on birth, growth, endocrine functions and feeding behavior in newly diagnosed patients with PWS.

Hypoglycemia in PWS: A prospective study

Prader-Willi Syndrome (PWS) is a complex genetic disorder associated with varied clinical findings, neurocognitive delay, and endocrine abnormalities. Clinically, individuals with PWS progress along a path marked by different nutritional stages. In infancy, children with PWS have hypotonia, poor feeding, excessive daytime sleepiness, and false

Search Projects

Donate for PWS Research