Projects

Evaluating the Parent-focused Remote Education To Enhance Development (PRETEND) Program in PWS

This project centers on better understanding the social-cognitive characteristics of Prader-Willi syndrome (PWS) in early childhood and providing education and training to parents of children with PWS to optimize learning and joint engagement between parent and child. There are two goals of this research:

Methylation test validation for combined Prader-Willi and Fragile X syndrome newborn screening

ABSTRACT

Activation of silenced genes in Prader-Willi syndrome

The genetic causes of Prader-Willi syndrome (PWS) are known, including as a complex disorder involving imprinted genes that normally only function after inheritance from the father. A dozen genes contribute to the clinical problems in PWS, although what most of these genes do is poorly understood. Additionally, although numerous mouse models that false

Proof of concept study of vagus nerve stimulation from an external device In Prader Willi Syndrome

This proposed proof of concept study follows an earlier trial of vagus nerve stimulation, using a surgically implanted medical device, in three people with PWS to investigate whether such treatment might reduce the over-eating behaviour characteristic of people with PWS. Whilst the effects on eating were equivocal, two of the three participants, false

Investigating neural development in an induced pluripotent stem cell model of Prader-Willi Syndrome

Recent technological developments have ushered in a new era for the medical research field based on our ability to generate stem cells (called induced pluripotent stem cells or iPSCs) out of adult patient cells, such as blood or skin fibroblasts. There are two important benefits of this technology relevant for research into Prader Willi Syndrome false

RNA targets of SNORD116

Current evidence suggests that most Prader-Willi syndrome (PWS) traits result from loss of paternally inherited SNORD116 gene group. SNORD116 belong to a class of small nucleolar RNAs (snoRNAs), which are involved in modification of other RNA species. snoRNAs act as guides to define sites of target RNA modification by partner enzymes. Typically, a false

Oxytocin and the autonomic nervous system in Prader Willi syndrome

Study one: There is a reduction in the number of neurons that produce oxytocin in people with PWS. This, along with a range of other evidence supports the likelihood that abnormalities in the oxytocin system are key to the problems of PWS. However, studies examining the levels of oxytocin in PWS as well as clinical trials evaluating the effect false

Gene Expression Analysis in PWS Subject Derived Dental Pulp Stem Cell Neurons

There are two goals to this study: 1) To identify differences among individuals with PWS and autism from those who have PWS without autism by analyzing gene expression and 2) To identify new patterns of gene expression which may help explain the PWS condition or how other very small molecules that do not make protein (non-coding RNAs) implicated false

Development and validation of ghrelin O-acyltransferase inhibitors for treating hyperphagia in Prader-Willi syndrome

Obesity and insatiable appetite (hyperphagia) are among the most serious symptoms experienced by Prader-Willi syndrome (PWS) patients. While many of the causes underlying PWS symptoms remain unknown, the discovery of the protein hormone ghrelin and its role in controlling appetite has led researchers to investigate the possible role of ghrelin in false

Rapamycin treatment to correct the circadian mTOR imbalance in the Snord116 deletion mouse model of PWS

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with a known genetic etiology, but a complex epigenetic basis.  PWS is an imprinted disorder, meaning that the genes implicated in PWS are expressed only on the paternal but not the maternal chromosome 15q11-13. At the heart of the minimally deleted region in PWS are several processed 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

Characterisation of anti-ghrelin autoantibodies in Prader-Willi Syndrome

Excessive eating (hyperphagia)  is one of the most challenging features of Prader-Willi Syndrome (PWS) and currently there are no medications available for effective appetite regulation. Hyperphagia is most likely to be driven by elevated levels of the appetite-stimulating hormone ghrelin in patients with PWS. The underlying cause of this elevated false

Search Projects

Donate for PWS Research