Projects

Neurobiology of temper outburst behaviours in Prader-Willi syndrome - imaging pilot study

Individuals with Prader Willi Syndrome (PWS) are known to display frequent and severe temper outburst behaviours throughout their life. These behaviours can have a significant impact on the quality of life for the individual and their family. Prader Willi outbursts are reactive explosion of emotion that once provoked the individual has little false

Oxytocin actions of prefrontal cortex circuits in a mouse model of Prader-Willi Syndrome

Mental illness is a major problem in Prader-Willi syndrome (PWS). It prevents social interactions and seriously threatens the quality of life of the patient and of those around the patient. Mood swings, stereotyped repetitive behaviors, psychotic episodes are dependent on proper functioning of brain regions such as the prefrontal cortex. Activity false

Unraveling the developmental neurobiology of PWS: a cross-sectional brain imaging study

Prader-Willi Syndrome (PWS) is a rare disorder, sharing common genes with autism and schizophrenia; patients with PWS are at very high risk of developing severe psychiatric illnesses and behavioral problems, however, the underlying neurobiology that places them at-risk is yet unknown. Here we propose a cross-sectional, multi-faceted brain imaging false

Functional Assessment of snoRNA derived microRNAs in Prader-Willi Syndrome

Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder, predominantly caused by a deletion on the long arm of chromosome 15. This deletion eliminates a group of genes called HBII-85 whose function is currently unknown. Therefore, this proposal aims to investigate the underlaying molecular mechanisms behind the loss of HBII-85 and how this false

Targeting the peripheral endocanniabinoid system for the treatment of obesity in a mouse model of PWS

Extreme obesity is one of the major health problems related to Prader-Willi syndrome (PWS), yet there are few effective medications. Endocannabinoids (eCBs) are lipid signaling molecules that act on a cellular receptor, called the CB1 receptor. This receptor is present in the brain and in peripheral tissues, where it also recognizes the false

Osteoporosis in individuals with PWS and the role of vitamin D receptor

Prader-Willi syndrome is a multisystem disorder due to absence of paternally expressed imprinted genes at 15q11.2-q13. Diminished bone mineral density (BMD) and osteoporosis are common in PWS individuals, especially in adolescence and adulthood. The reasons for the increased prevalence of osteoporosis in PWS are not totally clear, but decreased false

Evidence based approach to dietary management of PWS

Prader-Willi Syndrome (PWS) is a genetic disease characterized by failure to thrive and low muscle tone during infancy, followed by food-seeking, insatiable appetite and progressive obesity in childhood. The resulting increases in total body fat and decreases in muscle mass lead to metabolic problems such as diabetes and heart disease. Several false

Allele specific regulation of SNORD116 in PWS

Prader-Willi Syndrome (PWS), a complex genetic disorder that results from a failure to inherit a normal copy of the father’s chromosome 15. Key genes on the paternal chromosome are deleted, but how the deletion of this region leads to PWS is a complete mystery. In PWS, a normal copy of the mother’s chromosome 15 is inherited, but the genes are false

The role of the prefrontal cortex in PWS hyperphagia

Among the many complications of Prader-Willi Syndrome (PWS), the increased food intake (hyperphagia) has serious long-term medical consequences. The goal of this proposal is to define novel brain regions that may contribute to this problem. Studies of brain activity suggest that the prefrontal cortex might be different in PWS patients. This is an false

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