Projects Archive - Foundation for Prader-Willi Research | Resource Development

Genomewide identification of mRNA sites of 2’-O methylation targeted by SNORD116 snoRNAs

Funding Summary While we know the loss of SNORD116 (a gene that encodes many snoRNA molecules on Chromosome 15) leads to characteristics of PWS, we do not know how this exactly works. We need to understand how SNORD116 functions normally in order to understand why the loss of this region leads to PWS. It is likely that the snoRNAs in the SNORD116 false

Assessment of Epigenetic Driven Circadian Rhythm Defects in Neurons from Individuals with PWS

Funding Summary Dr. Reiter is analyzing neurons, made from stem cells from individuals with PWS.  He has noted disruptions in the circadian rhythm of these cells (day/night cycle) that may reflect sleep problems in PWS.  His work will identify how the circadian rhythms are disrupted in PWS cells, and pave the way for identifying new drugs to false

Identification of Critical Periods for the Neurodevelopmental and Behavioral Effects of Oxytocin

Funding Summary This grant supports a new collaboration between two scientists with complimentary expertise. Drs. Sebastian Bouret and Francoise Muscatelli will work to define critical periods for oxytocin use in PWS models, and optimize this therapeutic approach. Mouse models will be used to define the critical period during which oxytocin might false

Understanding the Role of Microglia in the Prader-Willi Hypothalamus

Funding Summary Dr. Kurrasch is studying whether inflammation in the brain, mediated by special immune cells called microglia, might contribute to hyperphagia and obesity in PWS. Using a mouse model of PWS, she will examine microglia activity and explore whether eliminating microglia improves energy regulation. Funding provided by FPWR – Canada.

Newborn Screening for Prader-Willi and Angelman Syndromes

Funding Summary Universal newborn screening for PWS will ensure that all babies with PWS are diagnosed at birth. Dr. Godler has developed a sensitive, accurate and cost-effective DNA test for detection of PWS and Angelman syndrome using the bloodspots (“heelprick”) obtained in all newborns.  In the study, FPWR is collaborating with with the false

Generation of Non-Human Primate Models of PWS

Funding Summary This project takes the first steps towards developing a primate (macaque) model of PWS. Animal models of PWS are currently limited and are not able to replicate some important aspects of PWS, such as intellectual disability, as well as behavioral and social impairments. These aspects of PWS may be more effectively studied in a false

Chronic Stress, Cognition, and Food Cue Reactivity in PWS. A Magnetoencephalography Study

Funding Summary This study will combine advanced brain imaging technology with other assessments to examine how hormonal, cognitive, and psychological factors are interrelated in PWS. Results from this study will increase the understanding of how brain regions involved in food intake are related to appetite hormones, hair cortisol, and false

Cannabinoid-1 Receptor Blockade to Treat Hyperphagia, Obesity and Related Metabolic Disorders in PWS

Funding Summary This grant supports the development of a new drug to tackle hunger and obesity with PWS. Inversago, a newly started, specialized biotech company, proposes that its CB1 blockers would treat a wider spectrum of symptoms than anything presently in development for PWS. The drug targets the endocannabinoid pathway, which is known to be false

Pig Models of Prader-Willi Syndrome for Pathophysiologic and Therapeutic Interventions

Overcoming the strong drive to overeat and obesity with negative impacts on life expectancy and life quality is of upmost and crucial importance for individuals with Prader-Willi syndrome (PWS) and their families. Despite advances in understanding the genetic causes of PWS and the establishment of different mouse models that mimic some clinical false

ComuFaces: The perception of communicative faces by infants with Prader-Willi syndrome (year 2)

Neuropsychological studies have detailed several cognitive deficits in Prader-Willi Syndrome (PWS), among which the observation of altered social interactions, with notable difficulty in interpreting and responding to social information. The integration of the information from the face and the voice is important for our social communication as false

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