The Foundation for Prader-Willi Research (FPWR) announces a the funding of 11 Research Awards totaling more than $1,000,000. FPWR is dedicated to supporting research that advances the understanding and treatment of Prader-Willi syndrome (PWS) and related disorders and to that end, has awarded nearly $12,000,000 in research funding since 2003.
“We’re very excited about FPWR”s newly funded research projects, which will provide critical knowledge about PWS and advance innovative, new therapies for our community”, said Dr. Theresa Strong, Director of Research Programs. “We are thrilled to be supporting a broad array of proposals, which span the research and development spectrum.”
On a recent webinar, Dr. Theresa Strong reviewed each of the 11 funded grants, sharing why we're excited about them and what their potential long term contribution could be. You can watch the full 30-minute webinar here or use the links below to watch short 1-2 minute segments on each specific project.
FPWR PWS Research Grant Recipients, Fall 2018
Cannabinoid-1 Receptor Blockade to Treat Hyperphagia, Obesity and Related Metabolic Disorders in PWS
Francois Ravenelle, PhD., Inversago
This grant supports Inversago’s preclinical development of a new drug to tackle hunger and obesity with PWS. This drug targets the endocannabinoid pathway, which is known to be altered in PWS. Unlike previous drugs that targeted the same pathway, this modified version does not enter the brain – thus it is expected to have a beneficial effect on metabolism and weight without psychiatric side effects. This funding will support ‘preclinical’ studies needed to move the drug into human clinical trials. [Funded in part by a gift from the Storr Family Foundation] Learn More >>
Identification of Critical Periods for the Neurodevelopmental and Behavioral Effects of Oxytocin
Sebastien Bouret, Children’s Hospital of Los Angeles and Francoise Muscatelli, INSERM, France
This grant brings together two PWS researchers with complementary expertise to work together using mouse models of PWS to define the critical period during which oxytocin might provide the maximum biological effect and impact. The goal is to develop the optimal therapeutic strategy for oxytocin in PWS. Learn More >>
Assessment of Epigenetic Driven Circadian Rhythm Defects in Neurons from Individuals with PWS
Larry Reiter, PhD. University of Tennessee Health Sciences Center
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 the how circadian rhythms are disrupted in PWS cells, and pave the way for identifying new drugs to normalize circadian rhythm. Learn More >>
Understanding the Role of Microglia in the Prader-Willi Hypothalamus
Deborah Kurrasch, PhD. University of Calgary
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. Learn More >>
Design and Implementation of Hypothalamus-Specific Exosomes to Restore SNORD116 Deletion in PWS
Richard Lee, PhD., Johns Hopkins
Dr. Lee’s group is exploring the use of a novel gene transfer vehicle, exosomes, to deliver missing portions of the PWS genes to the hypothalamus. In this pilot study, they seek to develop PWS-specific exosomes and test how well these can deliver genes to neurons and other cells. Learn More >>
Generation of Non-Human Primate Models of Prader-Willi Syndrome
Juan Carlos Izpisua Belmonte PhD, Salk Institute
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 primate model. This project represents the first steps towards developing a primate (macaque) model of PWS. Learn More >>
Newborn Screening for Prader Willi and Angelman Syndromes: A Feasibility Study on 75,000 Newborns
David Godler, PhD, Murdoch Children’s Research Institute
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. His group will screen 75,000 newborn blood spots to validate the assay so that it might be incorporated into newborn screening – providing early diagnosis and optimal care for babies with PWS. A newborn screening test will also provide true incidence figures for PWS. With co-funding with the Angelman Syndrome Foundation and the Victorian Medical Research Acceleration Fund. [Funded in part by a gift from the Storr Family Foundation] Learn More >>
Chronic Stress, Cognition, and Food Cue Reactivity in PWS: A Magnetoencephalography Study
Jill Hamilton, MD, Hospital for Sick Children, Toronto
This study will use advanced brain imaging technology and 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 neuropsychological performance in PWS, and provide a foundation for the development of effective therapies to manage feeding behavior and chronic stress. Learn More >>
Acceptance and Commitment Training (Act) to Reduce Stress in Fathers of Adolescents with PWS
Jan Forster, MD, PLEA
Families of those with PWS experience a great deal of stress, particularly during adolescence. Dr. Forster will work with fathers of adolescents with PWS using an established program to teach healthy coping skills. The goal is for father to be less stressed and more engaged, thereby improving the overall functioning and well being of the entire family. Learn More >>
Cannabidivarin (CBDV) vs. Placebo in Children with Prader-Willi Syndrome (PWS)
Eric Hollander MD, Albert Einstein College of Medicine
Dr. Hollander’s group will investigate a form of cannibidiol cannabidivarin, or CBDV, a non-psychoactive drug that has anti-inflammatory, antioxidative, neuroprotective, anti-anxiety and anticonvulsant properties. They will perform a clinical trial comparing CBDV to placebo in children and young adults with PWS, evaluating irritability, restricted/repetitive behaviors, hyperphagia, and caregiver quality of life. Learn More >>
Guanfacine XR ror Aggression and Self Injury in PWS- A Double Blind Placebo Controlled Trial
Deepan Singh, MD NYU Winthrop Hospital
Guanfacine XR (brand name Intuniv) is a medication for ADHD that improves impulse control. Dr. Singh has noted improvements in aggression and self-injury in PWS patients in his practice when using this medication. Here, he will perform a pragmatic clinical trial to evaluate the efficacy of guanfacine for treating these aspects of PWS, and also evaluate the safety and tolerability of the medication in the PWS population. Learn More >>
