FPWR Proudly Awards $1.1 M to Promising Science in PWS

The Foundation for Prader-Willi Research (FPWR), is pleased to announce the awarding of $1.1 million in research grants in its second round of grant funding for 2015.  A portfolio of 12 grants from leading researchers around the world was selected, which will advance the science of PWS and develop novel therapies for those impacted by the disorder.

 FPWR funds will support projects to define the basic molecular mechanisms underlying PWS, to develop novel drugs for hunger, to test whether existing drugs can be repurposed to treat PWS, and to evaluate both medical and nonmedical interventions to improve the lives of those with PWS in the short term. Individual project titles with links to their abstracts have been included below.

"We're thrilled to support an outstanding portfolio of research projects that span the spectrum of translational research for PWS. By advancing projects that have significant long term implications as well as those that will have immediate impacts on individuals with PWS, we hope to improve outcomes now, as we work to advance the next generation of therapies, " stated Director of Research Programs, Dr Theresa Strong.

The funded projects will be conducted at prestigious institutions such as the University of Cambridge, Johns Hopkins University, UC Davis and Royal Children's Hospital, Australia. For a detailed list of the newly funded projects and their potential impact, please visit the FPWR Funded Projects page.

With this new round of funding, FPWR has provided more than $6 million in PWS research funding to support nearly 100 research projects since 2003. "We continue to see the number of outstanding applications submitted to FPWR's grant program grow" says Jessica Bohonowych, Associate Director of Research Programs. "We are encouraged by the innovative approaches represented to advance our understanding of the disorder and develop and test new treatments."

This second round of grants brings the Foundation's total funding for the year 2015 to over $1.8M.


 
 

Funded Grants

RNA TARGETS OF SNORD116.  Tomaz Bratkovic , PhD, University Ljubjana, Slovenia ($41,256) Loss of the SNORD116 genes on chromosome 15 appears to be critical for the development of PWS, and, to date, how they normally work is poorly understood.  Dr. Bratkovic will apply a novel technology to understand the function of this unusual class of genes.

CHARACTERISATION OF ANTI-GHRELIN AUTOANTIBODIES IN PRADER-WILLI SYNDROME Lisa Chopin, DVM, PhD, Queensland University of Technology, Australia ($107,967).  Dr. Chopin’s studies suggest individuals with PWS may have antibodies to ghrelin that contribute hunger.  Here she will study those antibodies in depth and determine whether they are contributing to increased appetite  (Funded by FPWR Canada)

EVALUATING THE PARENT-FOCUSED REMOTE EDUCATION TO ENHANCE DEVELOPMENT (PRETEND) PROGRAM IN PWS. Anastasia Dimitropolis, PhD, Case Western Reserve University ($75,586) – this project will focus on an educational program to optimize play between young children with PWS and their parents.

OXYTOCIN AND THE AUTONOMIC NERVOUS SYSTEM IN PRADER WILLI SYNDROME. Stewart Einfeld, PhD, University of Sydney ($195,050)  Dr. Einfeld will team with experts in oxytocin and the autonomic nervous system to investigate disruptions in PWS and lay the groundwork for informative clinical trials.

METHYLATION TEST VALIDATION FOR COMBINED PRADER-WILLI AND FRAGILE X SYNDROME NEWBORN SCREENING. David Godler, PhD, Royal Children’s Hospital, Australia ($100,950).  Dr. Godler is developing a cost-effective test to be incorporated into newborn screening, which should allow accurate and early diagnosis of all babies with PWS.

ROLE OF MELANIN CONCENTRATING HORMONE IN AN ANIMAL MODEL OF PRADER-WILLI SYNDROME.  Michiru Hirasawa DVM, PhD, University of Newfoundland.. ($63,000) This study will examine whether a brain chemical that normally helps control hunger is disrupted in a mouse model of PWS. (Funded by FPWR-Canada)

PROOF OF CONCEPT STUDY OF VAGUS NERVE STIMULATION FROM AN EXTERNAL DEVICE IN PRADER WILLI SYNDROME.  Tony Holland, MD, University of Cambridge ($104,492).  Dr. Holland did a small pilot study on the use of VNS in PWS, and found an unexpected beneficial effect on behavior.  Here he will expand the study, using a noninvasive device, and measure effects on behavior.

DEVELOPMENT AND VALIDATION OF GHRELIN O-ACYLTRANSFERASE INHIBITORS FOR TREATING HYPERPHAGIA IN PWS.  Jim Hougland, PhD, Syracuse University ($75,600) Dr. Hougland is continuing studies to develop a novel class of drugs that disrupts ghrelin in PWS.  In the second year, he will optimize the inhibitors and test them in cells.

RAPAMYCIN TREATMENT TO CORRECT THE CIRCADIAN MTOR IMBALANCE IN THE SNORD116 DELETION MOUSE MODEL OF PWS.  Janine LaSalle, PhD, University of California, Davis ($72,989).  Dr. LaSalle has identified a defect in circadian rhythm genes in PWS.  Here she will see if a common drug, rapamycin, can correct that defect in a mouse model.

INVESTIGATING NEURAL DEVELOPMENT IN AN INDUCED PLURIPOTENT STEM CELL MODEL OF PRADER-WILLI SYNDROME.  Guo-Li Ming MD, PhD, Johns Hopkins Univeristy ($108,000).  The Ming laboratory studies the characteristics of neurons derived from individuals with mental illness, examining changes at the cellular level.  They will derive neurons from the skin cells of individuals with PWS and examine whether there are characteristic cellular changes.

ACTIVATION OF SILENCED GENES IN PRADER-WILLI SYNDROME. Rob Nicholls, PhD, University of Pittsburgh. ($108,000)  This project will use cutting edge CRISPR technology to evaluate the feasibility of activating the silenced genes in the PWS region. Successful completion of the goals will be a first step to genetic therapy.

GENE EXPRESSION ANALYSIS IN PWS SUBJECT DERIVED DENTAL PULP STEM CELL NEURONS.Lawrence Reiter, PhD, University of Tennessee Health Sciences ($108,000)  Dr. Reiter has expertise in disorders of chromosome 15, including chromosome 15 duplication syndrome.  He will study neurons derived from ‘baby teeth’ from PWS and other 15q disorders, to identify genetic changes that might be contributing to features of autism in PWS.

 

To view grants announced from our first cycle earlier this year, please visit:  http://www.fpwr.org/fpwr-funded-projects-first-round-of-2015/

Topics: Research

Susan Hedstrom

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Susan Hedstrom is the Executive Director for the Foundation for Prader-Willi Research. Passionate about finding treatments for PWS, Susan joined FPWR in 2009 shortly after her son, Jayden, was diagnosed with Prader-Willi Syndrome. Rather than accepting PWS as it has been defined, Susan has chosen to work with a team of pro-active and tireless individuals to accelerate PWS research in order to change the natural history of PWS. Inspired by her first FPWR conference and the team of researchers that were working to find answers for the syndrome, she hosted her first One SMALL Step walk in 2010 and began the development of the One SMALL Step walk program which now raises over $1.5 million a year for PWS research.

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