We are pleased to announce the recipients of our second round of grants for 2025, totaling $925,117 in awards, as part of the Foundation for Prader-Willi Research’s (FPWR) ongoing commitment to advancing innovative research and bold initiatives in Prader-Willi syndrome (PWS) and Schaaf-Yang syndrome (SYS).These new grants will support vital research efforts, providing fresh insights into PWS- and SYS-related biology and accelerating the development of potential therapies and interventions.
Earlier this year, FPWR awarded an additional $1,198,949 in its first round of 2025 funding, bringing the total research investment for 2025 to more than $2.1 million across 16 research projects. Together, these projects represent meaningful progress toward our shared goal—improving the lives of individuals with PWS and SYS through scientific discovery and therapeutic development.
In the recorded presentation below, Dr. Theresa Strong provides an overview of the 7 newly funded projects, each poised to make a significant impact in the field of PWS and SYS research. You can watch the full update or use the links provided to jump to specific project descriptions.
FPWR Research Grant Recipients, Fall 2025
- MAPPING THE GENETIC AND REGULATORY ARCHITECTURE OF THE 15q11-a13 REGION TO IDENTIFY NEURODEVELOPMENTAL MECHANISMS FOR PRADER-WILLI SYNDROME. Jamal Williams, PhD, SUNY Buffalo. The two main goals of this project are to use advanced genetic analysis to identify specific genetic variants within the PWS region that impact brain structure in typically developing children, and to investigate how the 3D structure of DNA within the PWS region affects the activity of these genes during brain development. Learn more about this project >>
- SPATIAL TRANSCRIPTOMICS OF THE MINIMAL CRITICAL REGION OF THE PWS LOCUS IN THE HUMAN HYPOTHALAMUS AND CEREBELLUM. Claudia Doege, PhD, Columbia University Medical Center. Dr. Doege’s group will use novel, cutting-edge technology to examine how the PWS-region genes are expressed in the human brain, focusing on the regions that are critical for controlling feeding related behaviors. This approach will provide a high resolution understanding of where the PWS critical genes are normally expressed in the brain. Learn more about this project >>
- ANALYSIS OF MITOCHONDRIAL DEFECTS IN PWS-UPD INDIVIDUALS WITH AUTISM. Larry Reiter, PhD, Tulane University. Children with PWS also have a higher-than average incidence of autism, especially those with PWS due to uniparental disomy (UPD). Dr. Reiter’s group has shown that cells from with PWS-UPD plus autism also have changes in their mitochondria. Here, they will use new tools to assess mitochondrial location, activity and density over time in neurons from individuals with PWS and typical controls. Using currently available drugs, they will test the whether the mitochondrial defects in cultured neurons can be reversed. Learn more about this project >>
- CHOLINERGIC CONTROL IN PRADER-WILLI SYNDROME - EXPLORING A NEW ROUTE FOR THERAPY (Year 2). Estefania Azevedo, PhD, Medical University of South Carolina. Based on previous research, Dr. Azevedo believes that disrupted acetylcholine (ACh) signaling in the brain may be a key factor contributing to the symptoms of PWS. In this project, she will study how the loss of the PWS-associated gene, MAGEL2, affects ACh activity in a certain part of the brain (lateral septum), and whether boosting ACh can improve behavior in PWS mice. Learn more about this project >>
- NON-INVASIVE STIMULATION OF BDNF PRODUCTION IN THE HYPOTHALAMUS TO REGULATE SATIETY SIGNALLING. Daniel Whitcomb, PhD, University of Bristol. Lower levels of a specific growth factor (brain derived neurotrophic factor, BDNF) have been reported in people with PWS. Because BDNF is important in brain development and function, as well as appetite regulation Dr. Whitcomb’s group will test whether using an ultrasound technique in rodents can enhance the amount of BDNF protein in the hypothalamus and modify eating behavior. Learn more about this project >>
- INVESTIGATING THE EFFECT OF TARGETING SMCHD1 IN A WHOLE LOCUS DISRUPTION MODEL OF PWS. Marnie Blewitt, PhD, WEHI. Dr. Blewitt has been working on a gene therapy approach for PWS that targets a factor called SMCHD1, which normally switches off the PWS genes. Here, her group will test whether removing SMCHD1 allows the PWS-regions genes to be expressed and improve symptoms in a PWS mouse model with an imprinting center deletion. Learn more about this project >>
- AN ARTIFICIAL INTELLIGENCE PROGRAM TO DETERMINE THE NUTRITIONAL PHASE OF PWS. Dan Driscoll, MD, PhD, University of Florida. Individuals with Prader-Willi syndrome (PWS) go through 6 nutritional phases (NPs), but investigators need a standard method of determining the correct NP. Dr. Driscoll has developed an NP questionnaire and an Artificial Intelligence (AI) model to accurately classify the NP in people with PWS, which may lead to a better understanding of PWS and help guide future research and therapies. Learn more about this project >>
FPWR Research Grant Recipients, Spring 2025
- UNRAVELING THE MECHANISMS OF CHOLINERGIC NEURONAL IMPAIRMENT IN INDIVIDUALS WITH PRADER-WILLI SYNDROME. Chun-Xia Yi, PhD, University of Amsterdam Medical Center. Learn more about this project >>
- TRANSCRIPTOME-WIDE IDENTIFICATION AND FUNCTIONAL ANNOTATION OF PWS-ENCODED SNORD TARGETS (YEAR 2). Chuan He, PhD, The University of Chicago. Learn more about this project >>
- INVESTIGATING THE ROLE OF SNORD116 IN RIBOSOME BIOLOGY (YEAR 2). Amanda Whipple, PhD, Harvard University. Learn more about this project >>
- DECIPHERING THE MOLECULAR MECHANISMS OF NEURONAL DEVELOPMENT DEFICITS IN PRADER-WILLI SYNDROME: INSIGHTS INTO HYPOTHALAMIC DYSFUCTION. Derek Tai, PhD, Massachusetts General Hospital. Learn more about this project >>
- NEUROVASCULAR PLASTICITY AS A MOLECULAR DRIVER OF PWS. Marc Schneeberger Pane, PhD, Yale University. Learn more about this project >>
- ASSESSING DGKK DYSREGULATION IN PRADER-WILLI SYNDROME. Herve Moine, PhD, Institute of Genetics and Molecular and Cellular Biology. Learn more about this project>>
- MCH NEURON DYSREGULATION IN THE PATHOPHYSIOLOGY OF PRADER-WILLI SYNDROME (YEAR 2). Ramalingam Vetrivelan, PhD, Beth Israel Deaconess Medical Center. Learn more about this project >>
- INVESTIGATION OF MAGEL2 EXPRESSION PATTERNS IN A NOVEL RAT MODEL FOR SCHAAF-YANG SYNDROME. Ferdinand Althammer, PhD, Heidelberg University Institute of Human Genetics. Learn more about this project >>
- DEFINING ISOFORM DIVERSITY CONSISTENT BETWEEN THE BRAIN AND BLOOD, RELATED TO THE SEVERITY OF PRADER-WILLI SYNDROME. David Godler, PhD, Murdoch Children’s Research Institute. Learn more about this project >>
