Under the guidance of our Scientific Advisory Board through a carefully managed grants process, FPWR selects research projects based on the collaborative input of researchers and parents, choosing projects that are both scientifically meritorious and highly relevant for individuals with PWS and their families.

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Miniaturization of the PWS-domain for AAV-based genetic therapy in Prader-Willi syndrome (PWS)

Funded Year: 2021

In this project, Dr. Nicholls will begin studies towards an innovative gene therapy strategy for PWS, by developing a single adeno-associated virus (AAV)-vector that incorporates up to 80% of the PWS genes. This project will generate miniaturized components from the PWS genes and build an AAV vector carrying eight PWS genes. Delivery and...

Elucidating PWS pathophysiology in patient derived 3D human cortical organoids

Funded Year: 2021

In this project Dr. Lodato will use stem cells from PWS patients to generate human 3D cortical organoids (a ‘minibrain in a dish’). Human cortical organoids are valuable models that mimic aspects of human brain development, and analysis of these organoids is expected to shed light on how brain development in PWS differs from that in typical...

Analysis of Delayed Neural Development in PWS DPSC Neurons

Funded Year: 2021

Dr. Reiter’s previous studies suggest that PWS neurons exhibit delayed maturation compared to neurons from typical individuals. Here, his team will use RNA sequencing during neuronal differentiation to better understand the molecular basis of the developmental delay and identify new targets for therapeutic interventions. His team will also...

The role of oxytocin receptor-expressing astrocytes in Schaaf-Yang syndrome and Prader-Willi syndrome

Funded Year: 2021

Prader-Willi (PWS) and Schaaf-Yang syndromes (SYS) are disorders that are both caused by alterations of the MAGEL2 gene, which is either completely missing (PWS) or non-functional (SYS). Working with PWS and SYS mouse models, Dr. Schaaf will investigate the function of a brain ‘support cell’ (astrocytes), which have recently been found to be...

Long Non-Coding RNAs Transcribed From Prader-Willi syndrome Locus: Key Regulators of Gene Expression (Year 2)

Funded Year: 2021

Preliminary research done by Dr. Grzechnik has shown that “long non-coding RNAs”, (lncRNAs) from PWS-region genes may act as important regulators in neurodevelopment. In this project, Dr. Grzechnik will study the changes that occur when the PWS lncRNAs are depleted during the early, middle and late stages of neuronal development.

Gene Therapy of Obesity in Prader-Willi Syndrome by an Autoregulatory BDNF Vector (Year 2)

Funded Year: 2021

Dr. Cao has been developing a gene therapy approach that addresses the major symptoms of PWS, through the delivery of a gene that modulates metabolism and behavior (Brain-derived neurotrophic factor, or BDNF). In her 2nd year of funding, her team will assess whether this single-dose viral gene therapy into brain improves metabolism and behavior...

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