FPWR hosted its first ever Scientific Day in Austin, Texas on September 25th, 2015. The event brought together more than 40 scientific experts in PWS research, the majority of whom are currently funded by FPWR’s grant program. Participants included researchers, clinicians, providers, and representatives from pharmaceutical companies. The goal of Scientific Day was to share recent advances in PWS research and to spark new ideas and collaborations across the research spectrum. The FPWR research team also provided updates on resources for PWS research including animal models and the newly launched Global PWS Registry. A full program for Scientific Day can be found below, and includes abstracts for the talks, as well as links to the FPWR funded projects.
The event started with a keynote presentation from Garrett Stuber, PhD, Assistant Professor of Psychiatry, Cell Biology and Physiology, from UNC Chapel Hill, School of Medicine. Dr. Stuber is an expert in brain neurocircuitry. He presented his lab’s recent work on using cutting edge technologies to define the brain circuits that regulate behaviors such as reward-driven eating. This type of research is central to understanding food behavior and hyperphagia in PWS, and Dr. Stuber is currently funded to apply these advanced techniques towards understanding PWS.
Following the keynote, a stimulating series of research talks covered a broad array of topics including animal models, genetic mechanisms of PWS, therapeutic development, and cognition and mental health. Several talks centered on how loss of the PWS-region gene, Magel2, contributes to the characteristics of PWS. Recent studies indicate that Magel2 loss contributes to deficiencies in metabolism and muscle function, as well as changes in sleep patterns and neurocognitive function in PWS. Additional talks focused on advancing our understanding of the genetic regulation of the PWS region at molecular level. These groups are working to develop therapies by reactivating the maternal chromosome and/or substituting for the loss of genes in the PWS region. Research in areas of mental health, cognition, and behavior in PWS are also gaining steam. Researchers are working to develop better ways of measuring social behavior and development in PWS, as well as adapting interventions to improve cognition and social skills in those with PWS. Overall, it was a day that highlighted the broad array of promising studies ongoing in the PWS field, and there was plenty of animated dialogue, cross-fertilization and brainstorming of new ways to understand and treat PWS. With approximately $1.9 million in new research funded in 2015, we are looking forward to another enlightening meeting at the IPWSO conference July 2016.