In a recent email correspondence, Dr. Cunningham at the University of Texas Medical Branch thanked FPWR and described the contribution that FPWR grant funds (2010-2011) have had on the work coming out of her laboratory. She writes, "thank you for the support which allowed us to build an entirely new program to develop therapeutics for those affected by PWS...We have made incredible progress on this research program, thanks in great part for the support from the FPWR.
Here's a blog from FPWR Board member Shawn Johnson about the "PWS Research Challenge: Advancing Appetite and Satiety Research", which FPWR has launched in collaboration with InnoCentive. Shawn championed the idea of a crowdsourcing approach to generate new insight into hyperphagia in PWS:
Prader-Willi syndrome (PWS) is a disease caused by mutations on human chromosome 15 leading to "floppy" infants initially, and obesity and sleep disorders later. Although genetic defects underlying PWS have been documented, it is still not well understood how the loss-of-function of genes results in various symptoms in PWS. It has been shown that the dysfunction of the hypothalamus, a brain structure, contributes to symptoms seen in PWS patients.
Prader-Willi Syndrome (PWS) is a complex genetic disorder in which several genes are missing or not functional. PWS is characterized by initial loss of muscle tone and failure to thrive neonatally; children with PWS develop behavioral and cognitive problems, reproductive defects, and excessive overeating. A major medical concern is the morbid obesity that results from incessant food-seeking and an inability to feel full. The chromosomal defect in PWS patients deletes a gene sequence involved in regulating a receptor found in the brain, the serotonin 5-HT2C receptor (5-HT2CR).
Individuals with PWS are, in many ways, perfect subjects for studying the effectiveness of candidate obesity drugs. Excessive weight gain is a common and critical issue, frequently leading to a multitude of medical complications. Even in the best of environments and with the best efforts of those with the disorder, maintaining good weight control is a constant struggle. Behavior therapy has been ineffective, given the strong biological drive to eat.