Knowlege is empowering! For those who are interested in learning more about the drug discovery and approval process, the FDA (Federal Drug Administration) has a new informational website directed specifically at patient education and involvement. There is information about the process from discovery through preclinical/clinical research and finally FDA review and approval. There is also a page explaining the important differences between clinical trials and medical treatment. Check it out! http://www.patientnetwork.fda.gov/
Within PWS and general obesity research, there are several labs currently working in the area of serotonin signaling. Serotonin is a neurotransmitter and this pathway contributes to the regulation of appetite and mood, and is reported to be altered in PWS. Moreover, loss or alteration of the serotonin receptor 2C (HTR2c), has been associated with mood and appetite changes, including hyperphagia and obesity in mouse models. The most recent FPWR newsletter highlighted the work of Dr.
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.
We are very fortunate in PWS community to have many outstanding researchers who are excited by the challenge that PWS presents scientifically. Dr. Uta Francke is one such investigator, a physician-scientist who has spent many productive years advancing the field of genetics overall, including PWS specifically. Dr. Francke’s many contributions to human genetics have included defining the underlying genetics of disorders such as chronic granulomatous disease, adrenal hypoplasia, glycerol kinase definciency and Duchenne muscular dystophy. But our community is indebted to Dr.
An FPWR blog in September 2009 highlighted research into the potential role of central adrenal insufficiency (CAI) in cases of sudden and unexpected death in PWS patients. Some recent studies provide more information on the prevalence of CAI in PWS and demonstrate that continued research is warranted.
Amongst the various health issues associated with PWS, dental concerns are some of the least well studied and understood. Overall dental health can have huge impacts on susceptibility to other diseases and plays an important role in overall quality of life, well beyond basic cosmetic concerns.
Once again, there's been a signficant shift in scientific thinking about the fixed nature of brain development. The idea that the brain can't be changed after early childhood has been turned on its head in the past few years, and a new research study demonstrates how just how important that might be for the neurodevelopmental disorder, Fragile X syndrome (FXS). FXS is a genetic disorder, caused by disruption of a gene on the X-chromosome, that results in intellectual disability, beha
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: