The Danny Craig Foundation facilitates a research grant awarded to the University of Florida to capture a detailed snapshot the biochemistry of the metabolism of individuals with Prader-Willi Syndrome(PWS).
The PWS Metabolomics Project represents an exciting opportunity with four specific aims:
- Publish the metabolomic profile of patients in the 2a-3 phases of PWS, both fasting and after a glucose load.
- Compare the PWS metabolome to the metabolome of healthy controls in order to identify hormones that may be missing in individuals with PWS. In particular, the study will seek to identify an as-yet-undescribed hormone that is required to release energy stores from adipose tissue in a fasting state.
- Determine the effect of a ketogenic (very low carbohydrate/high fat) diet on satiety, quality of life, and metabolic function in individuals with PWS.
- Characterize the gut microbiome in normal controls, patients with PWS, and patients with PWS who have switched to a ketogenic diet.
The PWS Metabolomics Project will result from the exceptional collaboration between one of the top PWS researchers in the world (Dr. Jennifer Miller) and one of only a handful of metabolomic specialists in the world (Dr. Peggy Borum). The collaboration between a clinician and a biochemist will epitomize translational research. The research will take place at the University of Florida and will capitalize on the steady flow of patients through Dr. Miller’s PWS clinic as well as the world class metabolomics facility at the University.
Results will be presented at an annual PWS scientific meeting and written up for publication in a peer-reviewed scientific journal. It is hoped that that the results will become part of the growing PWS literature and inspire novel collaboration around the world.