Prader-Willi syndrome (PWS) is a neuroendocrine disorder caused by a defect in chromosome 15 inherited from the father, which results in the body being unable to produce a number of hormones necessary for its proper functioning. The most prominent manifestation of PWS is hyperphagia, which manifests itself as a persistent intense feeling of hunger, without the possibility of achieving a feeling of satiety. A person with PWS never feels satiated, even immediately after eating, and needs constant supervision to prevent them from overeating, which leads, among other things, to significant social isolation.
Our aim is to raise awareness of this syndrome and, above all, to increase the chances of discovering an effective comprehensive therapy for this still incurable disease. The Epigenteo Foundation in cooperation with scientists from the Czech Centre for Phenogenomics and the Institute of Molecular Genetics of the CAS are conducting research and testing of therapeutic agents for the treatment of PWS. They are testing various substances that could positively influence the manifestations of this disease. They are currently in the phase of testing an existing discovery, which will be followed by a phase of clinical trials.
The results of the research may help hundreds of thousands of PWS patients worldwide.