Fall 2019 Grant Award: Investigation of Rapamycin as a Therapeutic Option

In this short video, Dr. Theresa Strong explains the rationale behind funding Dr. Schaaf's study: Investigation of Rapamycin as a Therapeutic Option in a Mouse Model of Schaaf-Yang Syndrome (SYS). In a mouse model of PWS and SYS, and in neurons generated from skin fibroblasts of individuals with SYS, Dr. Schaaf’s has discovered a marked upregulation of the ‘mTOR’ pathway, a pathway that is important for many cellular processes. Importantly, there are known drugs that can reduce the activity of the pathway. Schaaf will investigate whether one of these drugs, rapamycin, has a positive impact on cellular and mouse models of SYS.