Sophies Neighborhood

Sophie’s Neighborhood is a nonprofit 501c3 founded in response to 5-year-old Sophie Rosenberg’s diagnosis of an ultra rare genetic disorder: Multicentric Carpotarsal Osteolysis (MCTO).

Sophie is from Boulder, Colorado. Daughter of local restaurant owners, Hosea and Lauren Rosenberg of Blackbelly & Santo, she is one of ~50 people in the world identified with MCTO, a rare, progressively crippling genetic bone and kidney disease. Over time the mutation is causing her joint bones to disappear and develop abnormally, and threatens end stage kidney failure. There is currently no treatment or cure known to stop the disorder from its path of destruction. This organization was formed to change that RAPIDLY. 

We are funding scientific research worldwide to urgently understand exactly what is going wrong when the MafB gene is mutated (in one copy, heterozygous), in the very small amino acid range that invariably causes MCTO. We are currently working with scientists at academic institutions and biotech companies specializing in the various disciplines related to the condition. Our research spans biology of bone building cells well as the cells involved in bone resorption - blood cells, hematopoietic stem cells, and kidney cells. We are working with companies in cell engineering, transcriptomics, and proteomics as well. Our studies will uncover viable therapeutics through drug repurposing, as well as novel modalities for the purposes of halting MCTO in its patients. We are always interested in connecting with those in biosciences interested in helping us learn, as well as anyone who simply wants to support our nonprofit through fundraising and advocating. We are here to Move Mountains for MCTO, and we will not stop our fight for rare disease!