Episode 28 - The Smith-Kingsmore Syndrome Foundation

On this episode of CoRDS Cast, Alyssa sits down with Kristen Groseclose and Dr. Carlos Prada with the Smith-Kingsmore Syndrome Foundation. Smith-Kingsmore Syndrome is a rare condition which is caused by mutations in the MTOR gene (mechanistic target of rapamycin), found at chromosome location 1p36. Kristen is the president of the Smith-Kingsmore Syndrome Foundation and she also has a  son who had gone 15 years without receiving a diagnosis. Dr. Prada is a clinical scientist with board certifications in pediatrics, genetics, and biochemical genetics. Due to the advancement of genetic testing and efforts from medical professionals like Dr. Prada, children are being diagnosed at a much younger age. The Groseclose’s family have a hope to build a structure of a foundation that will impact families to come.  Enjoy!