News & Events

Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces

Sam Hoffman is the 81st known person in the world to be diagnosed with SSADH deficiency, an ultra-rare metabolic condition. His parents were told, “You might want to consider funding research.” Today, a natural history study led by Boston Children’s Hospital is better defining the condition, and two lab investigations are aimed at finding treatments: a platform using patient-derived neurons to test potential drugs, as well as a gene therapy. Read about the strides being made: