Learn About SMA is a resource for spinal muscular atrophy (SMA) patients, families and researchers. The site includes stories of living with SMA and recent advances in the understanding and potential treatment of SMA.
Learn About SMA is divided into five sections that can be browsed in a non-linear fashion, with video interviews, animations, and narrative.
What is SMA?
Drs. Darryl De Vivo and Charlotte Sumner explain the cause, inheritance and diagnosis of SMA, including facts, incidence, and basic physiology. This section includes an animation of SMA inheritance, description of the Survival Motor Neuron (SMN) protein, plus stories from four families about their diagnostic journeys.
An introduction to genetics, the genes involved with SMA, and how they work, including 2-D and 3-D animations. Nobel Laureates Rich Roberts and Phil Sharp describe RNA splicing, the mechanism that underpins SMA.
Current and potential treatments – such as small molecule, stem cells and gene therapies – are discussed by Drs. Darryl De Vivo and Charlotte Sumner. A father also described the daily routine of physical therapies for his daughter, who has SMA.
Antisense Therapy for SMA
Researchers Phil Sharp, Adrian Krainer, and Charlotte Sumner help make sense of antisense therapy for SMA. The videos and animations explain how the intrathecal therapy exploits RNA splicing to increase production of the SMN protein.
Living with SMA
Four families describe their experiences of SMA: parents of an infant, toddler, and child, plus an adult living with SMA. The families describe daily routines, disease progression, children's understanding of SMA, and grieving.
Learn About SMA was developed with support from the Spinal Muscular Atrophy Foundation.