TreatSMA hosted its own event celebrating Rare Disease Day on February 29. There are estimated 8000 rare diseases across the world affecting over 300 million people, so we decided to showcase some other conditions in addition to SMA.

The evening began with an introduction from Rafael Yáñez Director of the Centre of Gene and Cell Therapy in the Department of Biological Sciences, Royal Holloway University of London, UK. Prof Yáñez has a strong interest in research translation, and extensive experience in gene and cell therapy for both common and rare diseases. He is particularly involved in the development of safer methods, using genome editing and viral vectors modified to avoid integration in the cellular genome. His latest research is of relevance to neurodegenerative and inherited diseases, including ataxia telangiectasia, spinal muscular atrophy, spinal injury, Parkinson disease, immunodeficiencies and Duchenne muscular dystrophy. Prof Yáñez is also Editor-in-Chief of Gene Therapy, Treasurer and President-Elect (2021-2025) of the British Society for Gene and Cell Therapy and Chair of Trustees of the Genetic Alliance UK.

This was followed by our own Aimee Grayson talking about her experiences with SMA followed by a number of other people affected by different rare diseases such as Batten’s disease, SMARD and others.

Thank you to everybody who took part in the event, both participants and those that continue to support communities such as ales to seek treatment for rare diseases.