Last week Neil attended a “demystifying genomes for patient registries” event hosted by Sano genetics. The event was meant to give charities in the rare disease field an insight into different ways to set up a registry and the challenges of each system. Sano genetics is a small company formed by a group of scientists from the Sanger Centre in Cambridge. They aim to connect patients with research and see registry development as a key part of that process.
Neil presented some details of the UK DMD registry to the group – explaining how it was set up by Action Duchenne working alongside parents, geneticists and clinicians – and the type of data it holds. The Cystic Fibrosis Trust presented their registry model, and patient organisations looking to establish registries spoke about their aims and the challenges they faced.
One key challenge of any registry is keeping the data up to date. If you’d like to update your data on the UK DMD registry, please follow the link here.
Talking with your children about Duchenne
