Rare diseases are individually uncommon but together they affect over 300 million people worldwide. For many families, this means long diagnostic journeys, limited availability of information, and having to advocate constantly for the care their children need.This video follows one family living with rare genetic conditions and explores how open data sharing is helping clinicians, researchers, and charities better support families like theirs.
EMBL-EBI’s DECIPHER data resource securely shares genomic variants and clinical information to support diagnosis and rare disease research worldwide.
The video also highlights how patient support organisations Unique and Genetic Alliance UK use these data in DECIPHER and data from the GenROC study, a study of 500 children with rare genetic syndromes led from the University of Bristol, to provide trusted information and practical support to families affected by rare disease.
Watch the video to see how DECIPHER is supporting people affected by rare disease through the story of one family advocating for more rare disease data to be submitted and shared openly to improve rare disease awareness and diagnosis. https://youtu.be/Yhiy9OGwAOQ